2009 Vienna - European Society of Human Genetics

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Molecular basis of Mendelian disorders de Biologia, Universitat de Barcelona, CIBERER, IBUB, Barcelona, Spain. Gaucher disease is an autosomal recessive disorder. It is characterized by the accumulation of glucosylceramide in lysosomes of the mononuclear phagocyte system, attributable to glucocerebrosidase (GBA; EC3.2.1.45) deficiency. The main consequences of this disease are hepatosplenomegaly, skeletal lesions and, sometimes, neurological manifestations. It has been shown that at sub-inhibitory concentrations, several competitive inhibitors act as chemical chaperones by inducing protein stabilization and increasing enzymatic activity. We have tested the chaperone effect of two iminosugars, N-(n-nonyl)-deoxynojirimycin (NN-DNJ) and N-(n-butyl)-deoxynojirimycin (NB-DNJ), and four aminocyclitols with distinct degrees of lipophilicity on mutated GBAs. The analyses were performed on COS-7 cells transfected with ten different mutant GBA cDNAs and on patient fibroblasts with diverse genotypes. We have shown an increase in the activity of GBA with NN- DNJ, NB-DNJ and aminocyclitol 1 in stably transfected cell lines for some of the mutations and with NN-DNJ and aminocyclitol 4 in some of the patients’ fibroblasts. These promising results on specific mutations validate the use of chemical chaperones as a therapeutic approach for Gaucher disease. However, the development and analysis of new compounds is required. As a next step, we are currently analysing the abnormal intracellular trafficking of mutant glucocerebrosidases by immunohistochemical techniques and confocal microscopy. The cells are being treated with the compounds that showed to have a chaperone effect (NN-DNJ, NB-DNJ, aminocyclitol 1 and aminocyclitol 4), in order to analyse if the enzymes from treated cells can reach the lysosomes. P12.068 Generalized Atrophic Benign Epidermolysis Bullosa (GABEB), caused by a new COL A truncatious mutation in a tunisian patient L. Adala 1 , M. Gribaa 1 , I. Ben Charfeddine 1 , O. Mamai 1 , A. Mili 1 , T. Ben Lazreg 1 , M. Denguezli 2 , J. Lacour 3 , A. Saad 1 ; 1 Laboratoire de Cytogénétique, de Génétique Moléculaire et de Biologie de la Reproduction Humaines.CHU Farhat HACHED, Sousse, Tunisia, 2 Service de Dermatologie et de Vénérologie.CHU Farhat HACHED, Sousse, Tunisia, 3 Service de Dermatologie. Hôpital Archet 2, Nice, France. Generalized Atrophic Benign Epidermolysis Bullosa, GABEB (OMIM# 226650), is a nonlethal variant of junctional epidermolysis bullosa with autosomal recessive inheritance pattern. Clinically, it is characterized by blistering of the skin since birth, atrophy of the affected skin, dystrophic nails, dental anomalies and alopecia. The pathogenesis of this disorder is generally caused by mutations affecting the BPAG2/CO- L17A1 gene encoding hemidesmosomal transmembrane protein; the 180 KDa bullous pemphigoid antigen (BP180), also known as type XVII collagen.In this study we describe a Tunisian GABEB patient clinically EB affected who showed an absence of expression of BP180 at the dermal-epidermal junction revealed by immunohistochemical staining analyses using antibodies against the type XVII collagen. The COL17A1 gene sequencing has revealed a homozygous C458X mutation in exon 17 of this gene responsible of the disease. The parents’ sequencing shows a heterozygous state of this mutation. P12.069 GJB2 mutations in macedonian patients with non-syndromic hearing loss E. Sukarova Stefanovska 1 , M. Davceva-Cakar 2 , A. Momirovska 3,4 , G. D. Efremov 1 ; 1 Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Skopje, Macedonia, The Former Yugoslav Republic of, 2 Audiology Center, Clinic for Otorhinolaryngology, Medical faculty, Skopje, Macedonia, The Former Yugoslav Republic of, 3 Adrialab-Synlab, Polyclinic for laboratory medicine, Skopje, Macedonia, The Former Yugoslav Republic of, 4 Association of deaf and hard of hearing, Skopje, Macedonia, The Former Yugoslav Republic of. Hearing impairment is one of the most common sensory-neural disorders with the incidence of profound deafness in one per 1,000 births. Mutations in the GJB2 and GJB6 genes for DFNB1 locus (13q12) are responsible for about half of all cases of autosomal recessive prelingual hearing loss. Among them 35delG mutation accounts for approximately 70% of all GJB2 mutant alleles in most European populations. The aim of the study was to evaluate the frequency and type of mutations in GJB2 gene, as well as the frequency of GJB6 deletion among Macedonian patients with non-syndromic hearing loss (NSHL). We have analyzed 33 patients with prelingual NSHL. SSCP analysis following by direct sequencing in fragments where altered electrophoretic mobility was assigned was used for detection of mutations in GJB2 gene, while specific PCR using two sets of primers were used for (GJB6-D13S1830)del screening. In 12 out