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<strong>Concurs</strong> <strong>pentru</strong> <strong>ocuparea</strong> <strong>postului</strong> <strong>poz</strong>. 2 <strong>de</strong> <strong>Profesor</strong> universitar Data 17.11.2008.<br />

Disciplina: Genetica medicala<br />

Domeniul: Medicina generala<br />

Post publicat în Monitorul Oficial al României nr. 649 din 13.11.2008<br />

Publicat in Viata Medicala nr. 47/21.11.2008<br />

LISTA DE LUCRARI<br />

Candidat: Puiu Ghe. Maria<br />

Dr. în medicina din 1994, Conferentiar din anul 2003.<br />

1º Teza <strong>de</strong> doctorat<br />

T 1<br />

Puiu Maria – Patologia unor populatii intens consanguinizate din Banat, Universitatea <strong>de</strong><br />

Medicina “Carol Davilla”, Bucuresti, 170 pg, 1994<br />

2º Carti/cursuri publicate în edituri recunoscute (Ca1, Ca2 etc.) prin care se aduc contributii<br />

la <strong>de</strong>zvoltarea activitatilor didactice/profesionale în raport cu natura criteriului <strong>de</strong> evaluare TP2<br />

Ca1<br />

Maria Puiu, Genetica si farmacogenetica, Curs si lucrari practice <strong>pentru</strong> stu<strong>de</strong>ntii facultatii<br />

<strong>de</strong> farmacie, Editura Brumar, Timisoara, ISBN 978-973-602-241-5, 209 pg. Curs: pg. 1-<br />

108, 2008<br />

Ca2 Valerica Belengeanu, Maria Puiu, D. Stoicanescu, C. Gug, M. Mihaescu, S. Farcas, C.<br />

Popa, M. Stoian, Elemente <strong>de</strong> Genetica medicala, Editura Orizonturi universitare,<br />

Timisoara, ISBN: (10) 973-638-272-9, 275 pg., 2006<br />

Ca3<br />

Ca4<br />

Maria Puiu, Genetique medicale, cours, Editura Orizonturi Universitare, Timisoara, ISBN-<br />

973-8391-39-3, 331 pg., 1- 238 pg cours, 2002<br />

Olimpia Tudose, Valerica Belengeanu, Maria Puiu, Dorina Stoicanescu, Cristina Gug,<br />

Mirela Moga, Genetica medicala – CURS, Ed. Orizonturi universitare, Timişoara, ISBN<br />

973-8109-09-4, 268 pg, 2000<br />

Ca5 Puiu, M., Moga, M, Notes <strong>de</strong> génétique médicale, Ed. Eurobit, Timisoara, ISBN 973-9441-88-4,<br />

123 pg. Cours : pg 1-88, 1998<br />

In<strong>de</strong>xat NLM Catalog/PubMed, Notes <strong>de</strong> génétique médicale : à l'usage <strong>de</strong>s étudiants en<br />

médicine <strong>de</strong> langue française, NLM ID: 101126830 [Book]<br />

Ca6<br />

Tudose, O., Moga, M., Stoicanescu, D., Puiu, M., Gug, C., Text-Book of Medical genetics for<br />

medical stu<strong>de</strong>nts, Ed. Eurobit, Timisoara, ISBN 973-9441-02-5, 1998<br />

Îndrumare publicate (I1, I2 etc.)<br />

I1<br />

I2<br />

I3<br />

I4<br />

Valerica Belengeanu, Maria Puiu, Dorina Stoicanescu, Cristina Gug, Mirela Mihăescu, Simona<br />

Farcaş, Cristina Popa, Monica Stoian, Nicoleta Andreescu, Noemi Meszaros, Aplicatii practice in<br />

Genetica medicala, Ed. Eurostampa, Timisoara, ISBN 978-973-687-676-9, 272 pg. 2008<br />

Maria Puiu, Genetica si farmacogenetica, Curs si lucrari practice <strong>pentru</strong> stu<strong>de</strong>ntii facultatii <strong>de</strong><br />

farmacie, Editura Brumar, Timisoara, ISBN 978-973-602-241-5, 209 pg., Indrumator <strong>de</strong> lucrari<br />

practice: pg. 108-209, 2008.<br />

Valerica Belengeanu, Maria Puiu, Dorina Stoicanescu, Cristina Gug, Mirela Mihăescu, Simona<br />

Farcaş, Cristina Popa, Kinga Rozsnyai,Genetica medicala – AplicaŃii practice, Ed. Orizonturi<br />

universitare, Timişoara, ISBN 973-638-111-0, 160 pg. 2004.<br />

Maria Puiu, Genetique medicale, Traveaux pratiques, Editura Orizonturi Universitare, Timisoara,<br />

ISBN-973-8391-39-3, 238-331 pg traveaux pratiques, 2002.<br />

1


I5<br />

Olimpia Tudose, Valerica Belengeanu, Maria Puiu, Dorina Stoicanescu, Cristina Gug, Mirela<br />

Moga, Genetica medicala – Ghid <strong>pentru</strong> lucrari practice, Ed. Orizonturi universitare, Timişoara,<br />

ISBN 973-8109-07-8, 128 pg, 2000.<br />

I6 Puiu, M., Moga, M., 1998, Notes <strong>de</strong> génétique médicale, Ed. Eurobit, Timisoara, ISBN 973-<br />

9441-88-4, 123 pg, Traveaux pratique: pg. 89-123, 1998.<br />

Capitole publicate în volume colective, capitole teoretice redactate, sisteme <strong>de</strong> laborator<br />

functionale etc. (D1, D2 etc.)<br />

D1<br />

D2<br />

D3<br />

D4<br />

Emilian Damian Popovici, Mihaela Noditi, Ioan Petru Milos si colab. Oportunitati si provocari in<br />

Sanatatea Publica in contextul integrarii Romaniei in Uniunea Europeana, Puiu Maria: cap.<br />

Bolile rare, o problema majora <strong>de</strong> sanatate publica (pp. 168-171), Registrul National al Bolilor<br />

Rare-un instrument <strong>pentru</strong> o abordare coerenta a epi<strong>de</strong>miologiei acestor boli (A. Tarniceru,<br />

Maria Puiu, pp. 171-175), Importanta retelelor europene in managementul bolilor rare, pp. 175<br />

-178., Editura Brumar, 311 pg, ISBN 978-973-602-324-8, Ed. Recunoscuta CNCSIS, 2007.<br />

Cristina Rusu (coordonator), Meto<strong>de</strong> uzuale in screeningul si diagnosticul bolilor genetice,<br />

Editura Gr. T. Popa U.M.F. Iasi, ISBN 978-973-7682-31-4, editura recunoscuta CNCSIS, 266<br />

pg.; Maria Puiu: capitol 1.Tehnici <strong>de</strong> screening prenatal. Screeningul serului matern, pp 3-13,<br />

capitol 4. Tehnici <strong>de</strong> diagnostic prenatal. Amniocenteza, pp 71-81, Punctia <strong>de</strong> vilozitati<br />

corionice, pp 81- 86, Cariotipul, pp 105-112, 2007.<br />

Mircea Covic, Dragoş Ştefănescu, Ionel Sandovici (coordonatori), Genetică medicală, Editura<br />

Polirom, Iaşi, ISBN 973-681-334-7, 607 pg, editura recunoscuta CNCSIS, Maria Puiu, capitol<br />

6. Variabilitatea genetica (M. Covic, I. Dimofte, M. Puiu, I. Sandovici), pp 203-248, capitol 7.<br />

Genetica populatiilor (M. Covic, M. Puiu, E. Severin), pp 253-271, 2004.<br />

Ioana Micle si colab., Olimpia Tudose, Maria Puiu, Dorina Stoicanescu, Diabetologie<br />

pediatrica – teorie si practica, Capitolul, Genetica diabetului zaharat tip 1, Editura<br />

Marineasa, Timisoara, ISBN-973-9485-68-5, 2000.<br />

3º Carti <strong>de</strong> specialitate publicate în edituri recunoscute (Cb1, Cb2 etc.),<br />

Cb1<br />

Cb2<br />

Cb3<br />

Cb4<br />

Cb5<br />

Maria Puiu (coordonator), Bolile rare, intre daruire si intelegere, Ed. Brumar, Timisoara, pag.<br />

132, ISBN 978-973-602-390-3, editura recunoscuta CNCSIS, 2008.<br />

Maria Puiu (coordonator) , Bolile rare, informatii utile <strong>pentru</strong> parinti, Ed. Brumar, Timisoara,<br />

92 pag. ISBN 978-973-602-391-0, editura recunoscuta CNCSIS, 2008<br />

Maria Puiu (coordonator), Esentialul in 101 boli genetice rare, Ed. Orizonturi Universitare,<br />

Timisoara, ISBN 978-973-638-327-4, editura recunoscuta CNCSIS, 512 pagini, 2007.<br />

Mihai Gafencu, Maria Julieta Puiu, Violeta Stan, Gabriela Doroş, Sindromul Down <strong>de</strong> la<br />

îngrijire la înŃelegere şi acceptare, Ed. Brumar, ISBN 973-602-137-8, editura recunoscuta<br />

CNCSIS, 236 pagini, Maria Puiu, capitolul 1, pp 9-11, capitolul 2, pp 11-15, capitolul 3, pp 15-<br />

29, capitolul 12, pp 211-227, 2005.<br />

Maria Puiu, Mic dicŃionar <strong>de</strong> genetică medicală, Ed. Eurobit, Timisoara, ISBN-973-9336-87-6,<br />

editura recunoscuta CNCSIS, 210 pg, 1998.<br />

Cb6 Maria Puiu, Genetica populaŃiilor umane, Ed. Eurobit, Timisoara, ISBN 973-9336-86-8,<br />

editura recunoscuta CNCSIS, 138 pg, 1998.<br />

Cb7 Maria Puiu, Genetica izolatelor, Ed. Helicon, Timisoara, ISBN 973-9133-71-1, editura<br />

recunoscuta CNCSIS, 173 pg, 1995.<br />

2


Articole/studii publicate în reviste <strong>de</strong> specialitate <strong>de</strong> circulatie internationala recunoscute<br />

(Ri1, Ri2 etc.)<br />

Articole in<strong>de</strong>xate in baze <strong>de</strong> date medicale<br />

Articole citate in baze <strong>de</strong> date medicale<br />

Ri 1<br />

Ri 2<br />

Tamara Marrcovici, I. Sabau, I. Simedrea, Camelia Daescu, Oana Belei, Mirela Mihaescu,<br />

Maria Puiu, Anusul ectopic la copil-marker al sindroamelor plurimalformative, Revista medicochirurgicala<br />

a Societatii <strong>de</strong> medici si naturalisti din Iasi, vol. 112, ISSN 0048-7848, Nr. 4, Supl.<br />

1, pp. 130-135, 2008<br />

Revista inclusa in INDEX MEDICUS, MEDLINE<br />

Rusu C, Sireteanu A, Puiu M, Skrypnyk C, Tomescu E, Csep K, CreŃ V, Barbarii L.<br />

[MLPA technique--principles and use in practice]<br />

Rev Med Chir Soc Med Nat Iasi. 2007 Oct-Dec;111(4): pp 1001-4. Review. Romanian.<br />

PMID: 18389795 [PubMed - in<strong>de</strong>xed for MEDLINE]<br />

BioInfoBank Library<br />

CureHunter Inc.,<br />

Precision Medical Data Mining<br />

MLPA technique--principles and use in practice]<br />

C Rusu, A Sireteanu, M Puiu, C Skrypnyk, E Tomescu … - Revista medico-chirurgicală̆ a Societă̆Ń̜ii <strong>de</strong><br />

Medici ş̧i … - ncbi.nlm.nih.gov<br />

... [Article in Romanian] Rusu C, Sireteanu A, Puiu M, Skrypnyk C, Tomescu E, Csep<br />

K, CreŃ V, Barbarii L. Disciplina <strong>de</strong> Genetică Medicală, Facultatea <strong>de</strong> Medicină,<br />

Universitatea <strong>de</strong> Medicină si Farmacie "Gr.T. Popa", Iaşi. ...<br />

Ri 3<br />

Victoria CreŃ, Mariela Militaru, Cristina Rusu, Maria Puiu, Cristina Skrypnyk, Ligia Barbarii,<br />

Katalin Csep, E. Tomescu, DetecŃia rearanjamentelor subtelomerice prin mlpa (multiplex<br />

ligation-<strong>de</strong>pen<strong>de</strong>nt probe amplification) - metodă nouă <strong>de</strong> diagnostic în formele idiopatice <strong>de</strong><br />

retard mental, Clujul Medical, vol. LXXX, Nr.1, pp. 17-22, 2007.<br />

[PDF] Clujul Medical - all 2 versions »<br />

UM şi Farmacie, C Napoca, L Volumul - sorana.aca<strong>de</strong>micdirect.ro<br />

... VICTORIA CREł, MARIELA MILITARU, CRISTINA RUSU, MARIA PUIU, CRISTINA SKRYPNYK,<br />

LIGIA BARBARII, KATALIN CSEP, E. TOMESCU: DetecŃia rearanjamentelor ...<br />

Ri 4<br />

Cristina Maria Bortun, Liliana Sandu, Maria Puiu, Serban Talpos. The importance of the <strong>de</strong>ntal<br />

exam for i<strong>de</strong>ntification and diagnosis of genetic diseases. In Int Poster J Dent Oral Med, Vol 9<br />

No 03, 2007, Quintessence International Publishing Group ISSN 1612-7749.<br />

http://ipj.quintessenz.<strong>de</strong>/in<strong>de</strong>x.phpcontent=issues&doc=poster&select=375<br />

The importance of the <strong>de</strong>ntal exam for i<strong>de</strong>ntification and diagnosis of genetic diseases<br />

CM Bortun, APL Sandu, APM Puiu, AS Talpos, A … - ipj.quintessenz.<strong>de</strong><br />

... Prof. Liliana Sandu, Assoc. Prof. Maria Puiu, Assist. Serban Talpos Victor <strong>Babes</strong><br />

University of Medicine and Pharmacy, Timisoara, Romania. ...<br />

Int Poster J Dent Oral Med 2007, Vol 9 No 03, Poster 375<br />

Ri 5 D. Stoicanescu, Maria Puiu, Olimpia Tudose, M. Mihaiescu, V. Belengeanu, C. Gug, M.<br />

Bataneant,Value of cytogenetic investigation in the diagnosis of dysmorphic syndromes.<br />

Timisoara medicala, Vol. 53, Nr. 2, pp 155 – 158, 2003.<br />

VALUE OF CYTOGENETIC INVESTIGATION IN THE DIAGNOSIS OF DYSMORPHIC SYNDROMES<br />

- all 2 versions » D Stoicãnescu, M Puiu, O Tudose, M Mihãescu, V … - tmj.ro<br />

... Dorina Stoicãnescu 1 , Maria Puiu 1 , Olimpia Tudose 1 , Mirela Mihãescu 1 ,<br />

Valerica Belengeanu 1 , Cristina Gug 1 , Mihaela Bãtãneant 2. ...<br />

Ri 6<br />

D. V. Vasilie, I. D. A. Nemes, R. E. Iacob, Maria Puiu, M. Dragoi, Anomalies of the digits with<br />

family aggregation. Timisoara medicala, Nr. 3-4, pp. 69 – 72, 2002.<br />

CITARE] Finger ANOMALIES WITH FAMILY AGGREGATION<br />

3


DV Vasilie, IDA Nemeş, M Puiu, RE Iacob, M Drăgoi<br />

Ri 7<br />

Valerica Belengeanu, Olimpia Tudose, I. Popa, Dana Metea, Maria Puiu, Elena Lazar, Cristina<br />

Gug, The floating – Harbor Syndrome with hypothyroidism and a <strong>de</strong>letion of 8q2.1. Timisoara<br />

medicala, Nr. 3-4, pp. 60 – 64, 2002.<br />

CITARE] THE FLOATING-HARBOR SYNDROME WITH HYPOTHYROIDISM AND A DELETION OF 8q24<br />

… Tudose, I Popa, D Metea, M Puiu, D Stoicănescu, C … - tmj.ro<br />

Ri 8 Bosun I, Puiu M. [Genetic studies in retinoblastoma], Oftalmologia. 1998;45(4):28-34.<br />

PMID: 10418625 [PubMed - in<strong>de</strong>xed for MEDLINE],<br />

BioInfoBank Library<br />

CITARE] in The Journal of Allergy and Clinical Immunology<br />

The The Journal of Allergy and Clinical Immunology is published by Elsevier for the American<br />

Aca<strong>de</strong>my of Allergy, Asthma & Immunology.<br />

journals.elsevierhealth.com/periodicals/ymai/medline/related/MDLN.7507704 - 61k -<br />

Genetic studies in retinoblastoma<br />

I Bosun, M Puiu - Oftalmologia, 1998 - ncbi.nlm.nih.gov<br />

Oftalmologia. 1998;45(4):28-34. [Genetic studies in retinoblastoma]<br />

[Article in Romanian] Bosun I, Puiu M. Clinica Oftalmologica Craiova.<br />

Ri 9<br />

Ri 10<br />

CITARE] Brachmann-Cornelia <strong>de</strong> Lange syndrome. Case report<br />

… , T Marcovici, A Malai, E Milanovici, J Puiu - PEDIATRIA-BUCURESTI-, 1996 - COMPUTER<br />

PUBLISHING CENTER<br />

CITATION] Poland syndrome<br />

I Sabau, O Marginean, C Golea, M Cufteac, J Puiu, … - PEDIATRIA-BUCURESTI-, 1995 - COMPUTER<br />

PUBLISHING CENTER<br />

Articole/studii publicate în volumele unor manifestari stiintifice internationale recunoscute<br />

din tara si din strainatate (Vi1, Vi2 etc.).<br />

Vi1<br />

Vi2<br />

Vi3<br />

Vi4<br />

Puiu Maria, The integration of the minor morphological modifications in the frustum forms of the<br />

Marfan Syndrome, Abstracts book, XX International Symposium of Morphological Sciences,<br />

Timisoara, pp. 208, 2008<br />

M. Puiu, C. Badiu, L. Carasava, Gh. Burnei, D. Dan, C. Jinca, R. Dumache, M. Serban, The<br />

imperfect osteogenesis, mo<strong>de</strong>l of interdisciplinarity and national approach of a rare disease,<br />

Abstracts book, XX International Symposium of Morphological Sciences, Timisoara, pp. 209-10,<br />

2008<br />

M. Gafencu, G. Doros, M. Puiu, D. Dan, A. Balint. The role of volunteers in activities supporting<br />

Rare Diseases Alliance. European Journal of Human Genetics, Volume 16 Supp. 2, pp. 427,<br />