of 33 patients (36.4%) mutations in GJB2 gene were found. Among 22 mutated chromosomes, 15 (68.2%) carried 35delG mutation. Other common mutations Trp24Stop, Val37Ile and Arg127His, with a frequency of 6.06%, 3.0% and 1.5%, respectively, were found. (GJB6- D13S1830)del mutation was not found in our group of patients. Since high mutation rate was observed in GJB2 gene in NSHL patients, testing should be performed as a routine screening in cases with prelingual deafness. P12.070 screening of mutations in mYOc, cYP1B1 and OPtN in spanish families with glaucoma and ocular hypertension E. Borràs1 , I. Hernan1 , E. Millá2,3 , S. Duch3 , M. Carballo1 , M. Gamundi1 ; 1 2 Hospital de Terrassa, Terrassa, Spain, Hospital Clínic de Barcelona, Barcelona, Spain, 3Institut Comtal d’Oftalmologia, Barcelona, Spain. Glaucoma is a heterogeneous group of optic neuropathies and represents the second most prevalent cause of blindness worldwide, projected to affect more than 60 million people by 2010. The purpose of this study was the identification of MYOC, CYP1B1 and OPTN mutations in a Spanish population affected by different clinical forms of familial glaucoma or ocular hypertension, in order to determine the best therapeutic approach. Clinical studies were performed with ophthalmologic examination that included pachymetry-corrected intraocular pressure applanation tonometry and optical coherence tomography or Heidelberg retinal tomography. Mutation detection was performed in 202 individuals from 84 families with a positive family history of glaucoma. Screening of mutations in the MYOC gene in index patients revealed three previously reported mutations (Gln368Stop, Val426Phe and Ala427Thr) and one novel mutation (Glu218Lys). We performed CYP1B1 mutation analysis in index patients affected by primary congenital glaucoma, and six previously reported mutations were detected, namely Gly61Glu, His- 354fs, Arg368His, Thr403fs, Asp449fs and Arg469Trp. OPTN mutation screening is currently being performed and up to now we have not found any mutation associated to glaucoma. We also present phenotype-genotype correlation in relatives of patients with mutation in any of the analyzed genes. The genetic analysis helps us to provide a more accurate visual prognosis as well as appropriate genetic counselling. P12.071 molecular, hematological aspects in HbH disease H. Bagherian, S. Abdi, P. Fouladi, F. Rahiminezhad, M. Feizpour, R. Vahidi, S. Forughi, M. Heidari, S. Zenali; Dr Zenali Lab, Tehran, Islamic Republic of Iran. Background: H disease is caused by deletion or inactivation of three alpha-globin genes, People with H disease usually have moderate anaemia, but are generally thought to be asymptomatic. Some H disease patients require transfusions, and there are non deletional forms of Hb H.Here we describe hematologic feature of cases with Hb H disease. Material and Methods: In this study we have defined the molecular basis and the clinical phenotype with the alpha-globin genotype in 18 Iranian patients with HbH disease. HbH disease was diagnosed according to abnormal red cell morphology including hypochromia, HbH inclusion and persistence of HbH in Hb electrophoresis. Result: The most molecular defect was the deletional most commonly the (--/-alpha 3.7) genotype. In this study, 15 were deletional forms of Hb H (--/-alpha) who had not received any blood transfusion and three patients had the nondeletional type of hemoglobin H disease (--/alpha alpha T ) with transfusion-dependent Hb H disease. Mean MCV and MCH for deletional were 58.04 ± 4.31fl and 17.5 ± 1.2 pg respectively (range from 46.6 to 64.9 for MCV and 14.3to 19.6 for MCH). HbH was elevated significantly in all cases (mean value 9.3±5% ranging from 1.2-19.6%). HbH levels are usually higher in non deletional than in deletional, (P value
Molecular basis of Mendelian disorders Conclusion: The (--/alpha alpha T ) genotype has more severe disease than those with the(--/-alpha) and the most molecular defect was (--/alpha 3.7) . Key words: H disease, Hb H, genotype P12.072 Deletion of the HFE gene is present at the population level in sardinia G. Le Gac 1 , A. Cao 2 , R. Congiu 3 , I. Gourlaouen 1 , C. Férec 1 , M. A. Melis 4 ; 1 Inserm, U613; Etablissement Français du Sang; Centre Hospitalier Universitaire, Brest, France, 2 Istituto di Neurogenetica e Neurofarmacologia CNR, Cagliari, Italy, 3 Ospedale microcitemico ASL8, Cagliari, Italy, 4 Dipartimento Scienze biomediche e biotecnologia, Università di Cagliari, Cagliari, Italy. Introduction: Very recently, we reported the case of a woman of Sardinian descent who had a major structural alteration in the HFE gene. Molecular characterization revealed an Alu-mediated recombination causing the loss of the complete HFE gene sequence. Although homozygous for the HFE deleted allele, the woman had a phenotype similar to that seen in most women homozygous for the common p.C282Y mutation. The deletion was not detected in a cohort of iron overload patients of Northern European descent. Here, we focused on DNA from Sardinia patients. Methods: We looked for the HFE deletion by using a rearrangement specific PCR. Positive results were confirmed by QFM-PCR and sequencing. Results: The HFE deleted allele was detected in two of 24 unrelated patients. Both patients were previously viewed as homozygous for the common p.H63D variation. At diagnosis, they presented with moderate iron overloads. Conclusion/Discussion: Deletion of the complete HFE gene sequence is not private, but present at the population level in Sardinia. Additional studies have been started to ascertain the assumption of a founder effect and precisely investigate frequency of the HFE deleted allele. In future, the recognition of several individuals with the HFE deletion will provides another opportunity to better understand penetrance of the common p.C282Y/p.C282Y genotype, which remains a matter of debates. P12.073 The IVSI-5 (G◊C) β-thalassemia mutation in trans with the (delta ) cD12 (AAt>AAA) Hb A 2 NYU in an iranian family A. Amirian, M. Karimipour, A. r. Kordafshari, M. Taghavi, M. Jafarinejad, M. Mossayebzadeh, S. Fathiazar, F. Bayat, N. Saeidi, S. Zeinali; Pasteur Institute, Tehran, Islamic Republic of Iran. Beta-thalassemia is the most common hereditary disorder in Iran. The abillity to premarital screening for thalassemia is in effect in Iran since 1997.Typical heterozygous carriers of β-thalassemia have Hb A 2 >3.5, however, in some carriers of it is in normal range. Here we report the co-inheritance of β- and δ-globin gene mutations in an individual with microcytosis, hypochromia and normal Hb A 2 .Among couples refered to our lab from Primary Health Care centers (PHC) for molecular testing and prenatal diagnosis of β-thalassemia in Tehran, one individual was found to be atypical to be investigated for β-thalassemia. After obtaining informed consent,CBC and Hb electrophoresis was performed and genomic DNA was extracted from peripheral blood Leukocytes by salting out method. Amplification refractory mutation system PCR (ARMS-PCR) and direct DNA sequencing of δ-globin gene was exploited for detection of beta and delta globin gene mutations. The CBC and Hb electrophoresis pattern showed low indices and normal Hb A 2 . ARMS-PCR technique for β-globin gene mutation revealed the beta 0 IVS-I-5 (G to C) mutation. Direct DNA sequencing of δ-globin gene and hematological studies of the family members confirmed the presence of mutation in delta codon 12 (AAT > AAA) . We suggested this individual carries a delta globin gene mutation which is unable to increase the delta-globin chain output in response to beta-thalassemia. Direct DNA sequencing confirmed the co-inheritance of mutation in δ-globin gene as being codon 12 . P12.074 Identification of a new β-globin variant (β133 GtG>AtG) in a family from messina (sicily-italy) G. Lo Giudice, M. Amorini, M. A. La Rosa, C. Di Bella, V. Procopio, G. E. Calabrò, P. Romeo, L. Grasso, F. Pugliatti, C. Salpietro, L. Rigoli; Unità Operativa di Genetica ed Immunologia Pediatrica, Messina, Italy. The hemoglobinopathies, or structural Hb variants, are attributable to aminoacid substitution in either the α or non-α chain. We studied five members of a family from Messina (Sicily-Italy). The proband, a 39 years old male, was investigated because he showed a little decrease in MCV values (79 fl) and a slightly increased HbA 2 levels (3,5 %). Molecular analysis by directly sequencing of the amplified β globin gene revealed the presence of two single point mutations, a C>G transition at codon 70 (Gcc>GGc) and a G>A base substitution at codon 133 (GtG>AtG). Therefore, we examined 5 members belonging to three generations of the family. The new variant, called Hb Messina, (β133 Val>Met GtG>AtG) was identified in heterozygosis in four subjects. Moreover, Hb Hershey was identified in heterozygosis in one subject (III.2). Familiar analysis showed that G>A base substitution at codon 133 was inherited from the father (I.1). Hb Messina shows asymptomatic clinical phenotype in heterozygotes subjects (I.1, II.3, II.4 and III.1); however, two family members had slightly increased HbA 2 levels (3,5-3,6 %) and showed a little decrease in MCV values (78-79 fl). The molecular analysis of the globin genes is important to perform an accurate diagnosis in the subjects with slightly alterations of the hematogical parameters. P12.075 Genetic analysis of 31 iranian families segregating autosomal recessive hearing impairment M. A. Tabatabaiefar 1,2,3 , F. Alasti 3,4 , E. Farrokhi 2 , N. Peeters 5 , W. Wuyts 5 , M. R. Nooridaloii 1 , M. Hashemzadeh Chaleshtori 2 , G. Van Camp 3 ; 1 Department of Medical Genetics, School of Medicine, Tehran University/Medical Sciences, Tehran, Islamic Republic of Iran, 2 Cellular and Molecular Research Center, School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Islamic Republic of Iran, 