ISSN 1018-4813, eISSN 1476-5438, 2008.<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 4,003 în anul 2007.<br />

.<br />

M. Puiu, A. Tarniceru, D. Dan. The role of Patient' s Organizations in establishing some<br />

strategies in the healthcare system concerning rare diseases, European Journal of Human<br />

Genetics, Volume 16 Supp.2, pp. 425. ISSN 1018-4813, eISSN 1476-5438, 2008<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 4,003 în anul 2007..<br />

Vi5 A. Sireteanu, E. Neagu, G. Schobers, V. Bica, C. Skrypnyk, M. Puiu, V. Cret, L. Barbarii, C.<br />

Rusu. Diagnosis optimization by using MLPA in the investigation protocol in mentally retar<strong>de</strong>d<br />

children - Romanian experience, European Journal of Human Genetics, Volume 16 Supp. 2, pp.<br />

405. ISSN 1018-4813, eISSN 1476-5438, 2008.<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 4,003 în anul 2007..<br />

Vi6<br />

Alina Tarniceru, M. Puiu, M. Serban; A new approach concerning the registries for rare diseases.<br />

European Journal of Human Genetics, Volume 16 Supp.2, pp. 388. ISSN 1018-4813, eISSN<br />

4


1476-5438, 2008.<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 4,003 în anul 2007..<br />

Vi7<br />

Vi8<br />

Vi9<br />

Vi10<br />

Vi11<br />

Vi12<br />

Vi13<br />

Vi14<br />

M. Mihailov, M. Serban, D. Savescu, S. Arghirescu, C. Petrescu, M. Puiu; Risk Factors of<br />

Inhibitors Development in Haemophilia Patients. European Journal of Human Genetics, Volume<br />

16 Supp. 2, pp. 316, ISSN 1018-4813, eISSN 1476-5438, 2008.<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 4,003 în anul 2007..<br />

M. Puiu, M. Serban, N. Cucu, G. Anton, D. Dan, C. Popoiu, C. Rusu, V. Pop, C. Badiu. New<br />

hypotheses in PWS/AS research: a multidisciplinary approach of rare diseases in Romania,.<br />

European Journal of Human Genetics, Vol. 16 Supp. 2, pp. 133, ISSN 1018-4813, eISSN 1476-<br />

5438, 2008.<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 4,003 în anul 2007..<br />

G. S. Doros, M. Gafencu, A. Popoiu, B. Zoica, J. Puiu; . Supravalvular aortic stenosis and<br />

Williams Syndrome. European Journal of Human Genetics, Vol. 16 Supp.2, pp. 132, ISSN 1018-<br />

4813, eISSN 1476-5438, 2008.<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 4,003 anul 2007..<br />

T. Marcovici, I. Sabau, I. Simedrea, M. Mihaescu, M. Puiu, R. Tudorache; . Wolf-Hirschorn<br />

syndrome - case report. European Journal of Human Genetics, Vol. 16 Supp. 2, pp. 130, ISSN<br />

1018-4813, eISSN 1476-5438, 2008.<br />

Jurnal cotat ISI, FI 4,003/2007..<br />

R Dumache, M Serban, M Puiu, Prognostic Role and Clinical Significance of Minimal Residual<br />

Disease in Acute Lymphoblastic Leukemia of Childhood, 4 th Biologie Prospective Santorini<br />

Conference, 21-23 September 2008, Santorini-Grece, Functional Genomics towards<br />

Personalized Health Care, Jurnal of Clinical Chemistry and Laboratory Medicine, ISSN 1434-<br />

6621, vol.46, no. 8, pp A128, 2008.<br />

Jurnal cotat ISI Curent Impact Factor 1,73<br />

In<strong>de</strong>xed in: Aca<strong>de</strong>mic OneFile (Gale/Cengage Learning) - Analytical Abstracts - Biochemistry<br />

& Biophysics Citation In<strong>de</strong>x - Biological Abstracts - BIOSIS Previews - CAB Abstracts and Global<br />

Health - Chemical Abstracts and the CAS databases - CSA Illustrata – Natural Sciences -<br />

Current Contents/Life Sciences - Elsevier BIOBASE/Current Awareness in Biological Sciences<br />

(CABS) - EMBASE, the Excerpta Medica database - EMBiology - In<strong>de</strong>x Medicus/MEDLINE - ISI<br />

Custom Information Services - Journal Citation Reports/Science Edition - Science Citation In<strong>de</strong>x<br />

- Science Citation In<strong>de</strong>x Expan<strong>de</strong>d (SciSearch) - Scopus.<br />

R Dumache, M Serban, M Puiu, A new biomarker in molecular medicine for the early <strong>de</strong>tection<br />

of prostate cancer, 4 th Biologie Prospective Santorini Conference 21-23 September 2008,<br />

Santorini-Grece, Functional Genomics towards Personalized Health Care, Functional Genomics<br />

towards Personalized Health Care, Jurnal of Clinical Chemistry and Laboratory Medicine, ISSN<br />

1434-6621, vol.46, no. 8, pp A128, 2008.<br />

Jurnal cotat ISI Curent Impact Factor 1,73<br />

In<strong>de</strong>xed in: Aca<strong>de</strong>mic OneFile (Gale/Cengage Learning) - Analytical Abstracts - Biochemistry &<br />

Biophysics Citation In<strong>de</strong>x - Biological Abstracts - BIOSIS Previews - CAB Abstracts and Global<br />

Health - Chemical Abstracts and the CAS databases - CSA Illustrata – Natural Sciences -<br />

Current Contents/Life Sciences - Elsevier BIOBASE/Current Awareness in Biological Sciences<br />

(CABS) - EMBASE, the Excerpta Medica database - EMBiology - In<strong>de</strong>x Medicus/MEDLINE - ISI<br />

Custom Information Services - Journal Citation Reports/Science Edition - Science Citation In<strong>de</strong>x<br />

- Science Citation In<strong>de</strong>x Expan<strong>de</strong>d (SciSearch) - Scopus.<br />

Maria Puiu, Alina Tarniceru , Margit Serban, Luca Dehelean, Molecular and Cytogenetic<br />

characterization of acute lymphoblastic leukemia (ALL) in children and their value in <strong>de</strong>tection of<br />

MRD, Abstract book, XX International Congress of Genetics, Berlin, Germany, pp. 101, 2008<br />

Maria Puiu, Alina Tarniceru , Margit Serban, Neurofibromatosis 1 (NF1): useful elements for<br />

genetic counseling, Abstract book, XX International Congress of Genetics, Berlin, Germany, pp.<br />

154, 2008<br />

5


Vi15<br />

Vi16<br />

Vi17<br />

Vi18<br />

Vi19<br />

Vi20<br />

Vi21<br />

Puiu M, Anton G, Botezatu A, Serban M, Dan D, Cucu N, New epigenetic method for the early<br />

diagnosis of Pra<strong>de</strong>r Willi syndrome, The Annual International Conference of Romanian Society of<br />

Biochemistry and Molecular Biology, Bucharest, pp 99, 29 – 31 May 2008<br />

Dumache R, Bumbăcila B, Puiu M, Miclea F, Overexpression of Cd 24 Gene in Patients with<br />

Prostate Cancer, The Annual International Conference of The Annual International Conference of<br />

Romanian Society of Biochemistry and Molecular Biology, Bucharest, pp 74, 29 – 31 May 2008<br />

Dumache R, Bumbăcilă B, Kaycsa A, Dehelean C, Miclea F, Puiu M, α-Methylacyl-Coa<br />

Racemase: A New Biomarker for the Early Detection of Prostate Cancer, The Annual<br />

International Conference of Romanian Society of Biochemistry and Molecular Biology,<br />

Bucharest, pp 73, 29 – 31 May 2008<br />

Puiu M, .Şerban M, Dumache R, Improvements in the management of ALL in children, a<br />

condition to increase the curability level of the disease, International conference of cellular and<br />

tissue comparative pathology, July, 3rd - 5th, USAMV Cluj-Napoca, pp. 16, 2008<br />

Puiu M, Cucu N, Dan D, Dumache R, Correlation of clinical, genetic and epigenetic aspects<br />

implicated in the etiology of Pra<strong>de</strong>r Willi/ Angelman syndromes : mo<strong>de</strong>l of multidisciplinary<br />

abordation for rare diseases in Romania, International conference of cellular and tissue<br />

comparative pathology, july, 3rd - 5th, USAMV Cluj-Napoca, pp. 11, 2008<br />

Raluca Dumache, Motoc M, Ionescu D, Bumbacila B, Puiu M, Prostate specific antigen ( psa), a<br />

biomarker of neoplastic prostatic disease, international conference of cellular and tissue<br />

comparative pathology, , USAMV Cluj-Napoca, pp 21, July, 3rd - 5th, 2008.<br />

Raluca DUMACHE, Miclea F, Bumbacila B, Puiu M, Correlation between alfa-methyl-acyl-coa<br />

racemase and prostate specific antigen ( psa) levels in blood samples of patients with prostate<br />

cancer, international conference of cellular and tissue comparative pathology, , USAMV Cluj-<br />

Napoca, pp. 21 July, 3rd - 5th, 2008.<br />

Vi22 Puiu M, Rusu C, Neagu E, Skrypnyk C, Bica V, Csep K, Cret K, Ivanov I, Barbarii L, Tarniceru A,<br />

New perspectives in Romania concerning the child with idiophatic mental retardation, 3 rd Eastern<br />

European Conference on Rare Diseases and Orphan Drugs “Rare Diseases-Prevention,<br />

Diagnosis, Treatment”, Plovdiv, Bulgaria, pp 22, 2008<br />

Vi23<br />

Puiu M, Cucu N, Anton G, Implementation of new molecular methods for genetic/epigenetic<br />

investition in PWS/AS, 3 rd Eastern European Conference on Rare Diseases and Orphan Drugs<br />

“Rare Diseases-Prevention, Diagnosis, Treatment”, Plovdiv, Bulgaria, pp 47, 2008<br />

Vi24 Marcovici T, Sabau I, Simedrea I, Puiu M, Gamaniuc E, Mihaescu M, Lesovici P, Lesovici M,<br />

Filip E, Retrolental fibroplasia - a rare cause of visual anomalies, 3 rd Eastern European<br />

Conference on Rare Diseases and Orphan Drugs “Rare Diseases-Prevention, Diagnosis,<br />

Treatment”, Plovdiv, Bulgaria, pp 45, 2008<br />

Vi25<br />

Vi26<br />

Vi27<br />

Vi28<br />

Tarniceru A, Puiu M, Tutunariu R, Serban M, Creating and implementing a National Registry for<br />

Rare Diseases in Romania, 3 rd Eastern European Conference on Rare Diseases and Orphan<br />

Drugs “Rare Diseases-Prevention, Diagnosis, Treatment”, Plovdiv, Bulgaria, pp 21, 2008<br />

Maria Puiu, Access to information about rare genetic diseases in Romania 6th International<br />

Pra<strong>de</strong>r-Willi Syndrome Scientific Conference and Rare Diseases Conference, Cluj, 21-24 iunie,<br />

2007, pp 121, 2007<br />

M. Pop, M. Puiu, A. Tarniceru, Genetic counseling in cancerology 6th International Pra<strong>de</strong>r-Willi<br />

Syndrome Scientific Conference and Rare Diseases Conference, Cluj, 21-24 iunie, pp. 146, 2007<br />

A.M. Neghina, C. Samoila, M. Puiu, A. Anghel Hereditary Hemochromatosis Type I- The first<br />

Website Focused on the First Study in Romania, 6th International Pra<strong>de</strong>r-Willi Syndrome<br />

Scientific Conference and Rare Diseases Conference, Cluj, 21-24 iunie, pp. 121, 2007<br />

6


Vi29 Dana Liana David, Maria Puiu, Manuela Deutsch, N.Hrubaru, Brigitte Hrubaru, S. David, A.<br />

Anghel Controversies in Genetic Counseling, ethical Management of Patients with genital<br />

ambiguity:, 6th International Pra<strong>de</strong>r-Willi Syndrome Scientific Conference and Rare Diseases<br />

Conference, Cluj, 21-24 iunie, pp 136, 2007<br />

Vi30<br />

Vi31<br />

Vi32<br />

Vi33<br />

Vi34<br />

Vi35<br />

Vi36<br />

Vi37<br />

Vi38<br />

Vi39<br />

Vi40<br />

Vi41<br />

Vi42<br />

Gafencu Mihai, Maria Puiu, Doros Gabriela, Violeta Stan, Carina Dragu, Sandu M., stu<strong>de</strong>nt Per<br />

Silvia,Information and training for skill <strong>de</strong>veloping in Down syndrome children: 6th International<br />

Pra<strong>de</strong>r-Willi Syndrome Scientific Conference and Rare Diseases Conference, Cluj, 21-24 iunie,<br />

pp 137, 2007<br />

Glavan F., Puiu M., Moise M., Dinu S The role of orthodontic therapy in correction of<br />

<strong>de</strong>ntomaxillary anomalies from Down syndrome:, 6th International Pra<strong>de</strong>r-Willi Syndrome<br />

Scientific Conference and Rare Diseases Conference, Cluj, 21-24 iunie, pp 138, 2007<br />

Glavan F., Puiu M., Moise M., Dinu S, The psycho-sociable improvements after complex onset in<br />

Treacher- Collins syndrome: 6th International Pra<strong>de</strong>r-Willi Syndrome Scientific Conference and<br />

Rare Diseases Conference, Cluj, 21-24 iunie, pp 139, 2007<br />

T. Marcovici, M.Puiu, I. Sabau, I. Simedrea, R. Tudorache, E. Gamaniuc, Mental retardation in<br />

child-a real challenge for a better quality of life: 6th International Pra<strong>de</strong>r-Willi Syndrome Scientific<br />

Conference and Rare Diseases Conference, Cluj, 21-24 iunie, pp 143, 2007<br />

Mihailov Delia, Serban Margit, Bataneant Mihaela, Maria Puiu, Living with Haemophilia in<br />

Romania: 6th International Pra<strong>de</strong>r-Willi Syndrome Scientific Conference and Rare Diseases<br />

Conference, Cluj, 21-24 iunie, pp. 145, 2007<br />

Maria Puiu, Dorica Dan, Collaborative experiences of the Romanian Pra<strong>de</strong>r – Willi association<br />

with medical specialists: 6th International Pra<strong>de</strong>r-Willi Syndrome Scientific Conference and Rare<br />

Diseases Conference, Cluj, 21-24 iunie, pp. 147, 2007<br />

M. Puiu, A. Tarniceru, D. Mihailov, T. Marcovici, M. Pop, The rol of genetic counseling in<br />

diagnosis of dismorphism in children: 6th International Pra<strong>de</strong>r-Willi Syndrome Scientific<br />

Conference and Rare Diseases Conference, Cluj, 21-24 iunie, pp. 148, 2007<br />

Alina Tărniceru, LucreŃia Tărniceru, Maria Puiu, The rol of the primary care physician in<br />

managing rare genetic diseases: 6th International Pra<strong>de</strong>r-Willi Syndrome Scientific Conference<br />

and Rare Diseases Conference, Cluj, 21-24 iunie, pp. 149, 2007<br />

D. Vasilie, A. Gyurian, M. Puiu, A Radulescu, V.L. David, Long-term psychological outcomes of<br />

hipospadias: 6th International Pra<strong>de</strong>r-Willi Syndrome Scientific Conference and Rare Diseases<br />

Conference, Cluj, 21-24 iunie, pp. 152, 2007<br />

Maria Puiu, Alina Tarniceru, Dorica Dan, Working with Patient Organizations – an excelent<br />

experience for professionals, The European Conference on Rare Diseases, Lisbon, Conference<br />

Report, pp 271-272, ISBN 978-2-9530318-0-5, 2007<br />

Dorica Dan, Maria Puiu, Collaborative Experience of the Romanian Pra<strong>de</strong>r Willi Association with<br />

Medical Specialists, The European Conference on Rare Diseases, Lisbon, Conference Report,<br />

pp 265-266, ISBN 978-2-9530318-0-5, 2007<br />

Puiu Maria, Tarniceru Alina, Dan Dorica, The dynamics of patients with rare diseases and of<br />

patient organizations in Romania, primul Congres International <strong>de</strong> Pediatrie-Sibiu, pp. 590-591,<br />

2007.<br />

Puiu Maria, Dehelean Luca, Arghirescu Smaranda, Tarniceru Alina, Jinca Cristian, Margit<br />

Serban, Citogenetica si citogenetica moleculara (FISH) in leucemia acuta limfoblastica/<br />

Cytogenetics and molecular cytogenetics (FISH) in acute lymphoblastic leukemia, primul<br />

Congres International <strong>de</strong> Pediatrie-Sibiu, pp. 538-539, 2007.<br />

7


Vi43<br />

Vi44<br />

Boia Marioara, Puiu Maria, Manea Aniko, Dima Mirabela, Iacob Daniela, stu<strong>de</strong>ntul Boia E.R.,<br />

Sindromul Cornelia <strong>de</strong> Lange/ Cornelia <strong>de</strong> Lange syndrome: primul Congres International <strong>de</strong><br />

Pediatrie-Sibiu, pg. 570, 2007.<br />

M. Puiu, D. Dan, C. Skrypnyk. Collaborative Experience of the Romanian Pra<strong>de</strong>r Willi<br />

Association with Medical Specialists. European Journal of Human Genetics, Vol. 15 Supp. 1, pp.<br />

340, ISSN 1018-4813, eISSN 1476-5438, 2007<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 4,003 în anul 2007..<br />

Vi45 M. Puiu, S. Arghirescu, M. Bataneant, R. Firescu, L. Stana, M. Baica, M. Mihailov, M. Serban; .<br />

Cytogenetics, immunophenotype and biomolecular parameters-particularities in acute<br />

lymphoblastic leukemia. European Journal of Human Genetics, Vol. 15 Supp. 1, pp. 161, ISSN<br />

1018-4813, eISSN 1476-5438, 2007.<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 4,003 în anul 2007..<br />

Vi46<br />

Vi47<br />

M. Bataneant, S. Arghirescu, C. Petrescu, E. Boeriu, M. Puiu, I. Ferencs, M. Serban. Genetic<br />

disor<strong>de</strong>rs related neoplasia in childhood. European Journal of Human Genetics, Vol. 15 Supp. 1,<br />

pp. 157, ISSN 1018-4813, eISSN 1476-5438, 2007.<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 4,003 în anul 2007..<br />

T. Marcovici, I. Sabau, I. Simedrea, M. Puiu, P. Lesovici, E. Gamaniuc; . Williams Syndrome in<br />

young child - case report. European Journal of Human Genetics, Vol. 15 Supp. 1, pp. 95, ISSN<br />