3 Department of Medical Genetics, University of Antwerp, 2610, Antwerp, Belgium, 4 Natinal Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Islamic Republic of Iran, 5 Department of Medical Genetics, University hospital of Antwerp, 2610, Antwerp, Belgium. Autosomal recessive non-syndromic hearing impairment (ARNSHI) is the most common form of monogenic hearing impairment. It is a highly genetic heterogeneous disorder, as up to now 60 loci have been mapped for ARNSHI. Iran, with a high rate of consanguineous marriage is a good genetic resource for studying ARNSHI. The aim of our project is to identify novel genes or mutations for ARNSHI. A set of Iranian families suffering from ARNSHI were studied. DNA sequencing of the coding exon of GJB2, as well as linkage analysis of the DFNB1 locus was performed and linked families were excluded from further analysis. Seventeen out of 31 remaining families had S-link LOD scores higher than the threshold value for genome-wide significance of 3.3. Linkage analysis of the 14 most common ARNSHI loci was performed for all the families. To confirm linkage, further markers were genotyped in the linked families. Eight families showed linkage to 4 different loci: 4 families to DFNB4 (SLC26A4), 1 to DFNB7/11 (TMC1), 1 to DFNB9 (OTOF), 1 to DFNB2 (MYO7A) and 1 to DFNB21 (TECTA). Mutation screening of these 4 known genes is being performed in the linked families. Four SLC26A4 mutations have already been found in the DFNB4 families. The results of this study support the notion that DFNB4 ranks second after GJB2 as a cause for ARNSHI. Twelve families with S-link LOD scores higher than 3.3 not linked to any of the 14 known loci will be included into genome-wide linkage analysis studies. P12.076 Phenotype and genotype in females with pou f mutations S. Marlin1 , M. Moizard2 , A. David3 , N. Chassaing4 , M. Raynaud2 , L. Jonard1 , D. Feldmann1 , N. Loundon1 , F. Denoyelle1 , A. Toutain2 ; 1 2 Hôpital Armand Trousseau, Paris, France, Hôpital Bretonneau, Tours, France, 3 4 CHU, Nantes, France, Hôpital Purpan, Toulouse, France. X-linked deafness is a rare cause of hereditary isolated hearing impairment estimated as at least 1 or 2% of the non-syndromic hearing loss. To date 4 loci for DFN have been identified and only one gene, POU3F4 responsible for DFN3, has been cloned. In males, DFN3 is characterized by either a progressive deafness associated with peri-
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Volume 17 Supplement 2 May 2009 www
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European Society of Human Genetics
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Table of Contents spoken Presentati
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Plenary Lectures PL2.2 massive para
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Concurrent Symposia s01.1 Genome va
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Concurrent Symposia Monogenic diabe
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Concurrent Symposia invariable in t
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Concurrent Symposia s11.2 clinical,
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Concurrent Symposia s13.2 A novel g
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Concurrent Sessions c01.1 mRNA-seq
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Concurrent Sessions velopmental del
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Concurrent Sessions development of
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Concurrent Sessions c04.6 Duplicati
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Concurrent Sessions genes to be rec
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Concurrent Sessions c07.5 Prenatal
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Concurrent Sessions with familial h
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Concurrent Sessions University of W
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Concurrent Sessions with this, we f
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Concurrent Sessions had immotile ci
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Concurrent Sessions abnormal glycos
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Concurrent Sessions showers’ and
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Concurrent Sessions partial gene de
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Concurrent Sessions leads to distre
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Genetic counseling Genetics educati
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Clinical genetics and Dysmorphology
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Cytogenetics P03. cytogenetics Recu
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Cytogenetics use of metaphase analy
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Cytogenetics 2: mother’s age < fa
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Cytogenetics P03.028 HLA B27 allele