1018-4813, eISSN 1476-5438, 2007.<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 4,003 în anul 2007.<br />

Vi48 G. S. Doros, B. S. Zoica, M. Bataneant, M. Serban, M. Gafencu, O. C. Ciocarlie, J. Puiu; .<br />

Severe kaposiform hemangioendothelioma associated with Kasabach-Merritt Syndrome - genes<br />

need to be i<strong>de</strong>ntified. European Journal of Human Genetics, Vol. 15 Supp. 1, pp. 93, ISSN 1018-<br />

4813, eISSN 1476-5438, 2007.<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 4,003 în anul 2007..<br />

Vi49 C. Rusu, M. Bembea, C. Skrypnyk, M. Volosciuc, A. Siretean, E. Tomescu, M. Puiu, L. Barbarii; .<br />

Use of MLPA testing in subtelomeric rearrangements <strong>de</strong>tection. European Journal of Human<br />

Genetics, Vol. 15 Supp. 1, pp. 76, ISSN 1018-4813, eISSN 1476-5438, 2007.<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 4,003 în anul 2007.<br />

Vi50<br />

Vi51<br />

Vi52<br />

M. Mihailov, M. Serban, S. Arghirescu, M. Puiu, Psychological manifestations in Romanian<br />

haemophilics. European Journal of Human Genetics, Vol. 15 Supp., pp. 64, ISSN 1018-4813,<br />

eISSN 1476-5438, 2007<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 4,003 în anul 2007..<br />

M. Gafencu, G. Doros, R. Costa, M. Puiu, M. Serban; . Female monozygotic twins with Familial<br />

juvenile nephronophthisis - a case report. European Journal of Human Genetics, Vol. 15 Supp. 1,<br />

pp. 58, ISSN 1018-4813, eISSN 1476-5438, 2007.<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 4,003 în anul 2007..<br />

M. Puiu, S. Arghirescu, M. Bataneant, R. Firescu, L. Stana, M. Baica, M. Mihailov, M. Serban.<br />

Cytogenetics, immunophenotype and biomolecular parameters-particularities in acute<br />

lymphoblastic leukemia. European Journal of Human Genetics, vol. 15, supp., pp. 163, ISSN<br />

1018-4813, eISSN 1476-5438, 2007<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 4,003 în anul 2007..<br />

Vi53 M. Puiu, S. Arghirescu, M. BătăneanŃ, R. Firescu, L. Dehelean, D. Mihailov, L. Stana, A.<br />

Oprişoni, C. Gug, M. Şerban, Correlation of cytogenetic patterns and clinicobiological features in<br />

children acute lymphoblastic leukemia - Chromosome research, in Springer: Special Issue. The<br />

Cytogenetics and Genomics of Crop Plants vol.15, Nr.1, pp. 217, ISSN: 0967-3849 (print<br />

version), ISSN: 1573-6849 (e version) 2007,<br />

Jurnal cotat ISI, Impact Factor: 3.469 (2007).<br />

In<strong>de</strong>xat SpringerLink: http://www.springerlink.com/content/k=puiu&sortor<strong>de</strong>r=asc&o=40<br />

8


Vi54<br />

Vi55<br />

Vi56<br />

Vi57<br />

Vi58<br />

Vi59<br />

Vi60<br />

Vi61<br />

M. Puiu, M. Gafencu, G. Doros, D. Mihailov, D. Muntean; . Genetics Education- experience in a<br />

genetic service. European Journal of Human Genetics, Vol. 14 Supp. 1, pp. 376, ISSN 1018-<br />

4813, eISSN 1476-5438, 2006<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 3,697/ 2006.<br />

M. M. Gafencu, G. S. Doros, M. Puiu, V. Stan, B. Zoica, M. Serban; . The role of team work in<br />

social reinsertion for Down syndrome children. European Journal of Human Genetics, Vol. 14<br />

Supp. 1, pp. 373, ISSN 1018-4813, eISSN 1476-5438, 2006.<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 3,697 în anul 2006..<br />

C. Bortun, M. Puiu, L. Sandu, S. Talpos, The importance of the <strong>de</strong>ntal exam for i<strong>de</strong>ntification and<br />

diagnosis of genetic diseases. European Journal of Human Genetics, Vol. 14 Supp. 1, ISSN<br />

1018-4813, eISSN 1476-5438. pp. 373, 2006.<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 3,697 în anul 2006.<br />

Radulescu A, M. Puiu, D. Vasilie, O. Adam, V. David; . BMP4 expression and it's role in the rib<br />

cage <strong>de</strong>velopment. European Journal of Human Genetics, Vol.14 Supp. 1, pp. 238, ISSN 1018-<br />

4813, eISSN 1476-5438, 2006<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 3,697 în anul 2006.<br />

D. Mihailov, M. Serban, M. Puiu, S. Arghirescu, W. Schramm; . Neurological Sequels in<br />

Haemophilia Patients. European Journal of Human Genetics, Vol. 14 Supp. 1, pp. 163, ISSN<br />

1018-4813, eISSN 1476-5438, 2006<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 3,697 în anul 2006.<br />

.<br />

G. S. Doros, M. Gafencu, M. J. Puiu, B. S. Zoica, A. L. Oprisoni; . Diagnostic issues in patients<br />

with oro-facial clefts. European Journal of Human genetics, Vol. 14 Supp. 1, pp. 149, ISSN 1018-<br />

4813, eISSN 1476-5438, 2006<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 3,697 în anul 2006..<br />

T. Marcovici, I. Sabau, I. Simedrea, M. Puiu, E. Gamaniuc; . Nevus of Ota associated with<br />

multiple Mongolian spots in infant - case report. European Journal of Human Genetics, Vol. 14<br />

Supp. 1, pp. 146, ISSN 1018-4813, eISSN 1476-5438, 2006<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 3,697 în anul 2006.<br />

V. Botiu, M. Boia, E. Boia, C. Ilie, M. Puiu, D. Iacob, A. Manea, D. Mihut; . Congenital<br />

hydrocephaly-ultrasound diagnosis. European Journal of Human Genetics, Vol. 14 Supp. 1, pp.<br />

131, ISSN 1018-4813, eISSN 1476-5438, 2006<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 3,697/2006..<br />

Vi62 M. Boia, V. Botiu, E. Boia, M. Puiu, D. Iacob, A. Manea, D. Mihut; Lobar Holoprosencephaly -<br />

positive diagnosis. European Journal of Human Genetics, Vol. 14 Supp. 1, pp. 130, ISSN 1018-<br />

4813, eISSN 1476-5438, 2006<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 3,697/ 2006.<br />

.<br />

Vi63 V. Botiu, D. Iacob, M. Boia, M. Puiu, R. Iacob, A. Manea; . Congenital malformation - a risk factor<br />

for infectious pathology. European Journal of Human Genetics, Vol. 14 Supp. 1, pp. 116, ISSN<br />

1018-4813, eISSN 1476-5438, 2006<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 3,697/2006..<br />

Vi64<br />

Vi65<br />

V. David, A. Radulescu, M. C. Popoiu, M. Puiu, E. S. Boia, O. Adam, R. Iacob. The presence of<br />

genetic disor<strong>de</strong>rs associated chest wall malformations. European Journal of Human Genetics,<br />

ISSN 1018-4813, eISSN 1476-5438. Vol. 14 Supp. 1, pp. 113, 2006<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 3,697/ 2006..<br />

Marcovici, T., Sabau, I., Simedrea, I., Puiu, M., Tudorache, R., Gamaniuc, E., Lesovici, M.,<br />

Lesovici, P., 2006, Severe microcephaly in child – case report, 2 nd Eastern European Conference<br />

on Rare Diseases and Orphan Drugs, 8-9 sept. Plovdiv, Bulgaria, pp 68, 2006<br />

9


Vi66<br />

Maria Puiu, Doru Vasilie, Vlad - Laurentiu David, Tamara Marcovici, Delia Mihailov, Clinical<br />

and Genetic Heterogenity in Autism, Proceedings of the 2 nd Eastern European Conference on<br />

Rare Diseases and Orphan Drugs, 8-9 sept. Plovdiv, Bulgaria, pp 66, 2006<br />

Vi67 Mihailov D, Serban M, Arghirescu S, Ba<strong>de</strong>ti R, Tepeneu P, Doros G, Puiu M, Pop L,<br />

Birsasteanu F, Joint complications in Romanian haemophiliacs, Proceedings of the 2 nd Eastern<br />

European Conference on Rare Diseases and Orphan Drugs, sept. Plovdiv, pp 56, 2006<br />

Vi68<br />

Vi69<br />

Vi70<br />

Vi71<br />

Vi72<br />

Vi73<br />

Vi74<br />

Vi75<br />

Vi76<br />

Vi77<br />

Vi78<br />

Marcovici, T., Sabau, I., Simedrea, I., Puiu, M., Deformities of the skull in children: clinical<br />

markers of the polymalformative syndromes, European Journal of Human Genetics, Nature<br />

Publishing Group, vol. 13. supp. 1, pp 134, ISSN 1018-4813, eISSN 1476-5438, 2005<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 3,697 în anul 2006.<br />

.<br />

Doros, G., Puiu, M., Popoiu, A., Gafencu, M., Serban, M., Particular features of the Congenital<br />

Heart Defect in Children over more than a <strong>de</strong>ca<strong>de</strong>, European Journal of Human Genetics,<br />

Nature Publishing Group, vol. 13. supp. 1, pp 135, ISSN 1018-4813, eISSN 1476-5438, 2005<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 3,697 în anul 2006..<br />

Vasilie, D., Puiu, M., Pop, CS., Issues concerning familial inheritance of Hipospadias,<br />

European Journal of Human Genetics, Nature Publishing Group, vol. 13. supp. 1, pp 350,<br />

ISSN 1018-4813, eISSN 1476-5438, 2005<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 3,697 în anul 2006..<br />

Gafencu, M., Doros, G., Puiu, M., Micle, I., Popoiu, A., Serban, M., Laurence-Moon-Bar<strong>de</strong>t-<br />

Biedl syndrome- case presentation, European Journal of Human Genetics, Nature Publishing<br />

Group, vol. 13. supp. 1, pp 137, ISSN 1018-4813, eISSN 1476-5438, 2005<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 3,697 în anul 2006..<br />

Puiu, M., Dragan, S., Clinic and genetic heterogeneity in Ehlers-Danlos syndrome, European<br />

Journal of Human Genetics, Nature Publishing Group, vol. 13. supp. 1, pp 117, ISSN 1018-<br />

4813, eISSN 1476-5438, 2005.<br />

Jurnal cotat ISI, factor <strong>de</strong> impact 3,697 în anul 2006..<br />

Boia, M., BoŃiu, V., Boia, ES., Puiu, M., Buchişan, C., Iacob, D., Manea, A., Ne<strong>de</strong>lea, E., Isfann,<br />

F., Cojocaru, C., Clinical and evolutional remarks on the congenital hydrocephaly, European<br />

Journal of Human Genetics, 2004.<br />

Jurnal cotat ISI 2,741 - anul 2004<br />

Popoiu, A., Puiu, M., Doroş, G., Popoiu, CM., Stoicănescu, D., Mihailov, D., Familial X-linked<br />

cardiomyophaty, European Journal of Human Genetics, 2004.<br />

Jurnal cotat ISI 2,741 - anul 2004<br />

D. Vasilie, Maria Puiu, E. Ne<strong>de</strong>lea, D. Stoicănescu Clinical heterogeneity in familial syndactyly,<br />

European Journal of Human Genetics, 2004.<br />

Jurnal cotat ISI 2,741 - anul 2004<br />

Dorina Stoicănescu, Maria Puiu, Association between minor congenital anomalies and learning<br />

disabilities, European Jurnal of Human Genetics, iunie 2004.<br />

Jurnal cotat ISI 2,741 - anul 2004<br />

S. Drăgan, Maria Puiu, D. Stoicănescu, D. Mihailov, I<strong>de</strong>ntification of People with an Increased<br />

Risk of Cancer, European Jurnal of Human Genetics, ISSN 1018-4813, eISSN 1476-5438,<br />

2004. Jurnal cotat ISI 2,741 - anul 2004<br />

Maria Puiu, D. Stoicănescu, Study of a consanguineous population from Banat country,<br />

European Jurnal of Human Genetics, ISSN 1018-4813, eISSN 1476-5438, 2004.<br />

Jurnal cotat ISI 2,741 - anul 2004<br />

Vi79 M. Boia, V. BoŃiu, E.S. Boia, Maria Puiu, C. Buchişan, D. Iacob, A. Manea, E. Ne<strong>de</strong>lea, F.<br />

10


Isfann, C. Cojocaru, Lobar Holoprosencephaly – clinical and evolutional aspects, European<br />

Jurnal of Human Genetics, ISSN 1018-4813, eISSN 1476-5438, 2004.<br />

Jurnal cotat ISI 2,741 - anul 2004<br />

Vi80<br />

Vi81<br />

Vi82<br />

Vi83<br />

Vi84<br />

Vi85<br />

Vi86<br />

Mihaescu, M., Tudose, O., Zosin, I., Puiu, M., Stoicanescu, D., Belengeanu, V., Gug, C., Farcas,<br />

S., Particular chromosomal spectrum in androgen insensitivity syndromes, Annales <strong>de</strong><br />

Genetique/European Journal of Medical Genetics, Elsevier Science, 46, pp. 249, ISSN/ISBN:<br />

1769-7212, 2003. Jurnal cotat ISI, Impact factor 2003: 1.857<br />

In<strong>de</strong>xat SCOPUS, OVID, MEDLINE, ScienceDirect<br />

D. Stoicanescu, Maria Puiu, O. Tudose, V. Belengeanu, C. Gug, M. Mihaescu, M. Cucuruz,<br />

Cytogenetic follow-up study of complex structural chromosome abnormalities in ataxiatelangiectasia,<br />

European Journal of Human Genetics, vol. 11, pp. 137 – 138, ISSN 1018-4813,<br />

eISSN 1476-5438, 2003.<br />

Jurnal cotat ISI 2,278 -anul 2003<br />

Boia, M, Botiu, V, Boia, E, Puiu, M, Ilie, C, Pavel, N, Cerebral malformations-positive diagnosis.<br />

European Journal of Human Genetics, 10, pp. 276, ISSN 1018-4813, eISSN 1476-5438, 2002.<br />

Jurnal cotat ISI 1,971 - anul 2002<br />

Boia, E, Boia, M, Puiu, M, Hirschprung's disease or Meconium Plug Syndrome - a ten years<br />

experience. European Journal of Human Genetics, 10, pp. 276, ISSN 1018-4813, eISSN 1476-<br />

5438, 2002. Jurnal cotat ISI 1,971 - anul 2002<br />

Maria Puiu, Cristina BorŃun Modificări faciale şi <strong>de</strong>nto-maxilare în bolile genice<br />

Primul Congres InternaŃional <strong>de</strong> Patologie orală, ConstanŃa, 21-24 sept. 2002.<br />

Maria Puiu, Gabriela Doroş, Estera Boeriu, Radoica Golub Aspecte genetice şi clinico-evolutive<br />

în neurofibromatoză, , Al V-lea Congres naŃional <strong>de</strong> pediatrie cu participare internaŃională, Iaşi,<br />

30 mai-2 iunie 2001.<br />

Olimpia Tudose, Maria Puiu, Dorina Stoicănescu, Cristina Gug, Mirela Mihăescu, AberaŃii<br />

structurale ale cromosomilor X evi<strong>de</strong>nŃiate în amenoreea primară şi secundară Al V-lea Congres<br />

naŃional <strong>de</strong> pediatrie cu participare internaŃională, Iaşi, 30 mai-2 iunie 2001.<br />

Vi87 Maria Puiu, Vasilie Doru, Consi<strong>de</strong>ratii asupra etiologiei şi terapiei în anomaliile <strong>de</strong>getelor, Al V-<br />

lea Congres naŃional <strong>de</strong> pediatrie cu participare internaŃională, Iaşi, 30 mai-2 iunie 2001.<br />

Vi88<br />

Vi89<br />

Vi90<br />

Pop, M., Puiu, M., Stoicanescu, D., Serban, M., Particular aspects in Rubinstein Taybi<br />

syndrome, The 23rd International Congress of Pediatrics, September 9-14, Beijing, China, pp.<br />

502, 2001.<br />

Cucuruz, M., Şerban, M., Boeriu, E., Zugun, F., Costa, R., Tudose, O., Puiu, M.,<br />

ParticularităŃile sindromului <strong>de</strong> imuno<strong>de</strong>ficienŃă în ataxie-telangiectazie, Congresul International<br />

<strong>de</strong> Imunologie, Timişoara, pp.145, 1998.<br />

Olimpia Tudose, Mirela Moga, Maria Puiu, Dorina Stoicănescu, Cristina Gug, Valerica<br />

Belengeanu, Iudit Szabo, Observations about X Chromosome Abnormalities in Primary and<br />

Secondary Amenorrhea, pp.125., Cytogenet Cell Genet ;77:5-158 (DOI: 10.1159/000134562),<br />

1997. Jurnal cotat ISI Curent Impact Factor 2,402<br />

Lucrari -articole /studii publicate în reviste <strong>de</strong> specialitate <strong>de</strong> circulatie nationala<br />

recunoscute (Rn1, Rn2 etc.).<br />

Rn1<br />

Rn2<br />

Otilia Marginean, Dan Onet, Maria Florea, Gabriela Doros, Julieta Puiu, Oana Belei, The effects<br />

of Pamidronate in an adolescent with Osteogenesis imperfecta - case presentation, Timisoara<br />

Medical Journal, ISSN 1583-5251, vol. 58, suppl. 2, pp 243-249, 2008.<br />

Raluca Dumache, Puiu Maria, Role of gstp1 in the molecular <strong>de</strong>tection of prostate cancer,<br />

11


Timisoara Medical Journal, ISSN 1583-5251, vol. 58, suppl. 2, pp 160-165, 2008.<br />

Rn3<br />

Rn4<br />

Dumache R, Puiu M. Genomics and the new era of drug <strong>de</strong>velopment, Timisoara Medical<br />

Journal, ISSN 1583-5251, vol. 58, suppl. 2, pp 165-169, 2008.<br />

Mihailov Maria-Delia, Şerban Margit, Arghirescu Smaranda, Ursu Emilia, Puiu Maria,<br />

Pharmacoeconomics consi<strong>de</strong>rations for clinicians and pharmacologists, Timisoara Medical<br />

Journal, ISSN 1583-5251, vol. 58, suppl. 2, pp 153-157, 2008.<br />

Rn5 Maria Puiu, Dorica Dan, Raluca Dumache, Rare diseases and „orphan” drugs, Timisoara<br />

Medical Journal, ISSN 1583-5251, vol. 58, suppl. 2, pp 206-210, 2008.<br />

Rn6<br />

Rn7<br />

Rn8<br />

Rn9<br />

Rn10<br />

Rn11<br />

Rn12<br />

Rn13<br />

Rn14<br />

Rn15<br />

Ursu C. Emilia, Şerban Margit, Cucuruz Maria, Mihailov Maria-Delia, Boeriu Estera, Laura Pop,<br />

Puiu Maria, Genetics and molecular biology in Hemophilia A – general aspects, Timisoara<br />

Medical Journal, ISSN 1583-5251, vol. 58, suppl. 2, pp 175-180, 2008.<br />

Maria Puiu, Raluca Dumache, Pharmacogenetic, the genome study and the medicines<br />

<strong>de</strong>velopment, Timisoara Medical Journal, ISSN 1583-5251, vol. 58, suppl. 2, pp 2002-2006,<br />

2008.<br />

David VL, Puiu M, Boia ES, Popoiu CM, Anterior chest <strong>de</strong>formities therapy in children,<br />

Timisoara Medical Journal, ISSN 1583-5251, vol. 58, suppl. 2, pp 286-290, 2008.<br />

Tamara Marcovici, Ioan Sabau, Ioan Simedrea, Camelia Daescu, Oana Belei, Ramona<br />

Giurescu, Daniela Chiru, Maria Puiu, Empiric antibiotic therapy in pediatric septic shock,<br />

Timisoara Medical Journal, ISSN 1583-5251, vol. 58, suppl. 2, pp 263-269, 2008.<br />

Mihai Gafencu, Gabriela Doros, Ovidiu Golea, Roxana Sandru, Margit Serban, Maria Puiu,<br />

Therapeutical alternatives in nutrition of children with chronic renal failure, Timisoara Medical<br />

Journal, ISSN 1583-5251, vol. 58, suppl. 2, pp 226-233, 2008.<br />

Adrian Craciun, Ioan Sabau, Ioan Simedrea, Ioana Maris, Camelia Daescu, Daniela Chiru,<br />

Maria Puiu, Life-threatening bone marrow suppression induced by ciprofloxacin, Timisoara<br />

Medical Journal, ISSN 1583-5251, vol. 58, suppl. 2, pp 122-125, 2008.<br />

Camelia Daescu, Ioana Maris, Ioan Sabau, Ioan Simedrea, Adrian Craciun, Tamara Marcovici,<br />

Oana Belei, Maria Puiu, A<strong>de</strong>la Chirita, Therapy of urinary tract infections associated with renourinary<br />

malformations in children, Timisoara Medical Journal, ISSN 1583-5251, vol. 58, suppl. 2,<br />

pp 147-153, 2008.<br />

Puiu Maria, Margit Şerban, Raluca Dumache, Improvements in the management of ALL in<br />

children, a condition to increase the curability level of the disease, Buletin USAMV-CN,<br />

65(1-2)/2008 (-), ISSN 1454-2382, pp 430-434, Journal in<strong>de</strong>xat CAB Abstracts, ISI<br />

Proceedings, 2008.<br />

Puiu Maria, Dorica Dan, Raluca Dumache, Gabriela Anton, Natalia Cucu, Correlation of clinical,<br />

genetic and epigenetic aspects implicated in the etiology of Pra<strong>de</strong>r Willi/Angelman syndromes,<br />

Buletin USAMV-CN, 65(1-2)/2008 (-), ISSN 1454-2382, pp 435-438, Journal in<strong>de</strong>xat CAB<br />

Abstracts, ISI Proceedings, 2008.<br />

Daniela Ionescu, Bogdan Bumbacila, Carmen Cristescu, R.Dumache, Elena Galca,Corina<br />

Serban, Germaine Savoiu, Maria Puiu, Carbohydrate -<strong>de</strong>ficience transferrin and gammaglutamyl<br />

transpeptidase-markers of excessive alcohol consumption, Romanian Journal of<br />

Biophysics, volumul 18, nr.4, revista cotata CNCSIS B+, 2008.<br />

Rn16 Ramona Tutunariu, Maria Puiu – “Aspecte psihiatrice in bolile rare”, Viata Medicala Nr. 23<br />

(961) anul XX, ISSN: 1583-8862, 2008<br />

Rn17 Maria Puiu – “Bolile rare, in atentie”, Viata Medicala Nr. 2 (940) anul XX, ISSN: 1583-8862,<br />

12


2008<br />

Rn18<br />

Rn19<br />

Rn20<br />

Maria Puiu, Katalin Csep, Malformatiile congenitale izolate, Viata medicala nr. 28 (966) an XX,<br />

pp 6-7, ISSN: 1583-8862, 2008<br />

Maria Puiu, R. Dumache, Sindromul Poland, Viata medicala, nr. 34, (972) anul XX<br />

pp 6, ISSN: 1583-8862, 2008<br />

Maria Puiu, Recenzie Florica Glavan, OrtodonŃie şi ortopedie <strong>de</strong>nto-facială ViaŃa Medicală Nr.<br />

16, ISSN: 1583-8862, 2008<br />

Rn21 Maria Puiu, Bolala Chatrcot Marie Toth, Viata medicala, nr. 10, (948) anul XX, ISSN: 1583-<br />

8862, 2008<br />

Rn22 Maria Puiu, Dorica Dan – “Boli rare”, Viata Medicala Nr. 35 (921) anul XIX, ISSN: 1583-8862,<br />

2007<br />

Rn23 Maria Puiu - Ce sunt si <strong>de</strong> ce sunt “boli rare”, Viata Medicala Nr. 41 (927) anul XIX, ISSN: 1583-<br />

8862, 2007<br />

Rn24<br />

Dorica Dan, Maria Puiu – “Boli rare – prioritati”, Viata Medicala Nr. 45 (931) anul XIX, ISSN:<br />

1583-8862, 2007<br />

Rn25 Maria Puiu – “Se poate vorbi <strong>de</strong> o profilaxie a bolilor genetice rare (II)”, Viata Medicala Nr. 1<br />

(938) anul XX, ISSN: 1583-8862, 2007<br />

Rn26 Maria Puiu – “Se poate vorbi <strong>de</strong> o profilaxie a bolilor genetice rare (I)”, Viata Medicala Nr. 52<br />

(938) anul XIX, ISSN: 1583-8862, 2007<br />

Rn27<br />

Maria Puiu, Ioan Simedrea, Poli<strong>poz</strong>a a<strong>de</strong>nomatoasã familialã, Viata Medicala Nr. 46 (932) anul<br />

IXX, ISSN: 1583-8862, 2007<br />

Rn28 Maria Puiu, Recenzie, Vladimir Belis, Ligia Barbarii, Genetica judiciara, Viata medicala, nr. 33,<br />

(919) anul XIX, ISSN: 1583-8862, 17 august 2007<br />

Rn29<br />

Rn30<br />

Puiu, M., Dehelean, L., Rusu Cristina, Skrypnyk Cristina, Barbarii Ligia, Tomescu, E., Cret<br />

Victoria, Csep Katalin, The optimization of the diagnosis and management of the patients<br />

affected by mental retardation using MLPA test in the evaluation protocol, Jurnalul pediatrului,<br />

ISSN p 1221-7212, vol IX, nr. 35-36, pp. 3-5, 2006.<br />

Puiu, M., Dehelean, L., Contributions of the molecular cytogenetics to the management of the<br />

childhood ALL, 2006, Jurnalul pediatrului, ISSN p 1221-7212, vol IX, nr. 33-34, pp. 3-5, 2006<br />

Rn31 Puiu, M, Patologia genetica astazi: sperante si limite, Salajul medical, nr. 16-17, <strong>de</strong>c, pp 3-5,<br />

2006<br />

Rn32<br />

Rn33<br />

Rn34<br />

Rn35<br />

Puiu, M., Dehelean, L., Rolul investigatiilor citogenetice in diagnosticul bolilor genetice rare,<br />

Salajul medical, <strong>de</strong>c., pp 11-13, 2006<br />

M. Puiu, D. Vasilie, V.L. David, Andrei Radulescu , Pharmacogenetics: a way to a individual<br />

adapted drug therapy based on genotyp, Timisoara Medical Journal, Vol. 56, Suppliment 2, pp<br />

222, ISSN 1583-5251, 2006<br />

Maria Puiu, Liliana Vasile, Clinical and Genetic Heterogeneity in Ehlers-Danlos Syndrome,<br />

Jurnalul pediatrului, ISSN p 1221-7212, vol. VIII, nr. 31-32, pp. 3-6, 2005<br />

A. Rădulescu, RE Iacob, ES Boia, O. Adam, V. David, Maria Puiu, The importance of EP<br />

(Endothelial Cells) in Hemangiomas, Brief Report, Jurnalul pediatrului, ISSN p 1221-7212, vol.<br />

VIII, nr. 31-32, pp. 38-40, 2005<br />

13


Rn36<br />

Rn37<br />

Rn38<br />

Rn39<br />

Rn40<br />

Rn41<br />

Rn42<br />

Rn43<br />

Rn44<br />

Maria Puiu, Doru Vasilie, Emil Ne<strong>de</strong>lea - Aspecte genetice în sindactilia familială, Cercetari<br />

experimentale medico-chirurgicale, ISSN 1223-1533, an IX nr. 4, pp 51-55, 2004<br />

Maria Puiu, Dorina Stoicănescu. Rolul consultului genetic în stabilirea susceptibilităŃii <strong>pentru</strong><br />

cancer. Medicina în evoluŃie, ISSN 1454-8224, 1: pp 84-86, 2004<br />

Dorina Stoicănescu, Valerica Belengeanu, Maria Puiu, Cristina Gug, Margit Serban. Predictive<br />

value of genetic markers for <strong>de</strong>tection of minimal residual in children with acute lymphoblastic<br />

leukemia. Cercetari experimentale & medico-chirurgicale , ISSN 1223-1533, An XI, Nr. 4, pp.<br />

217-220, 2004<br />

Puiu, M., Vasilie, D., Ne<strong>de</strong>lea, E., Aspecte genetice în sindactilia familială, Cercetari<br />

experimentale medico-chirurgicale, ISSN 1223-1533, 4, pp. 212-216, 2004<br />

Puiu, M., Stoicănescu, D., Elements of risk assessment and genetic counseling in cancer,<br />

Jurnalul pediatrului, ISSN p 1221-7212, VII, 25-26, pp 3-8, 2004.<br />

Socolov, D., Socolov, R., Puiu, M., The prenatal risk assessment of trisomy 21 (Down<br />

syndrome), Jurnalul pediatrului, ISSN p 1221-7212, VII, 25-26, pp 8-13, 2004.<br />

Bortun, C., Puiu, M., Modificari faciale si <strong>de</strong>nto-faciale in bolile genetice, Medicina in evolutie,<br />

ISSN 1454-8224, 1, pp 33 – 37, 2003.<br />

Socolov, D., Watrelot, A., Socolov, R.V., Puiu, M., Rolul histeroscopiei în investigarea cazurilor<br />

<strong>de</strong> eşec al tehnicilor <strong>de</strong> fertiliyare in vitro. Studiu pe 120 cazuri, Medicina in evolutie, ISSN 1454-<br />

8224, 4, pp 34 – 38, 2003.<br />

Muntean, D., Puiu, M., IoniŃă H., Consi<strong>de</strong>raŃii terapeutice noi în tratamentul leucemiei cu celule<br />

tip “Hairy”, Medicina in evolutie, ISSN 1454-8224, 4, pp 78-81, 2003.<br />

Rn45 Puiu, M., Genetica medicală, o specialitate în plină mutaŃie, Medicina in evolutie, ISSN 1454-<br />

8224, 4, pp 56-59, 2003.<br />

Rn46 Socolov, D., Puiu, M., Ecografia embriofetala normala, Medicina in evolutie, ISSN 1454-8224, 2,<br />

pp 64 – 68, 2003.<br />

Rn47 Puiu, M., Genetica in antichitatea greaca, Medicina in evolutie, ISSN 1454-8224, 1, pp 10 – 12,<br />

2003.<br />

Rn48<br />

Rn49<br />

Rn50<br />

Rn51<br />

Rn52<br />

Maria Puiu, Olimpia Tudose, Implemenarea geneticii clinice in medicina primara, imperativ al<br />

medicinei mo<strong>de</strong>rne, Timisoara Medicala, ISSN 0493-3079, vol. 52, No. 1, pp 88-90, 2002.<br />

Maria Puiu, D. Stoicanescu, Olimpia Tudose, C. Gug, V. Belengeanu, M. Mihaiescu, Analiza<br />

particularitatilor cariotipului trisomic si a factorilor <strong>de</strong> risc din sindromul Down, Timisoara<br />

Medicala, ISSN 0493-3079, vol. 52, No. 1, pp 13 -21, 2002.<br />

Olimpia Tudose, I. Munteanu, I. Cioata, Maria Puiu, Dorina Stoicanescu, Studiul anomaliilor<br />

cromosomice din esecurile <strong>de</strong> reproducere, Timisoara Medicala, ISSN 0493-3079, vol. 52 (1), pp<br />

89 -93, 2002.<br />

Maria Puiu, Dorina Stoicanescu, Olimpia Tudose, Ioana Micle, Elena Pop, Valerica<br />

Belengeanu, Cristina Gug, Consi<strong>de</strong>ratii privind factorii etiologici ai holoprozencefaliei (HPE) si<br />

conduita sfatului genetic, Cercetari experimentale & medico-chirurgicale, ISSN 1223-1533, anul<br />

IX, nr. 3, pp 268 -272, 2002.<br />

Maria Puiu, Gabriela Doros, Luminita Popescu Vranceanu Posibilitati si limite în diagnosticarea<br />

si terapia cardiopatiilor congenitale., Cercetari experimentale & medico-chirurgicale, ISSN 1223-<br />

1533, anul IX, nr. 1, pp 94-98, 2002.<br />

14


Rn53<br />

Rn54<br />

Rn55<br />

Rn56<br />

Rn57<br />

Rn58<br />

Rn59<br />

Rn60<br />

Rn61<br />

Rn62<br />

Rn63<br />

Rn64<br />

Rn65<br />

Cristina Bortun, Maria Puiu, Facial and <strong>de</strong>nto-maxillary expression in genetic dissor<strong>de</strong>rs. Journal<br />

of the Scientific Research for Oral Health Center, No. 2, pp. 23-27, ISSN 1583-5588, 2002.<br />

Maria Puiu , D. Stoicănescu, Olimpia Tudose, IndicaŃiile diagnosticului antenatal, Jurnalul<br />

Pediatrului, ISSN p 1221-7212, anul V, vol. 5, nr. 17-18, pp. 15-18, 2002.<br />

Puiu, M., Muntean, D., Distrofiiile musculare genetice si afectarea musculara cardiaca a femeilor<br />

purtatoare, Medicina in evolutie, ISSN 1454-8224, 4, pp 67 – 69, 2002.<br />

Maria Puiu , Radoica Golub, Asocierea particulară a unor anomalii ale firului <strong>de</strong> păr, Medicina în<br />

evoluŃie, ISSN 1454-8224, nr. 3, pp. 46-47, 2001.<br />

Gabriela Doroş, Maria Puiu, Aspecte genetice şi clinico-evolutive în sindromul Crouzon,<br />

Medicina în evoluŃie, ISSN 1454-8224, nr 3, pp. 41-45, 2001.<br />

Maria Cucuruz, Margit Şerban, Olimpia Tudose, Maria Puiu, Estera Boeriu, Ataxia-telangiectazia<br />

– particularităŃi <strong>de</strong> diagnostic, terapie, evoluŃie, Revista română <strong>de</strong> pediatrie, Bucuresti, ISSN<br />

1220-580 X., Vol. L, nr. 1, pp.100-105, 2001.<br />

Elena Pop, Ioana Micle, Simona Turcu, Rodica Ilie, Mihaela Avrămoiu, Lazea Ştefan, Sabău<br />

Dan, Maria Puiu, Consi<strong>de</strong>raŃii pe marginea unui caz <strong>de</strong> monstruozitate dublă asimetrică,<br />

Pediatria, Bucuresti, ISSN 1220-580 X, Vol. L, Nr. 2, pp. 259-262, 2001.<br />

Cristina BorŃun, Bratu Emanuel, Maria Puiu, Actualitati in tratamentul candidozelor orale,<br />

Medicina în evoluŃie, ISSN 1454-8224, nr. 3, pp. 48-52, 2001.<br />

Dorina Stoicanescu, Olimpia Tudose Maria Puiu, Maria Cucuruz, Margit Serban, Cristina Gug,<br />

Mirela Moga, Valerica Belengeanu, Corelatii intre modificarile cromosomice si stadiul evolutiv al<br />

ataxiei telangiectaziei, Cercetari experimentale Medico-Chirurgicale, ISSN 1223-1533, nr. 4, pp<br />

339-343, 2000.<br />

Tudose, O., Puiu, M., Serban, M., Cucuruz, M., Moga, M., 1999, Modificările cromosomice din<br />

ataxie telangiectazie (AT), indiciu <strong>pentru</strong> evaluarea evoluŃiei bolii, Jurnalul pediatrului, ISSN p<br />

1221-7212, 5-6, pp. 5-9, 1999.<br />

Puiu, M., Sabau I., Tudose, O., Anomaliile congenitale şi ereditare ale tractului urinar, Jurnalul<br />

pediatrului, ISSN p 1221-7212, 5-6, pp. 9-13, 1999.<br />

Puiu, M., Tudose, O., Serban, M., Cucuruz, M., Stoicănescu, D., Moga, M., Consi<strong>de</strong>raŃii asupra<br />

unor aspecte genetice din retinoblastom, Jurnalul pediatrului, ISSN p 1221-7212, nr. 5-6, pp. 3-5,<br />

1999.<br />

Tudose, O., Sabău, I., Nussbaum, L., Puiu, M., Moga, M., Gug, C., Stoicănescu, D., Consi<strong>de</strong>raŃii<br />

citogenetice şi clinice privind trisomia 9 parŃială. Prezentare <strong>de</strong> caz, Cercetări experimentale<br />

Medico-Chirurgicale, ISSN 1223-1533, nr. 2-3, pp. 206-209, 1999.<br />

Rn66 Puiu, M., Factorul V Lei<strong>de</strong>n, un marker al populaŃiei europene, Jurnalul pediatrului, ISSN p 1221-<br />

7212, nr. 7-8, pp. 3-4, 1999.<br />

Rn67<br />

Rn68<br />

Rn69<br />

Puiu, M., Golub, R., Aspecte genetice şi clinico-evolutive în psoriazisul copilului, Jurnalul<br />

pediatrului, ISSN p 1221-7212, nr. 7-8, pp. 4-6, 1999.<br />

BorŃun, C., Puiu, M., Diagnosticul unor sindroame genetice în serviciul stomatologic, Jurnalul<br />

pediatrului, ISSN p 1221-7212, 2, 7-8, pp 7-9, 1999.<br />

Sabău, I., Simedrea, I., Cristoi, L., Boia, E., Tănase, V., Florea, M., Puiu, M., Pop, E., Crăciun,<br />

A., Dăescu, C., Milanovici, E., Condrodistrofia punctată, forma Conradi-Hunermann, Jurnalul<br />

pediatrului, ISSN p 1221-7212, Anul II, Vol. 2, Nr. 7-8, pp 18-25, 1999.<br />

15


Rn70<br />

Rn71<br />

Rn72<br />

Rn73<br />

Rn74<br />

Tudose, O., Stoicanescu, D., Puiu, M., Muncan, M., Aportul geneticii moleculare în <strong>de</strong>limitarea<br />

spectrului genomic implicat în schizofrenie şi boala maniaco-<strong>de</strong>presivă, Proceedings/Raport la a<br />

II-a ConferinŃă NaŃională a Societatii Romane <strong>de</strong> Genetica Medicala, ConstanŃa, pp 12-16, 1999.<br />

Moga, M., Tudose, O., Zosin, I., Puiu, M., Stoicanescu, D., Jurj, L., Crista, C., Spectru<br />

cromosomial particular în sindromul cu instabilitate la androgeni; consi<strong>de</strong>raŃii clinico-citogenetice<br />

şi moleculare, Cercetări experimentale Medico-Chirurgicale, ISSN 1223-1533, 3, pp. 32-137,<br />

1998.<br />

Puiu, M., Dressler, M., Consi<strong>de</strong>ratii asupra modului <strong>de</strong> transmitere a unor caractere in populatiile<br />

izolate, Jurnalul pediatrului, ISSN p 1221-7212, 3-4, pp. 35-37, 1998.<br />

Tudose, O., Moga, M., Puiu, M., Gug, C., Stoicanescu, D., Stamoran, A., Milos, A., Aberatia<br />

structurala a cromosomului X: 46,i(Xq)-consi<strong>de</strong>rente clinico-citogenetice, Cercetari experimentale<br />

Medico-Chirurgicale, ISSN 1223-1533, 2, pp. 36-40, 1997.<br />

Puiu, M., Tudose, O., Micle, I., Moga, M., Stoicanescu, D., Gug, C., Uioreanu, S., Consi<strong>de</strong>ratii<br />

asupra unui caz <strong>de</strong> amenoree primara, Pediatria, Bucuresti, ISSN 1220-580 X, 1, pp. 99-05,<br />

1997.<br />

Rn75 Puiu, M., Tudose, O., Heterogenitatea genetica si diversitatea clinica a sindromului Ehlers –<br />

Danlos, Timisoara medicala, ISSN 0493-3079, 3 - 4, pp. 12-16, 1996.<br />

Rn76 Puiu, M., Sabau, I., Studiul unor populatii izolate din Banat, Timisoara medicala, ISSN 0493-<br />

3079, 1-2, pp. 16-18, 1996.<br />

Rn77<br />

Rn78<br />

Rn79<br />

Rn80<br />

Rn81<br />

Rn82<br />

Tudose, O., Puiu, M., Moga, M., Stoicănescu, D., Gug, C., Consi<strong>de</strong>rente privind implicaŃiile<br />

anomaliilor cromosomice în eşecurile reproductive, Cercetari experimentale Medico-Chirurgicale,<br />

ISSN 1223-1533, 2-3, pp. 29-33, 1996.<br />

Tudose, O., Puiu, M., Moga, M., Stoicanescu, D., Belengeanu, V., Szabo, I., Gug, C., Observatii<br />

privind tipologia cariotipului din sindromul Down si relatiile cu profilul somato-psihic, Timisoara<br />

Medicala, ISSN 0493-3079, 3-4, pp 33-37, 1996.<br />

Moga, M., Tudose, O., Vlad, A., Zosin, I., Puiu, M., Stoicănescu, D., Hipogonadism<br />

hipogonadotrop asociat cu <strong>de</strong>letie Y(q−), consi<strong>de</strong>ratii pe marginea unui caz, Cercetari<br />

experimentale Medico-Chirurgicale, ISSN 1223-1533, 4, pp. 24-26, 1996.<br />

Tudose, O., Moga, M., Gug, C., Puiu, M., Stoicanescu, D., Belengeanu, V., Szabo, I.,<br />

Interferente ale tipologiei aberatiilor cromosomilor X cu tabloul clinic din amenoreea primara,<br />

Cercetari experimentale medico-chirurgicale, ISSN 1223-1533, 4, pp. 61- 64, 1996.<br />

Tudose, O., Puiu, M., Gug, C., Moga, M., Stoicanescu, D., Rezultate ale activitatii <strong>de</strong> la<br />

Cabinetul <strong>de</strong> consult si sfat genetic, disciplina <strong>de</strong> genetica medicala, Timisoara medicala, ediŃia<br />

omagială, ISSN 0493-3079, 22-24, pp 27-35, 1995.<br />

Metea, D., Popa, I., Belengeanu, V., Puiu, M., Brega, D., Limfe<strong>de</strong>mul congenital si sindromul<br />

Turner, consi<strong>de</strong>ratii pe marginea unui caz, Timisoara Medicala, ISSN 0493-3079, 3-4, pp. 31-<br />

34, 1993.<br />

Articole/studii publicate în volumele unor manifestari stiintifice nationale (Vn1, Vn2 etc.),<br />

Vn1<br />

Vn2<br />

Maria Puiu, Margit Serban, Meto<strong>de</strong> mo<strong>de</strong>rne <strong>de</strong> diagnostic în LAL la copil, Conferinta<br />

nationala <strong>de</strong> Sanatate Publica cu participare internationala, “Prezent si Viitor in Sanatatea<br />

Publica din Romania”, Timisoara, pp 97-98, 12-14 Noiembrie 2008.<br />

Maria Puiu, Dorica Dan, Raluca Dumache, Gabriela Anton, Natalia Cucu, Consi<strong>de</strong>ratii clinice<br />

si genetice in sindroamele Pra<strong>de</strong>r Willi/Angelman, Conferinta nationala <strong>de</strong> Sanatate Publica cu<br />

16


participare internationala, Prezent si Viitor in Sanatatea Publica din Romania, pp 98,<br />

Timisoara, 12-14 Noiembrie 2008.<br />

Vn3<br />

Vn4<br />

Vn5<br />

Vn6<br />

Vn7<br />

Vn8<br />

Vn9<br />

Vn10<br />

TimisoaraTamara Marrcovici, I. Sabau, I. Simedrea, Camelia Daescu, Oana Belei, Mirela<br />

Mihaescu, Maria Puiu, Anusul ectopic la copil-marker al sindroamelor plurimalformative, A<br />

XXI-a editie a Conferintei Nationale “Zilele pediatriei iesene”, Iasi, pp 58-59, 2008<br />

Emilia C. Ursu, Margit Şerban, Estera Boeriu, Delia Mihailov, Maria Cucuruz, D. Andrei, Maria<br />

Puiu, Rolul testelor genetice în profilaxia hemofiliei A, Conferinta nationala <strong>de</strong> Sanatate<br />

Publica cu participare internationala, Conferinta nationala <strong>de</strong> Sanatate Publica cu participare<br />

internationala, Prezent si Viitor in Sanatatea Publica din Romania, pp 103, Timisoara, 12-14<br />

Noiembrie 2008.<br />

Raluca Dumache, Maria Puiu, Carmen Canciu, B. Bumbăcilă, N. Băghină, Rolul biomarkerilor<br />

tumorali în managementul cancerului, Conferinta nationala <strong>de</strong> Sanatate Publica cu participare<br />

internationala, Prezent si Viitor in Sanatatea Publica din Romania, Timisoara, pp 79-80,<br />

Timisoara, 12-14 Noiembrie 2008.<br />

Maria Puiu, D. Dan, Cristina Vladu, Cristina Isar, Bolile rare si primul esalon in combaterea lormedicul<br />

<strong>de</strong> familie, Conferinta Nationala <strong>de</strong> Medicina a Familiei, Bucuresti, Vol <strong>de</strong> rezumate,<br />

pp 45-46, 2008.<br />

M. Puiu, D. Mihailov, T. Marcovici, M. Pop, A. Tărniceru, R. Dumache, Particularitati clinicobiologice<br />

in sindromul Stiff-Man, A IV-a Conferinta Nationala <strong>de</strong> Genetica, pp. 90-91, Craiova,<br />

sept. 2008.<br />

E. Ursu. M. Serban, M. Cucuruz, M.D. Mihailov, E. Boeriu, M. Puiu, I<strong>de</strong>ntificarea femeilor<br />

purtatoare si diagnosticul prenatal in hemofilie, A IV-a Conferinta Nationala <strong>de</strong> Genetica, pp.<br />

66, Craiova, sept. 2008.<br />

M. Puiu, C. Badiu, L. Carasava, Gh. Burnei, D. Dan, M. Serban, C. Jinca, R. Dumache,<br />

Osteogeneza imperfecta, mo<strong>de</strong>l <strong>de</strong> abordare terapeutica interdisciplinara in bolile rare, A IV-a<br />

Conferinta Nationala <strong>de</strong> Genetica, pp. 36, Craiova, sept. 2008.<br />

Puiu Maria, Realizari si impedimente in implementarea Planului National al Bolilor Rare in<br />

Romania, Sim<strong>poz</strong>ionul “Trust of Trust”, pp 17, Cluj, 24 sept. 2008.<br />

Dumache R, Serban C, Puiu M. Epigenetic markers for molecular <strong>de</strong>tection of prostate cancer.<br />

ConferinŃă NaŃională <strong>de</strong> Medicină <strong>de</strong> Laborator, Bucureşti, 20-22 octombrie 2008<br />

Vn11<br />

Vn12<br />

Vn13<br />

Ramona Tutunariu, Alina Tarniceru, Maria Puiu, Particularitati ale anamnezei in psihiatria<br />

copilului si adolescentului, Conferinta Nationala cu participare internationala “Bolile rare – De la<br />

evaluarea nevoilor la stabilirea prioritatilor” Vol. Rezumate. ISBN 978-973-602-327-9, Ed.<br />

Brumar, pp 101-102, Zalau, 2-3 noimbrie 2007.<br />

D. Dan, E. Czondi, M. Puiu, Planul national <strong>de</strong> boli rare, proiectul asociatiei Pra<strong>de</strong>r Willi din<br />

Romania- „Alianta Nationala <strong>pentru</strong> Boli Rare Rromania”, Finantat <strong>de</strong> CEE Trust, Conferinta<br />

Nationala cu participare internationala “Bolile rare – De la evaluarea nevoilor la stabilirea<br />

prioritatilor” Vol. Rezumate. ISBN 978-973-602-327-9, Ed. Brumar, pp 70-82, Zalau, 2-3<br />

noimbrie 2007.<br />

Puiu Maria, Dehelean Luca, Arghirescu Smaranda, Mihailov Delia Jinca Cristian, Serban<br />

Margit, Investigatii genetice in leucemiile copilului, Al 6-lea Congres National <strong>de</strong> Medicina <strong>de</strong><br />

Laborator, Al 2-lea Sim<strong>poz</strong>ion <strong>de</strong> Imunopatologie, Sibiu, 2007.<br />

Vn14 Cristina Rusu, Elena Neagu, Maria Puiu, Cristina Skrypnyk, Vasilica Bica, Katalin Csep, I.<br />

Ivanov, Ligia Barbari, Optimizarea protocolului <strong>de</strong> evaluare a copilului cu retard mintal idiopatic<br />

prin introducerea <strong>de</strong> noi teste genetice, Al 6-lea Congres National <strong>de</strong> Medicina <strong>de</strong> Laborator, Al<br />

2-lea Sim<strong>poz</strong>ion <strong>de</strong> Imunopatologie, Sibiu, 2007.<br />

17


Vn15<br />

Vn16<br />

Vn17<br />

Vn18<br />

Maria Puiu Bolile rare – nevoi si priorităŃi, Conferinta Nationala cu participare internationala<br />

“Bolile rare – De la evaluarea nevoilor la stabilirea prioritatilor” Vol. Rezumate. ISBN 978-973-<br />

602-327-9, Ed. Brumar, pp 24-25, Zalau, 2-3 noimbrie 2007.<br />

Maria Puiu, Consecintele diagnosticului tardiv, eronat sau incomplet in bolile rare, Conferinta<br />

Nationala cu participare internationala “Bolile rare – De la evaluarea nevoilor la stabilirea<br />

prioritatilor” Vol. Rezumate. ISBN 978-973-602-327-9, Ed. Brumar, pp 26-27, Zalau, 2-3<br />

noimbrie 2007.<br />

M. Puiu, S. Arghirescu, L. A. Dehelean, M. Şerban, Utilizarea tehnicilor <strong>de</strong> citogenetica<br />

moleculara in protocolul <strong>de</strong> evaluare a copiilor cu LAL: A III-a Conferinta Nationala <strong>de</strong> Genetica<br />

Medicala, 25-27 mai Cheile Gradistei - Moeciu <strong>de</strong> Sus, 2007.<br />

A. Tărniceru, M. Puiu, ImportanŃa registrelor <strong>de</strong> boli <strong>pentru</strong> cunoaşterea epi<strong>de</strong>miologiei bolilor<br />

rare, Conferinta Nationala cu participare internationala “Bolile rare – De la evaluarea nevoilor la<br />

stabilirea prioritatilor” Vol. Rezumate. ISBN 978-973-602-327-9, Ed. Brumar, pp 42-43, Zalau,<br />

2-3 noimbrie 2007.<br />

Vn19 Maria Puiu, Alina Tarniceru, Dorica Dan, Iulia Simina, Florin Jurca, A trai cu o boala rara :<br />

dificultati comune si specifice: Conferinta Nationala cu participare internationala “Bolile rare –<br />

De la evaluarea nevoilor la stabilirea prioritatilor” Vol. Rezumate. ISBN 978-973-602-327-9, Ed.<br />

Brumar, pp 34-35, Zalau, 2-3 noimbrie 2007.<br />

Vn20<br />

Vn21<br />

Vn22<br />

Vn23<br />

Vn24<br />

Vn25<br />

Vn26<br />

Vn27<br />

Gafencu M, Doros Gabriela, Puiu Maria, Stan Violeta, Maria Sandu, Per Silvia, Abordarea<br />

orientata catre grupuri <strong>de</strong> suport al bolnavilor cu boli rare, Conferinta Nationala cu participare<br />

internationala “Bolile rare – De la evaluarea nevoilor la stabilirea prioritatilor” Vol. Rezumate.<br />

ISBN 978-973-602-327-9, Ed. Brumar, pp 48-49, Zalau, 2-3 noimbrie 2007.<br />

Estera Boeriu, Maria Puiu, Maria Cucuruz, Laura Pop, Margit Serban, Rolul ingrijirii paliative in<br />

afectiuni rare in pediatrie, Conferinta Nationala cu participare internationala “Bolile rare – De la<br />

evaluarea nevoilor la stabilirea prioritatilor” Vol. Rezumate. ISBN 978-973-602-327-9, Ed.<br />

Brumar, pp 99-101, Zalau, 2-3 noimbrie 2007.<br />

Cristina Rusu, Elena Neagu, Maria Puiu, Cristina Skrypnyk, Vasilica Bica, Katalin Csep,<br />

Victoria CreŃ, I. Ivanov, Ligia Barbarii, Evaluarea copilului cu retard mintal idiopatic - situatia<br />

actuala in Romania si perspective, Conferinta Nationala cu participare internationala “Bolile<br />

rare – De la evaluarea nevoilor la stabilirea prioritatilor” Vol. Rezumate. ISBN 978-973-602-<br />

327-9, Ed. Brumar, pp 53-54, Zalau, 2-3 noimbrie 2007.<br />

M. Puiu, A. Tărniceru, D. Dan, E. Czondi, A. Szekely, Bolile Rare, o problemă majoră <strong>de</strong><br />

sănătate publică:, Conferinta nationala <strong>de</strong> sanatate publica cu participare internationala<br />

“Oportunitati si provocari in sanatatea publica, in contextul integrarii Romaniei in Uniunea<br />

Europeana”, Timisoara, 16-18 noiembrie 2007.<br />

A. Tarniceru, M. Puiu, D. Dan, Registrul national al bolilor rare – un instrument <strong>pentru</strong> o<br />

abordare coerenta a epi<strong>de</strong>miologiei acestor boli, Conferinta nationala <strong>de</strong> sanatate publica cu<br />

participare internationala “Oportunitati si provocari in sanatatea publica, in contextul integrarii<br />

Romaniei in Uniunea Europeana”, Timisoara, 16-18 noiembrie 2007.<br />

M. Puiu , D. Dan, E. Czondi, A. Szekely, A. Tărniceru, C. Nourissier, ImportanŃa reŃelelor<br />

europene în managementul bolilor rare, Conferinta nationala <strong>de</strong> sanatate publica cu participare<br />

internationala “Oportunitati si provocari in sanatatea publica, in contextul integrarii Romaniei in<br />

Uniunea Europeana”, Timisoara, 16-18 noiembrie 2007.<br />

M. Puiu, S. Arghirescu, L.A. Dehelean, M. Şerban, Progrese şi speranŃe legate <strong>de</strong> tratamentul<br />

copiilor cu LAL, Zilele Aca<strong>de</strong>mice Timişene, ediŃia a X-a, mai, Timişoara, Timişoara Medical<br />

Journal, vol.57, suppl.2, pp 37, 2007<br />

Sîrbu Delia-Elena, Deaconu Teodora Alina, Maria Puiu, The Interplay of Genes and<br />

18


Environmental factors in thesholds for alcoholism, The 10 th International Congress for Medical<br />

Stu<strong>de</strong>nts and Young Doctors, Medis 2006, Timisoara Medical Journal, Vol. 56, Suppliment 3,<br />

pp 137, ISSN 1583-5251, 2006.<br />

Vn28<br />

Vn29<br />

M. Puiu, D. Vasilie, V.L. David, Andrei Radulescu, Farmacogenetica: spre o farmacoterapie<br />

adaptata genotipului fiecarui pacient, Al VII-lea Congres National <strong>de</strong> Farmacologie<br />

terapeutica si Toxicologie clinica (cu participare internationala), Timisoara, pp 26, mai 2006.<br />

Vasilie, D., Puiu, M., Radulescu, A., David, VL., Conditii asociate sindromului Down,<br />

necesitand abordare chirurgicala, Al-II-lea Congres <strong>de</strong> Genetica medicala, Cluj, sept. 2006<br />

Vn30 Mihailov, D, Serban, M, Arghirescu S, Ba<strong>de</strong>ti, R, Tepeneu P, Doros, G, Puiu M, Pop, L,<br />

Birsasteanu, F, Complicatii articulare la hemofilicii din Romania, Al-II-lea Congres <strong>de</strong><br />

Genetica medicala, Cluj, sept. 2006.<br />

Vn31<br />

Mihailov D, Serban M, Bãtãneant M, Bã<strong>de</strong>ti R, Puiu M, Gafencu M, Hanini S, Ursu E.,<br />

Dificultãti si erori <strong>de</strong> diagnostic într-un caz cu simptomatologie respiratorie, ConferinŃa<br />

NaŃională <strong>de</strong> Pediatrie, UrgenŃe în Pediatrie, Braşov, 2006<br />

Vn32 Puiu, M., Mihailov, D., Medicina şi genetica, <strong>de</strong> la predicŃie la prevenire, Sim<strong>poz</strong>ion „<br />

Dimensiunea actula a conceptului <strong>de</strong> preventie in practica medicala”, Zilele Aca<strong>de</strong>mice<br />

Timisene, ed. A IX-a, 26-27 mai 2005, Cercetari experimentale medico-chirurgicale, supliment<br />

1, pp. 6, 2005.<br />

Vn33<br />

Vn34<br />

Vn35<br />

Vn36<br />

Vn37<br />

Vn38<br />

Vn39<br />

Vn40<br />

Vn41<br />

Mihailov D, Serban M, Cucuruz M, Boeriu E, Puiu M, Buta S, Infectia congenitala simptomatica<br />

cu CMV, Al 7-lea Congres National <strong>de</strong> Pediatrie, pp 374, Galati, 2005.<br />

Maria Puiu, Mihai Gafencu, Violeta Stan, Gabriela Doroş, Carmen Apostol, Oana Stoicănescu,<br />

Sindromul Down, abordare multidisciplinară, Sim<strong>poz</strong>ion interdisciplinar: pediatria, neurologia şi<br />

psihiatria copilului şi adolescentului, pp 8, Timisoara, 9-10 <strong>de</strong>c. 2005.<br />

Dumitrescu, A., Stanisici, J., Puiu, M., 2004, Mo<strong>de</strong>rn methods of diagnosis and treatment in<br />

dysmorphic syndromes, The International Medical Stu<strong>de</strong>nts and Young Doctors Meeting, may<br />

2004, Universitatea <strong>de</strong> Medicină şi Farmacie “ V. Babeş“, Timişoara, Timişoara medicală, 54,<br />

Supplement 1, pp 32, 2004.<br />

Ne<strong>de</strong>la, E., Puiu, M., 2004, Particulars aspects in Duchenne muscular dystrophy, Timişoara<br />

medicală, 54, Supplement 1, pp 63, 2004.<br />

Buricea, B., Puiu, M., 2004, Ocular disor<strong>de</strong>rs in patient with Down syndrome, Timişoara<br />

medicală, 54, Supplement 1, pp 130, 2004.<br />

D Stoicănescu, M Puiu, A Popoiu, G Doroş, M Gafencu. Aspecte genetice în <strong>de</strong>fectele<br />

congenitale majore şi minore. Al III-lea Sim<strong>poz</strong>ion NaŃional <strong>de</strong> "Boli Genetice, Endocrine şi <strong>de</strong><br />

Metabolism la Copil", pp 145, ISBN 973-686-578-9, Cluj, 2004.<br />

M Puiu, G Doroş, A Popoiu, D Stoicănescu, M Gafencu, M Şerban. Rolul screening-ului în<br />

<strong>de</strong>pistarea anomaliilor cardiace congenitale. Al III-lea Sim<strong>poz</strong>ion NaŃional <strong>de</strong> "Boli Genetice,<br />

Endocrine şi <strong>de</strong> Metabolism la Copil", pp 153, ISBN 973-686-578-9, Cluj, 2004.<br />

Boia, M., Botiu, V., Puiu, M., Budisan, C., Iacob, D., Manea, A., Istfan, F., Ne<strong>de</strong>lea, E.,<br />

Cojocaru, C., Raicu, S., Observatii clinice si evolutive in hidrocefalia congenitala, Al III-lea<br />

Sim<strong>poz</strong>ion national <strong>de</strong> Boli genetice, endocrine si <strong>de</strong> metabolism la copil, Cluj, pp 150, ISBN<br />

973-686-578-9, 2004<br />

Pittner, A., Nuta, C., Botiu, V., Puiu, M., Manea, A., Observatii asupra unui nou-nascut cu<br />

prematuritate extrema provenit din genitor cu asociatie satelitica, Al III-lea Sim<strong>poz</strong>ion national<br />

<strong>de</strong> Boli genetice, endocrine si <strong>de</strong> metabolism la copil, Cluj, pp 152, ISBN 973-686-578-9, 2004<br />

19


Vn42<br />

Vn43<br />

Vn44<br />

Vn45<br />

Vn46<br />

Vn47<br />

Vn48<br />

Vn49<br />

Vn50<br />

Vn51<br />

Vn52<br />

Vn53<br />

Vn54<br />

Vn55<br />

Vn56<br />

Vn57<br />

Doros, G., Puiu, M., Popoiu, A., Gafencu, M., Serban, M., Particular features of the congenital<br />

heart <strong>de</strong>fects in children over more than a <strong>de</strong>ca<strong>de</strong>, Romanian American Pediatric Symposium,<br />

Timisoara, 2003<br />

Boia, M., BoŃiu, V., Boia, E., Ilie, C., Budişan, C., Pavel, N., Iacob, D., Puiu, M., Diagnosticul,<br />

evoluŃia şi prognosticul la un lot <strong>de</strong> pacienŃi cu agenezie parŃială <strong>de</strong> corp calos, Primul Congres<br />

naŃional <strong>de</strong> Genetică medicală, Ora<strong>de</strong>a, pp 54-55, 2002.<br />

Pop, E., Micle, I., Sabău, I., Puiu, M., Păcurar, M., Mărăzan, M., Mărginean, O., Asocieri<br />

malformative la un caz cu spina bifida toraco-lombară, Primul Congres naŃional <strong>de</strong> Genetică<br />

medicală, Ora<strong>de</strong>a, pp 61, 2002.<br />

Maria Puiu, Dorina Stoicănescu, Olimpia Tudose, Margit Şerban, Maria Cucuruz, ObservaŃii<br />

privind particularitaŃile citogenetice în ataxie telangiectazie (AT), în corelaŃie cu forma clinică şi<br />

etapa evolutivă a bolii, Primul Congres naŃional <strong>de</strong> Genetică medicală, Ora<strong>de</strong>a, pp 42-43,<br />

2002.<br />

Maria Puiu, Vasilie Doru, Variante fenotipice în diferite tipuri <strong>de</strong> sindactilii , Primul Congres<br />

naŃional <strong>de</strong> Genetică medicală, Ora<strong>de</strong>a, pp 61, 2002.<br />

Carmen Petrescu, Maria Puiu, Margit Şerban, Olimpia Tudose Aspecte clinice şi genetice în<br />

anomalii structurale ale cromosomului 18, Primul Congres naŃional <strong>de</strong> Genetică medicală,<br />

Ora<strong>de</strong>a, pp 46, 2002.<br />

El Sussi Suzane, Maria Puiu Aspecte genetice şi clinico-evolutive în cardiopatiile congenitale<br />

la copil, Medis 2002.<br />

Buricea Bogdan, Maria Puiu Diagnosticul antenatal, o metodă <strong>de</strong> reducere a anxietăŃii la<br />

gravidă, Medis 2002.<br />

Radoica Golub, V. Feier, Maria Puiu, Persa GhiŃulescu, Rodica Ilie, Otilia Mărgineanu,<br />

Probleme <strong>de</strong> diagnostic în erupŃiile pigmentare – Prezentare <strong>de</strong> caz ConferinŃa naŃională <strong>de</strong><br />

<strong>de</strong>rmatologie, Bucureşti, 27-29 septembrie 2001.<br />

Maria Puiu, Dorina Stoicănescu, Olimpia Tudose, Cristina Gug, Valerica Belengeanu, Mirela<br />

Mihăescu Analiza particularităŃilor cariotipului trisomic şi a factorilor <strong>de</strong> risc din sindromul<br />

Down, Vol. rezumate, Zilele aca<strong>de</strong>mice timişene – ediŃia a-VIII-a, pp 16-17, 2001.<br />

Maria Puiu Aspecte particulare în sindromul Rubinstein Taybi, Vol. rezumate, Zilele<br />

aca<strong>de</strong>mice timişene – ediŃia a-VIII-a, pp. 16, 2001.<br />

Maria Puiu, Radoica Golub, Gabriela Doroş, Estera Boeriu Aspecte genetice şi clinicoevolutive<br />

în neurofibromatoza Vol. rezumate, Zilele aca<strong>de</strong>mice timişene – ediŃia a-VIII-a, pp 16,<br />

2001.<br />

Maria Cucuruz, Margit Şerban, Olimpia Tudose, Maria Puiu, Estera Boeriu, Atipii citogenetice<br />

şi imunologice în ataxia-telangiectazie, Volum <strong>de</strong> rezumate, Zilele aca<strong>de</strong>mice timişene – ediŃia<br />

a-VIII-a, pp 90, 2001.<br />

Mirela Moga, Olimpia Tudose, Maria Puiu, Ioana Micle Amprenta genomică în sindromul cu<br />

micro<strong>de</strong>leŃie 15q-, consi<strong>de</strong>raŃii genetice şi clinice Volum <strong>de</strong> rezumate, Zilele aca<strong>de</strong>mice<br />

timişene – ediŃia a-VII-a, pp 16, 1999.<br />

Radoica Golub, Maria Puiu ImplicaŃii genetice în boli <strong>de</strong>rmatologice cu frecvenŃă relativ<br />

crescută în populaŃie Vol. rezumate, Zilele aca<strong>de</strong>mice timişene – ediŃia a-VII-a, pp 62, 1999.<br />

Olimpia Tudose, I. Sabău, Ioana Micle , Maria Puiu, Mirela Moga, Dorina Stoicănescu, Cristina<br />

Gug, Elena Pop, Tamara Marcovici, Anomalii cromosomice structurale însoŃite <strong>de</strong> dismorfii şi<br />

disfuncŃii particulare, Vol. rezumate, Zilele aca<strong>de</strong>mice timişene – ediŃia a-VII-a, pp 16, 1999.<br />

20


Vn58<br />

Vn59<br />

Vn60<br />

Vn61<br />

Cristina BorŃun, Maria Puiu Anomalii maxilo-faciale în sindromul Marfan Vol. rezumate, Zilele<br />

aca<strong>de</strong>mice timişene – ediŃia a-VII-a, pp 62, 1999.<br />

Urda Ileana, Maria Puiu Tehnici curente <strong>de</strong> screening şi diagnostic genetic, Vol. rezumate la a<br />

3-a Sesiune <strong>de</strong> comunicări ştiinŃifice stu<strong>de</strong>nŃeşti, MEDIS, 1999.<br />

Maria Cucuruz, Margit Şerban, Olimpia Tudose, Maria Puiu, Estera Boeriu, V. Borla,<br />

ParticularităŃi ale sindromului Louis-Barr, Vol. rezumate, Zilele aca<strong>de</strong>mice timişene – ediŃia a-<br />

VII-a, pp 48, 1999.<br />

Olimpia Tudose, I. Sabău, Liliana Nussbaum, Maria Puiu, Mirela Moga, Cristina Gug, Dorina<br />

Stoicănescu,Tamara Marcovici, Elena Pop, Consi<strong>de</strong>raŃii citogenetice şi clinice privind trisomia<br />

9 parŃială. Prezentare <strong>de</strong> caz, Vol. rezumate, Zilele aca<strong>de</strong>mice timişene – ediŃia a-VII-a, pp 62,<br />

1999.<br />

Vn62 Micle Ioana, Pop Elena, Ilie Rodica, Lazea Ş. Turcu Simona, Maria Puiu, Sabău D.<br />

Consi<strong>de</strong>raŃii pe marginea unui caz <strong>de</strong> monstruozitate dublă asimetrica, A II-a ConferinŃă<br />

NaŃională a SRGM, ConstanŃa, 7-10 oct. 1999.<br />

Vn63<br />

Vn64<br />

Vn65<br />

Vn66<br />

Vn67<br />

Vn68<br />

Vn69<br />

Vn70<br />

Vn71<br />

Vn72<br />

Vn73<br />

Vn74<br />

Vn75<br />

Maria Puiu FrecvenŃa anomaliilor congenitale în izolatele genetice din Banat, A II-a ConferinŃă<br />

NaŃională a SRGM, ConstanŃa, 7-10 oct. 1999.<br />

Maria Cucuruz, Şerban Margit, Olimpia Tudose, Puiu Maria, Boeriu Estera, Borla Valeria<br />

ImplicaŃiile clinico-evolutive, imunologice şi genetice în sindroamele cu instabilitate<br />

cromosomială A II-a ConferinŃă NaŃională a SRGM, ConstanŃa, 7-10 oct. 1999.<br />

Sabău I. Ioana Micle, Pop Elena, Lesovici P., Turcu Simona, Puiu Maria, Margineanu Otilia<br />

Consi<strong>de</strong>ratii asupra unui caz <strong>de</strong> facomatoza A II-a ConferinŃă NaŃională a SRGM, ConstanŃa,<br />

7-10 oct. 1999.<br />

Mirela Moga, Olimpia Tudose, Maria Puiu Anomalii structurale ale cromosomului X întâlnite în<br />

amenoreea secundara A II-a ConferinŃă NaŃională a SRGM, ConstanŃa, 7-10 oct. 1999.<br />

Cristina BorŃun, Maria Puiu Anomalii ale aparatului <strong>de</strong>nto-maxilar în sindroamele genetice A IIa<br />

ConferinŃă NaŃională a SRGM, ConstanŃa, 7-10 oct. 1999.<br />

Cristina BorŃun, Maria Puiu Modificări faciale în unele afecŃiuni genetice A II-a ConferinŃă<br />

NaŃională a SRGM, ConstanŃa, 7-10 oct. 1999.<br />

Maria Pop, Maria Puiu, Şerban Margit Anomalii faciale în disostoza mandibulo-facială A II-a<br />

ConferinŃă NaŃională a SRGM, ConstanŃa, 7-10 oct. 1999.<br />

Gafencu M., Doroş Gabriela, Maria Puiu, Şerban Margit Aspecte genetice şi clinico-evolutive<br />

în artrogri<strong>poz</strong>ă A II-a ConferinŃă NaŃională a SRGM, ConstanŃa, 7-10 oct. 1999.<br />

Doroş Gabriela, Gafencu M., Maria Puiu Aspecte genetice în sindromul Q-T prelungit A II-a<br />

ConferinŃă NaŃională a SRGM, ConstanŃa, 7-10 oct. 1999.<br />

Doroş Gabriela, Gafencu M., Maria Puiu Sindromul Holt Oram A II-a ConferinŃă NaŃională a<br />

SRGM, ConstanŃa, 7-10 oct. 1999.<br />

Olimpia Tudose, Mirela Moga, Maria Puiu, Andreea Başa, Ileana Urda ContribuŃia<br />

investigaŃiilor citogenetice în stabilirea etiopatogeniei ambiguităŃilor genitale. A II-a ConferinŃă<br />

NaŃională <strong>de</strong> Medicină Perinatală cu participare internaŃională, Timişoara, 7-9 oct. 1999.<br />

Boia E., Boia Mărioara, łepeneu P., Maria Puiu, Sabou D. Vestigii omfalo-mezenterice A II-a<br />

ConferinŃă NaŃională a SRGM, ConstanŃa, 7-10 oct. 1999.<br />

Boia E., Boia Mărioara, łepeneu P., Maria Puiu, Sabou D., Pancreasul inelar, A II-a<br />

21


ConferinŃă NaŃională a SRGM, ConstanŃa, 7-10 oct. 1999.<br />

Vn76 Mirela Moga, Olimpia Tudose, Maria Puiu, Sindromul cu insensibilitate la androgeni –<br />

consi<strong>de</strong>raŃii citogenetice şi clinice, Vol. rezumate la al II-lea Sim<strong>poz</strong>ion NaŃional <strong>de</strong> boli<br />

genetice, endocrine şi <strong>de</strong> metabolism la copil, Cluj, 28-30 octombrie, pp 193, 1998.<br />

Vn77<br />

Vn78<br />

Vn79<br />

Vn80<br />

Vn81<br />

Vn82<br />

Vn83<br />

Vn84<br />

Vn85<br />

Vn86<br />

Vn87<br />

Vn88<br />

Vn89<br />

Vn90<br />

Vn91<br />

Margit Serban, Maria Cucuruz, Olimpia Tudose, Maria Puiu, Estera Boeriu Aspecte<br />

citogenetice in sindroame <strong>de</strong> instabilitate cromosomiala, Vol. rezumate la al II-lea Sim<strong>poz</strong>ion<br />

NaŃional <strong>de</strong> boli genetice, endocrine şi <strong>de</strong> metabolism la copil, Cluj, pp 189, 1998.<br />

Maria Puiu, Olimpia Tudose, Mirela Moga, Disocierea dintre aspectele fenotipice si variantele<br />

citogenetice in sindromul Down, Vol. rezumate la al II-lea Sim<strong>poz</strong>ion NaŃional <strong>de</strong> boli genetice,<br />

endocrine şi <strong>de</strong> metabolism la copil, Cluj, pp 198, 1998.<br />

Maria Pop, Margareta Serban, Maria Puiu, Sindromul Treacher Collins Franceschetti, forma<br />

atipica. Vol. rezumate la al II-lea Sim<strong>poz</strong>ion NaŃional <strong>de</strong> boli genetice, endocrine şi <strong>de</strong><br />

metabolism la copil, Cluj, pp 222, 1998.<br />

Boia Eugen, Marioara Boia, Maria Puiu, Rodica Popa Sindromul Arnold Chiari III. Prezentare<br />

<strong>de</strong> caz, Vol. rezumate la al II-lea Sim<strong>poz</strong>ion NaŃional <strong>de</strong> boli genetice, endocrine şi <strong>de</strong><br />

metabolism la copil, Cluj, pp 214, 1998.<br />

Sabău I., Ioana Micle, Elena Pop, Olimpia Tudose, Maria Puiu, Rodica Ilie, Consi<strong>de</strong>raŃii<br />

etiopatogenice şi clinice pe marginea a două cazuri <strong>de</strong> holoprozencefalie, Vol. rezumate la al<br />

II-lea Sim<strong>poz</strong>ion NaŃional <strong>de</strong> boli genetice, endocrine şi <strong>de</strong> metabolism la copil, Cluj, pp 230,<br />

1998.<br />

Maria Cucuruz, Margit Şerban, Estera Boeriu, F. Zugun, Rodica Costa, Olimpia Tudose, Maria<br />

Puiu, ParticularităŃile sindromului <strong>de</strong> imuno<strong>de</strong>ficienŃă în ataxie-telangiectazie, Vol. Rezumate,<br />

Congresul <strong>de</strong> Imunologie, Timişoara, 29-30 octombrie, 1998.<br />

Cucuruz Maria, Serban Margit, Tudose Olimpia, Boeriu Estera, Puiu Maria, Ataxiatelangiectazia-cauză<br />

<strong>de</strong> anomalii citogenetice, Prima ConferinŃă NaŃională <strong>de</strong> Genetică<br />

Medicală, Iaşi, pp 68, 1998.<br />

Maria Puiu, Aspecte generale şi particulare ale patologiei în izolatele genetice din Banat, Prima<br />

ConferinŃă NaŃională <strong>de</strong> Genetică Medicală, Iaşi, 14-16 mai 1998.<br />

Olimpia Tudose, Maria Puiu, Iudit Szabo, Dorina StoicĂnescu, Mirela Moga, Cristina Gug,<br />

PosibilităŃi <strong>de</strong> evaluare a impactului dintre patogeneza moleculară şi morfologia cromosomilor<br />

Volum <strong>de</strong> rezumate la Sim<strong>poz</strong>ionul NaŃional <strong>de</strong> Fiziopatologie, Timisoara, 1997.<br />

Maria Puiu, Olimpia Tudose, Mirela Moga, Dorina Stoicanescu, Judith Szabo, Valerica<br />

Belengeanu, Cristina Gug; Consi<strong>de</strong>raŃii genetice în retinoblastom Volum <strong>de</strong> rezumate la Zilele<br />

aca<strong>de</strong>mice timişene, ediŃia a-V-a, pp 85, 1997.<br />

Anca Mot, Maria Puiu, Sabau I., Nicola T Melanomul malign - vaccinoterapie genică,<br />

Reuniune ştiinŃifică a SRGM, pp 14, Timisoara, 1996.<br />

Olimpia Tudose, Maria Puiu, Dorina Stoicanescu, Cristina Gug, Valerica Belengeanu, Judith<br />

Szabo, Mirela Moga Rezultate ale investigaŃiilor citogenetice la cabinetul <strong>de</strong> consult şi sfat<br />

genetic, Reuniune ştiinŃifică a SRGM, pp 19, Timisoara, 1996.<br />

Ioana Micle, Elena Pop, Monica Marazan, Rodica Ilie, Maria Puiu;Consi<strong>de</strong>raŃii pe marginea<br />

unui caz <strong>de</strong> Holoprozencefalie, Reuniune ştiinŃifică a SRGM, pp 8, Timisoara, 1996.<br />

Radoica Golub, Maria Puiu, Rodica Ilie, Variabilitatea genetică în sindromul Darier, Reuniune<br />

ştiinŃifică a SRGM, pp 10, Timisoara, 1996.<br />

Olimpia Tudose, Mirela Moga, Maria Puiu, Ioana Micle, Aspecte particulare ale cariotipului in<br />

22


amenoreea primară, Reuniune ştiinŃifică a SRGM, pp 18, Timisoara, 1996.<br />

Vn92<br />

Vn93<br />

Lesovici P., Sabau I., Tanase D., Maria Puiu, Nicoleta Uricanu Consi<strong>de</strong>raŃii pe marginea unui<br />

caz <strong>de</strong> sindrom Ellis van Creveld, Reuniune ştiinŃifică a SRGM, pp 2, Timisoara, 1996.<br />

Gabriela Doros, Anca Popoiu, Maria Puiu Consi<strong>de</strong>raŃii pe marginea unui caz <strong>de</strong> sindrom<br />

plurimalformativ, Reuniune ştiinŃifică a SRGM, pp 11, Timisoara, 1996.<br />

Vn94 Anca Mot, Sabau I., Maria Puiu, Perspectivele tehnicilor <strong>de</strong> genetică moleculară în screening -<br />

ul, confirmarea diagnstică şi monitorizarea hepatitelor virale, Reuniune ştiinŃifică a SRGM, pp<br />

12, Timisoara, 1996.<br />

Vn95<br />

Vn96<br />

Vn97<br />

Vn98<br />

Vn99<br />

Vn100<br />

Vn101<br />

Vn102<br />

Olimpia Tudose, Mirela Moga, Cristina Gug, Maria Puiu, Dorina Stoicanescu, Valerica<br />

Belengeanu, Iudit Szabo, InterferenŃe ale tipologiei aberaŃiilor gonosomiale cu aspectul clinic<br />

din amenoreea primară, Zilele aca<strong>de</strong>mice timisene, editia a-V-a, pp 101, 1995.<br />

Maria Puiu, Olimpia Tudose, Heterogenitatea genetica si diversitatea clinica a sindromului<br />

Ehlers-Danlos, Zilele aca<strong>de</strong>mice timisene, editia a-V-a, pp 112, 1995.<br />

Maria Puiu, Dressler M. Consi<strong>de</strong>ratii asupra modului <strong>de</strong> transmitere a unor caractere in<br />

populatiile izolate, Zilele aca<strong>de</strong>mice timisene, editia a-V-a, pp 112, 1995.<br />

Maria Puiu, Sabau I., Studiul unor populatii izolate din Banat, Zilele aca<strong>de</strong>mice timisene,<br />

editia a-V-a, pp 112, 1995.<br />

Olimpia Tudose, Mirela Moga, Maria Puiu, Dorina Stoicanescu, Valoarea investigatiilor<br />

citogenetice in stabilirea etiologiei amenoreei primare, Primul Sim<strong>poz</strong>ion naŃional <strong>de</strong> boli<br />

endocrine şi <strong>de</strong> metabolism la copil, Cluj, 1994.<br />

Sabau I., Doina Vilics, Tanase D., Maria Puiu, Sindromul EEC la copil-prezentare <strong>de</strong> caz,<br />

Primul Sim<strong>poz</strong>ion naŃional <strong>de</strong> boli endocrine şi <strong>de</strong> metabolism la copil, Cluj, 1994.<br />

Sabău I., Tănase D., Simedrea I., Valeria Belengeanu, Maria Puiu, Modificări clinice,<br />

radiologice şi <strong>de</strong> cariotip în sindromul EEC, Zilele aca<strong>de</strong>mice timisene, ed. a-III-a, 1993.<br />

Olimpia Tudose, Valerica Belengeanu, Iudit Szabo, Cristina Gug, Maria Puiu, Dorina<br />

Stoicanescu, Brigita Swellin, Evaluarea comparativa a aberatiilor cromosomice din<br />

leucemiile nonlimfatice, Zilele aca<strong>de</strong>mice timişene, ed. a-III-a, 1993.<br />

Lucrari prezentate la diferite seminarii/ex<strong>poz</strong>itii, inovatii etc. (E1, E2 etc.), dupa caz, prin<br />

care se aduc contributii la <strong>de</strong>zvoltarea domeniului în raport cu natura criteriului <strong>de</strong><br />

evaluare TP3<br />

E1<br />

E2<br />

E3<br />

E4<br />

Maria Puiu, Dorica Dan, Estera Boeriu, Raluca Dumache, Aspecte ale îngrijirii paliative în<br />

bolile rare, Realizari si impedimente in implementarea Planului National al Bolilor Rare in<br />

Romania, Conferinta : “Imbunatatirea calitatii vietii copilului obiectiv al echipei<br />

multidisciplinare hospice “, 23-24 mai, Bucuresti, 2008.<br />

Puiu M, .Şerban M, Dumache R, Improvements in the management of ALL in children, a<br />

condition to increase the curability level of the disease, International conference of cellular<br />

and tissue comparative pathology, July, 3rd - 5th, USAMV, Cluj-Napoca, 2008.<br />

Puiu M, Cucu N, Dan D, Dumache R, Correlation of clinical, genetic and epigenetic<br />

aspects implicated in the etiology of Pra<strong>de</strong>r Willi/ Angelman syndromes : mo<strong>de</strong>l of<br />

multidisciplinary abordation for rare diseases in Romania, International conference of cellular<br />

and tissue comparative pathology, july, 3rd - 5th, USAMV Cluj-Napoca, 2008.<br />

Puiu Maria, Realizari si impedimente in implementarea Planului National al Bolilor Rare in<br />

23


Romania, Sim<strong>poz</strong>ionul “Trust of Trust”, Cluj, 24 sept. 2008.<br />

E5<br />

E6<br />

E7<br />

E8<br />

E9<br />

E10<br />

E11<br />

E12<br />

E13<br />

E14<br />

Maria Puiu, Dorica Dan, Raluca Dumache, Boli rare şi medicamente “orfane”<br />

Conferinta <strong>de</strong> farmacologie, Timisoara, 24-26 sept. 2008.<br />

M. Puiu, C. Badiu, L. Carasava, Gh. Burnei, D. Dan, M. Serban, C. Jinca, R. Dumache,<br />

Osteogeneza imperfecta, mo<strong>de</strong>l <strong>de</strong> abordare terapeutica interdisciplinara in bolile rare, A IVa<br />

Conferinta Nationala <strong>de</strong> Genetica, Craiova, sept. 2008.<br />

Maria Puiu, Dorica Dan, Rolul si locul Asociatiilor <strong>de</strong> bolnavi in implementarea Planului<br />

National al bolilor rare, A IV-a Conferinta Nationala <strong>de</strong> Genetica, Craiova, sept. 2008.<br />

Maria Puiu, Seminarul : “Împreuna <strong>pentru</strong> bolile rare”, UMF Timisoara, Rare day for rares<br />

diseases, 29.02.2008.<br />

M. Puiu, D. Dan, C. Vladu, C. Isar, Bolile Rare si primul bastion in combaterea lor, medicul<br />

<strong>de</strong> familie, Conferinta nationala a medicilor <strong>de</strong> familie, Bucuresti, oct. 2008.<br />

Boeriu E, Cucuruz M, Puiu M., Damacus C., An<strong>de</strong>rca A., Ursu E, Jinca L, Serban M., Rolul<br />

ingrijirii paliative la pacientii cu tumori osoase – in v<strong>de</strong>rea cresterii calitatii vietii, a 3-a<br />

Conferinta Regionala <strong>de</strong> Pediatrie, Calitatea vietii copilului – obiectiv al echipei <strong>de</strong> ingrijiri<br />

paliative, Bucuresti 23-24 Mai 2008<br />

Tarniceru A, Puiu M, Tutunariu R, Serban M, Creating and implementing a National Registry<br />

for Rare Diseases in Romania, 3 rd Eastern European Conference on Rare Diseases and<br />

Orphan Drugs “Rare Diseases-Prevention, Diagnosis, Treatment”, Plovdiv, Bulgaria, pp 21,<br />

2008<br />

Ramona Tutunariu; Dr. Alina Tarniceru, Maria Puiu Particularitati ale anamnezei in<br />

psihiatria copilului si adolescentului, Conferinta Nationala cu participare internationala<br />

“Bolile rare – De la evaluarea nevoilor la stabilirea prioritatilor” Zalau, 2-3 noimbrie 2007.<br />

Dorica Dan, Maria Puiu, Etelka Czondi, Planul national <strong>de</strong> boli rare, Proiectul Asociatiei<br />

Pra<strong>de</strong>r Willi din Romania „Alianta Nationala <strong>pentru</strong> Boli Rare Romania”, Conferinta<br />

Nationala cu participare internationala “Bolile rare – De la evaluarea nevoilor la stabilirea<br />

prioritatilor” Zalau, 2-3 noimbrie 2007.<br />

Puiu Maria, Dehelean Luca, Arghirescu Smaranda, Mihailov Delia Jinca Cristian, Serban<br />

Margit, Investigatii genetice in leucemiile copilului, Al 6-lea Congres National <strong>de</strong> Medicina <strong>de</strong><br />

Laborator, Al 2-lea Sim<strong>poz</strong>ion <strong>de</strong> Imunopatologie, Sibiu, 2007.<br />

E15 Cristina Rusu, Elena Neagu, Maria Puiu, Cristina Skrypnyk, Vasilica Bica, Katalin Csep, I.<br />

Ivanov, Ligia Barbari, Optimizarea protocolului <strong>de</strong> evaluare a copilului cu retard mintal<br />

idiopatic prin introducerea <strong>de</strong> noi teste genetice, Al 6-lea Congres National <strong>de</strong> Medicina <strong>de</strong><br />

Laborator, Al 2-lea Sim<strong>poz</strong>ion <strong>de</strong> Imunopatologie, Sibiu, 2007.<br />

E16<br />

E17<br />

E18<br />

Maria Puiu, Bolile rare – nevoi si priorităŃi Conferinta Nationala cu participare internationala<br />

“Bolile rare – De la evaluarea nevoilor la stabilirea prioritatilor” , Zalau, 2-3 noimbrie 2007.<br />

A. Tărniceru, M. Puiu, ImportanŃa registrelor <strong>de</strong> boli <strong>pentru</strong> cunoaşterea epi<strong>de</strong>miologiei<br />

bolilor rare, Conferinta Nationala cu participare internationala “Bolile rare – De la evaluarea<br />

nevoilor la stabilirea prioritatilor” Zalau, 2-3 noimbrie 2007.<br />

Maria Puiu, Consecintele diagnosticului tardiv, eronat sau incomplet in bolile rare Conferinta<br />

Nationala cu participare internationala “Bolile rare – De la evaluarea nevoilor la stabilirea<br />

prioritatilor” , Zalau, 2-3 noimbrie 2007.<br />

E19 Maria Puiu, Alina Tarniceru, Dorica Dan, Iulia Simina, Florin Jurca, A trai cu o boala rara :<br />

dificultati comune si specifice, Conferinta Nationala cu participare internationala “Bolile rare –<br />

24


De la evaluarea nevoilor la stabilirea prioritatilor” Zalau, 2-3 noimbrie 2007.<br />

E20<br />

E21<br />

E22<br />

E23<br />

E24<br />

E25<br />

E26<br />

E27<br />

E28<br />

E29<br />

E30<br />

E31<br />

E33<br />

E34<br />

E35<br />

Cristina Rusu, Elena Neagu, Maria Puiu, Cristina Skrypnyk, Vasilica Bica, Katalin Csep,<br />

Victoria CreŃ, I. Ivanov, Ligia Barbarii, Evaluarea copilului cu retard mintal idiopatic - situatia<br />

actuala in Romania si perspective, Conferinta Nationala cu participare internationala “Bolile<br />

rare – De la evaluarea nevoilor la stabilirea prioritatilor” Zalau, 2-3 noimbrie 2007.<br />

M. Puiu, A. Tărniceru, D. Dan, E. Czondi, A. Szekely, Bolile Rare, o problemă majoră <strong>de</strong><br />

sănătate publică, Conferinta nationala <strong>de</strong> sanatate publica cu participare internationala<br />

“Oportunitati si provocari in sanatatea publica, in contextul integrarii Romaniei in Uniunea<br />

Europeana”, Timisoara, 16-18 noiembrie 2007.<br />

Tarniceru, M. Puiu, D. Dan, Registrul national al bolilor rare – un instrument <strong>pentru</strong> o<br />

abordare coerenta a epi<strong>de</strong>miologiei acestor boli, Conferinta nationala <strong>de</strong> sanatate publica cu<br />

participare internationala “Oportunitati si provocari in sanatatea publica, in contextul integrarii<br />

Romaniei in Uniunea Europeana”, Timisoara, 16-18 noiembrie 2007.<br />

M. Puiu , D. Dan, E. Czondi, A. Szekely, A. Tărniceru, C. Nourissier, ImportanŃa reŃelelor<br />

europene în managementul bolilor rare, Conferinta nationala <strong>de</strong> sanatate publica cu<br />

participare internationala “Oportunitati si provocari in sanatatea publica, in contextul integrarii<br />

Romaniei in Uniunea Europeana”, Timisoara, 16-18 noiembrie 2007.<br />

Dumitrescu, A., Stanisici, J., Puiu, M., Mo<strong>de</strong>rn methods of diagnosis and treatment in<br />

dysmorphic syndromes, Medis - The International Medical Stu<strong>de</strong>nts and Young Doctors<br />

Meeting, Timisoara, may 2004.<br />

Ne<strong>de</strong>la, E., Puiu, M., Particulars aspects in Duchenne muscular dystrophy, Medis - The<br />

International Medical Stu<strong>de</strong>nts and Young Doctors Meeting, Timisoara, may 2004.<br />

.<br />

Buricea, B., Puiu, M., Ocular disor<strong>de</strong>rs in patient with Down syndrome, Medis - The<br />

International Medical Stu<strong>de</strong>nts and Young Doctors Meeting, Timisoara, may 2004.<br />

El Sussi Suzane, Maria Puiu Aspecte genetice şi clinico-evolutive în cardiopatiile<br />

congenitale la copil, Medis - The International Medical Stu<strong>de</strong>nts and Young Doctors<br />

Meeting, Timisoara, may 2002.<br />

Buricea Bogdan, Maria Puiu Diagnosticul antenatal, o metodă <strong>de</strong> reducere a anxietăŃii la<br />

gravidă, Medis - The International Medical Stu<strong>de</strong>nts and Young Doctors Meeting, Timisoara,<br />

may 2002.<br />

Radoica Golub, V. Feier, Maria Puiu, Persa GhiŃulescu, Rodica Ilie, Otilia Mărgineanu,<br />

Probleme <strong>de</strong> diagnostic în erupŃiile pigmentare – Prezentare <strong>de</strong> caz, ConferinŃa naŃională <strong>de</strong><br />

<strong>de</strong>rmatologie, Bucureşti, 27-29 septembrie 2001.<br />

Maria Puiu, Dorina Stoicănescu, Olimpia Tudose, Cristina Gug, Valerica Belengeanu, Mirela<br />

Mihăescu Analiza particularităŃilor cariotipului trisomic şi a factorilor <strong>de</strong> risc din sindromul<br />

Down, Zilele aca<strong>de</strong>mice timişene – ediŃia a-VIII-a, 24-25 mai 2001.<br />

Maria Puiu, Radoica Golub, Gabriela Doroş, Estera Boeriu, Aspecte genetice şi clinicoevolutive<br />

în neurofibromatoză, Zilele aca<strong>de</strong>mice timişene – ediŃia a-VIII-a, 24-25 mai 2001.<br />

Olimpia Tudose, I. Sabău, Ioana Micle , Maria Puiu, Mirela Moga, Dorina Stoicănescu,<br />

Cristina Gug, Elena Pop, Tamara Marcovici Anomalii cromosomice structurale însoŃite <strong>de</strong><br />

dismorfii şi disfuncŃii particulare, Zilele aca<strong>de</strong>mice timişene – ediŃia a-VII-a, 27-28 mai 1999.<br />

Urda Ileana, Maria Puiu, Tehnici curente <strong>de</strong> screening şi diagnostic genetic, a 3-a Sesiune<br />

<strong>de</strong> comunicări ştiinŃifice stu<strong>de</strong>nŃeşti, MEDIS, 1999.<br />

Olimpia Tudose, Maria Puiu, Iudit Szabo, Dorina Stoicanescu, Mirela Moga, Cristina Gug,<br />

PosibilităŃi <strong>de</strong> evaluare a impactului dintre patogeneza moleculară şi morfologia<br />

25


cromosomilor, ed. a II-a a “Sim<strong>poz</strong>ionului NaŃional <strong>de</strong> Fiziopatologie”, Timişoara, oct. 1997.<br />

E36<br />

E37<br />

E38<br />

E39<br />

E40<br />

E41<br />

E42<br />

E43<br />

E44<br />

E45<br />

E46<br />

E47<br />

E48<br />

E49<br />

Maria Puiu, Olimpia Tudose, Mirela Moga, Dorina Stoicanescu, Judith Szabo, Valerica<br />

Belengeanu, Cristina Gug, Consi<strong>de</strong>raŃii genetice în retinoblastom, Zilele aca<strong>de</strong>mice<br />

timişene, ediŃia a-V-a, 22-24 mai 1997.<br />

Olimpia Tudose, Dorina Stoicanescu, Maria Puiu, Mihaela Muncan Raport: Aportul geneticii<br />

moleculare în <strong>de</strong>limitarea spectrului genomic implicat în schizofrenie şi boala maniaco<strong>de</strong>presivă,<br />

A II-a ConferinŃă NaŃională a SRGM, ConstanŃa, 7-10 oct. 1999.<br />

Olimpia Tudose, Mirela Moga, Maria Puiu, Andreea Başa, Ileana Urda, ContribuŃia<br />

investigaŃiilor citogenetice în stabilirea etiopatogeniei ambiguităŃilor genitale, A II-a ConferinŃă<br />

NaŃională <strong>de</strong> Medicină Perinatală cu participare internaŃională, Timişoara, 7-9 oct. 1999.<br />

Maria Cucuruz, Margit Şerban, Estera Boeriu, F. Zugun, Rodica Costa, Olimpia Tudose,<br />

Maria Puiu, ParticularităŃile sindromului <strong>de</strong> imuno<strong>de</strong>ficienŃă în ataxie-telangiectazie,<br />

Comunicată la Congresul <strong>de</strong> Imunologie, Timişoara, 29-30 octombrie, 1998.<br />

Serban, M., Cucuruz, M., Tudose, O., Puiu, M., Boeriu, E., Aspecte citogenetice in<br />

sindroame <strong>de</strong> instabilitate cromosomiala, al II-lea Sim<strong>poz</strong>ion NaŃional <strong>de</strong> boli genetice,<br />

endocrine şi <strong>de</strong> metabolism la copil, Cluj, 189, ISBN 973-9404-16-2, 1998.<br />

Sabău, I., Micle, I., Pop, E., Tudose, O., Puiu, M., Ilie, R., Consi<strong>de</strong>raŃii etiopatogenice şi<br />

clinice pe marginea a două cazuri <strong>de</strong> holoprozencefalie, al II-lea Sim<strong>poz</strong>ion NaŃional <strong>de</strong> boli<br />

genetice, endocrine şi <strong>de</strong> metabolism la copil, Cluj, 230, ISBN 973-9404-16-2, 1998.<br />

Maria Puiu. Aspecte generale si particulare ale patologiei în izolatele din Banat Zilele<br />

aca<strong>de</strong>mice timişene – ediŃia a-V-a, 22-24 mai 1997.<br />

Mirela Moga, Olimpia Tudose, Ioana Zosin, A. Vlad, Ioana Micle, Maria Puiu, Valerica<br />

Belengeanu, Judith Szabo. SemnificaŃia analizelor cromosomice în stabilirea etiologiei<br />

hipogonadismelor Zilele aca<strong>de</strong>mice timişene – ediŃia a V- a , 22-24 mai 1997.<br />

Olimpia Tudose, Maria Puiu, Dorina Stoicanescu, Mirela Moga, Cristina Gug, Judih<br />

Szabo, Valerica Belengeanu Inci<strong>de</strong>nŃa sindromului Down în raport cu tipologia cariotipului<br />

parental Zilele aca<strong>de</strong>mice timişene – ediŃia a V-a, 22-24 mai 1997.<br />

Maria Puiu, Olimpia Tudose, Mirela Moga, Dorina Stoicanescu, Judith Szabo, Valerica<br />

Belengeanu, Cristina Gug; Consi<strong>de</strong>raŃii genetice în retinoblastom Zilele aca<strong>de</strong>mice<br />

timişene, ediŃia a-V-a, 22-24 mai 1997.<br />

Olimpia Tudose, Maria Puiu, Iudit Szabo, Dorina Stoicanescu, Mirela Moga, Cristina Gug.<br />

PosibilităŃi <strong>de</strong> evaluare a impactului dintre patogeneza moleculara şi morfologia<br />

cromosomilor Comunicată la ed. a II-a a “Sim<strong>poz</strong>ionului NaŃional <strong>de</strong> Fiziopatologie”,<br />

octombrie 19-21, Timişoara, 1997.<br />

Olimpia Tudose, Mirela Moga, Maria Puiu, Cristina Gug, Dorina Stoicanescu Structural<br />

abnormalities of X chromosome in secundary amenorrhea Comunicată la al 28-lea<br />

Congres InternaŃional al SocietăŃii <strong>pentru</strong> studiul fiziopatologiei sarcinii, Timişoara, 22-25<br />

mai 1996.<br />

Olimpia Tudose, Maria Puiu, Dorina Stoicanescu, Cristina Gug, Valerica Belengeanu,<br />

Judith Szabo, Mirela Moga; Rezultate ale investigaŃiilor citogenetice la cabinetul <strong>de</strong> consult<br />

şi sfat genetic Comunicată la prima reuniune ştiinŃifică a SRGM Filiala Timiş, 22 martie<br />

1996.<br />

Ioana Micle, Elena Pop, Monica Marazan, Rodica Ilie, Maria Puiu; Consi<strong>de</strong>raŃii pe<br />

marginea unui caz <strong>de</strong> Holoprozencefalie Comunicată la prima reuniune ştiinŃifică a SRGM<br />

Filiala Timiş, 22 martie 1996.<br />

26


E50<br />

E51<br />

E52<br />

E53<br />

E57<br />

E58<br />

E59<br />

E60<br />

E61<br />

E62<br />

E63<br />

E64<br />

E65<br />

E66<br />

E67<br />

E68<br />

Radoica Golub, Maria Puiu, Rodica Ilie, Variabilitatea genetică în sindromul Darier<br />

Comunicată la prima reuniune ştiinŃifică a SRGM Filiala Timiş, 22 martie 1996.<br />

Olimpia Tudose, Mirela Moga, Maria Puiu, Ioana Micle, Aspecte particulare ale cariotipului<br />

in amenoreea primară Comunicată la prima reuniune ştiinŃifică a SRGM Filiala Timiş, 22<br />

martie 1996.<br />

Lesovici P., Sabau I., Tanase D., Maria Puiu, Nicoleta Uricanu, Consi<strong>de</strong>raŃii pe marginea<br />

unui caz <strong>de</strong> sindrom Ellis van Creveld Comunicată la prima reuniune ştiinŃifică a SRGM<br />

Filiala Timiş, 22 martie 1996.<br />

Gabriela Doros, Anca Popoiu, Maria Puiu Consi<strong>de</strong>raŃii pe marginea unui caz <strong>de</strong> sindrom<br />

plurimalformativ Comunicată la prima reuniune ştiinŃifică a SRGM Filiala Timiş, 22 martie<br />

1996.<br />

Anca Mot, Sabau I., Maria Puiu Perspectivele tehnicilor <strong>de</strong> genetică moleculară în<br />

screening - ul, confirmarea diagnstică şi monitorizarea hepatitelor virale Comunicată la<br />

prima reuniune ştiintifica a SRGM Filiala Timiş, 22 martie 1996.<br />

Anca Mot, Maria Puiu, Sabau I., Nicola T Melanomul malign - vaccinoterapie genică<br />

Comunicată la prima reuniune ştiinŃifică a SRGM Filiala Timiş, 22 martie 1996.<br />

Olimpia Tudose, Mirela Moga, Cristina Gug, Maria Puiu, Dorina Stoicanescu, Valerica<br />

Belengeanu, Iudit Szabo, InterferenŃe ale tipologiei aberaŃiilor gonosomiale cu aspectul<br />

clinic din amenoreea primară, Zilele aca<strong>de</strong>mice timisene, editia a-V-a, 25-27 mai, 1995.<br />

Maria Puiu, Olimpia Tudose, Heterogenitatea genetica si diversitatea clinica a<br />

sindromului Ehlers-Danlos, Zilele aca<strong>de</strong>mice timisene, editia a-V-a, 25-27 mai, pp. 112,<br />

1995.<br />

Maria Puiu, Dressler M. Consi<strong>de</strong>ratii asupra modului <strong>de</strong> transmitere a unor caractere in<br />

populatiile izolate, Zilele aca<strong>de</strong>mice timisene, editia a-V-a, 25-27 mai, pp. 112, 1995.<br />

Maria Puiu, Sabau I. Studiul unor populatii izolate din Banat, Zilele aca<strong>de</strong>mice timisene,<br />

editia a-V-a, 25-27 mai, pag. 112, 1995.<br />

Olimpia Tudose, Mirela Moga, Maria Puiu, Dorina Stoicanescu Valoarea investigatiilor<br />

citogenetice in stabilirea etiologiei amenoreei primare, Primul Sim<strong>poz</strong>ion naŃional <strong>de</strong> boli<br />

endocrine şi <strong>de</strong> metabolism la copil, CLUJ, 26-28 octombrie 1994.<br />

Sabău I., Tănase D., Simedrea I., Valeria Belengeanu, Maria Puiu Modificări clinice,<br />

radiologice şi <strong>de</strong> cariotip în sindromul EEC, Zilele aca<strong>de</strong>mice timisene, editia a-III-a, 20-22<br />

mai, 1993.<br />

Olimpia Tudose, Valerica Belengeanu, Iudit Szabo, Cristina Gug, Maria Puiu, Dorina<br />

Stoicanescu, Brigita Swellin Evaluarea comparativa a aberatiilor cromosomice din<br />

leucemiile nonlimfatice, Zilele aca<strong>de</strong>mice timişene-editia a-III-a, 20-22 mai 1993.<br />

Margit Şerban, Carmen Petrescu, Balaşescu, Valerica Belengeanu, Marinela Lesovici,<br />

Maria Puiu. Corelatii cito-morfologice, enzimo-clinice, imunologice şi citogenetice in LAL a<br />

copilului. Conferinta <strong>de</strong> pediatrie la a-90-a aniversare a Spitalului <strong>de</strong> copii, 11 <strong>de</strong>c.1992.<br />

Valerica Belengeanu, Cristina Gug, Dorina Stoicanescu, Maria Puiu Implicatiile<br />

translocatiilor in consultul genetic, Comunicată la Sesiunea USSM Morfopatologie, 1991.<br />

Valerica Belengeanu , Margit Serban , Rodica Mihaiescu , Maria Puiu Evi<strong>de</strong>ntierea<br />

cariotipului coloniilor <strong>de</strong> la pacientii cu anomalii citogenetice in ANLL si CML-BC<br />

Comunicată la Consfatuirea <strong>de</strong> Genetica, Craiova , 1991.<br />

27


E69<br />

Cristodorescu R., Maria Cojocaru (Puiu)<br />

Efectul bradicardizant al Verapamilului in fibrilatia atriala rapida<br />

A XXVII-a Sesiune <strong>de</strong> Comunicari a Cercurilor Stiintifice Stu<strong>de</strong>ntesti, 1985.<br />

E70 Maria Cojocaru (PUIU), Bacanu GH Aspecte farmacocinetice in hipoglicemia postterapeutica<br />

Comunicată la Congresul International <strong>de</strong> Diabetologie,Timisoara, 1985.<br />

E71<br />

E72<br />

E73<br />

Bacanu GH., Maria Cojocaru (PUIU) Hipoglicemia indusă therapeutic A XXVII-a Sesiune<br />

<strong>de</strong> comunicări a Cercurilor StiinŃifice Stu<strong>de</strong>nŃeşti, 1984.<br />

Bacanu GH., Maria Cojocaru (PUIU) Hipoglicemia-o urgenŃă medicală<br />

A XXVI-a Sesiune <strong>de</strong> comunicări a Cercurilor StiinŃifice Stu<strong>de</strong>nŃeşti, 1983.<br />

Vacarescu GH., Lucia Comsa, Maria Puiu, Ulcerul duo<strong>de</strong>nal-rezultate in tratamentul cu<br />

antagonisti H2 receptorilor A XXV-a Sesiune <strong>de</strong> comunicari a Cercurilor Stiintifice<br />

Stu<strong>de</strong>ntesti, 1982.<br />

4o Proiecte <strong>de</strong> cercetare -<strong>de</strong>zvoltare ( P1, P2, etc.) pe bază <strong>de</strong> contract /grant şi alte lucrări<br />

<strong>de</strong> cercetare-<strong>de</strong>zvoltare ( F1,F2, etc.) după caz, prin care se aduc contribuŃii la <strong>de</strong>zvoltarea<br />

mediului educaŃional/cultural/economic/social etc. în raport cu natura criteriului <strong>de</strong><br />

evaluare TP4<br />

P1<br />

P2<br />

P3<br />

P4<br />

P5<br />

P6<br />

P7<br />

P8<br />

P9<br />

PWSEU.EU, 6th Framework Programme of the European Union,<br />

Contract Number LSHM-CT-2005-512136, 2007-2009<br />

Proiectul - VOR – Viabilitate = Oameni + Resurse, Programul –Cont<br />

curent in comunitate. Proiectul <strong>de</strong>zvoltat <strong>de</strong> Asociatia <strong>pentru</strong> Relatii<br />

Comunitare, sprijinit <strong>de</strong> UE prin programul Phare, componenta<br />

Dezvoltarea Sectorului ONG si <strong>de</strong> Fundatia C.S. Mott, 2007-2008<br />

Monitorizarea bolii minime reziduale în leucemiile acute limfoblastice la<br />

copil prin citometria în flux multiparametrică, CNCSIS tip A, cod 1105,<br />

2007-2008<br />

Optimizarea managementului copiilor cu LAL prin folosirea tehnicilor <strong>de</strong><br />

citogenetica moleculara (FISH) in protocolul <strong>de</strong> evaluare, CNCSIS tip A,<br />

cod 1099, 2007-2008<br />

Optimizarea diagnosticului si managementului pacientilor cu retard<br />

mintal prin introducerea in protocolul <strong>de</strong> evaluare a testului MLPA,<br />

CNCSIS cod 832, 2006-2007<br />

Impactul alimentelor functionale cu componente bioactive asupra calitatii<br />

vietii in cancerul mamar, CNCSIS tip A, cod 275, 2005-2007, Director<br />

Simona Dragan, 2006-2007<br />

Romanian National Alliance for Rare Diseases – RONARD, Trust for<br />

Civil Society for CEE, RO/IX 2006/123, 2007-2008<br />

Corelatii intre distributia parenchimatoasa a elementelor <strong>de</strong> angio-si<br />

bilioarhitectura si segmentarea lobului caudat - Baze anatomice <strong>pentru</strong><br />

chirurgia <strong>de</strong> rezectie si transplant, PNCDI 2 – Program 4 – Parteneriate,<br />

cod 2167/2007-2009<br />

Impreuna <strong>pentru</strong> oameni rari, Proiect fonduri nerambursabile Primaria<br />

Timisoara, parteneri UMF Timisoara, Org. Salvati copiii Timis, 2008-<br />

2009<br />

reprezentant<br />

specialisti APWR<br />

reprezentant<br />

specialisti APWR<br />

Manager proiect<br />

Director proiect<br />

Responsabil<br />

partener UMF<br />

Timisoara<br />

Membru echipa<br />

<strong>de</strong> cercetare<br />

Coordonator<br />

specialisti,<br />

Director adjunct<br />

Membru echipa<br />

<strong>de</strong> cercetare<br />

Director <strong>de</strong><br />

proiect<br />

28


P10<br />

P11<br />

P12<br />

P13<br />

P14<br />

P15<br />

Voluntari <strong>pentru</strong> bolile rare, Proiect fonduri nerambursabile Primaria<br />

Timisoara, parteneri UMF Timisoara, Org. Salvati copiii Timis, 2008-<br />

2009<br />

Dezvoltarea unui sistem complex <strong>de</strong> comunicare între actorii implicaŃi în<br />

managementul bolilor rare în România şi Europa<br />

PNCDI Program I<strong>de</strong>i, Workshop exploratoriu, 2008<br />

Împreuna <strong>pentru</strong> o viata mai buna <strong>pentru</strong> pacientii cu boli rare din<br />

Romania, Matra Kap Programme, finantare Ambasada Regatului łărilor<br />

<strong>de</strong> Jos. 2005-2006<br />

Rare Diseases Solidarity Project, Romanian National Alliance for Rare<br />

Diseases (RONARD), The Trust for Civil Society in Central & Eastern<br />

Europe ("CEE Trust") RO_X 2007_190, 2008 - 2009<br />

Corelarea aspectelor clinice, genetice si epigenetice implicate in<br />

etiologia sindoamelor Pra<strong>de</strong>r Willi/Angelman: mo<strong>de</strong>l <strong>de</strong> abordare<br />

multidisciplinara a bolilor rare in Romania, CNMP, Program 4 –<br />

Parteneriate in domeniile prioritare, contract 41113, 2009-2011<br />

Programul National al MSP: PII/9: Managementul Registrelor <strong>de</strong> boli<br />

cronice la copil, 2008<br />

Director <strong>de</strong><br />

proiect<br />

Membru, lector<br />

Coordonator<br />

specialisti<br />

Assistant<br />

manager<br />

Director proiect<br />

Coordonator<br />

Conf. dr. Maria Puiu<br />

29

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