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Cytogenetics karyotype revealed a p
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Cytogenetics drome is estimated at
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Cytogenetics P03.057 Pathological c
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Cytogenetics grandmother and 2 mate
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Cytogenetics method used to detect
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Cytogenetics P03.082 High-resolutio
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Cytogenetics All detected anomalies
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Cytogenetics somy for chromosome 2.
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Cytogenetics cially in chromosome 4
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Cytogenetics (59.390.122 to 62.021.
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Cytogenetics For further characteri
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Cytogenetics 9p duplication. This c
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Cytogenetics regions with mental /d
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Cytogenetics donation program of po
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Cytogenetics P03.165 interpretation
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Cytogenetics P03.174 Deletion of th
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Cytogenetics P03.183 An atypical 7q
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Cytogenetics spermia, 11 oligosperm
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Reproductive genetics and social fa
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Reproductive genetics mosomal chang
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Reproductive genetics two cohorts w
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Reproductive genetics the 147 SC ch
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Prenatal and perinatal genetics P05
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Prenatal and perinatal genetics and
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Prenatal and perinatal genetics fro
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Prenatal and perinatal genetics dev
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Prenatal and perinatal genetics in
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Prenatal and perinatal genetics obj
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Prenatal and perinatal genetics P05
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Cancer genetics P06.005 tiling reso
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Cancer genetics tient group in whic
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Cancer genetics chronic inflammatio
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Cancer genetics licular thyroid can
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Cancer genetics also studied. In 31
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Cancer genetics tile polyposis. We
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Cancer genetics Upon recombinant ex
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Cancer genetics variant allele was
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Cancer genetics from patients with
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Cancer genetics tion (PAX5 and GATA
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Cancer genetics scribed underexpres
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Cancer genetics of the ZIC gene fam
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Cancer genetics Materials and metho
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Cancer genetics the past and it is
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Cancer genetics P06.130 spectrum an
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Cancer genetics P06.139 the role of
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Cancer genetics and MSH2 germline m
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Cancer genetics P06.155 New roles f
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Cancer genetics screening was perfo
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Cancer genetics val (DFI) than pati
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Cancer genetics is hTERC gene ampli
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Cancer genetics on chromosome regio
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Cancer genetics preferentially dupl
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Cancer cytogenetics mutations in co
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Cancer cytogenetics P07.08 molecula
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Statistical genetics, includes Mapp
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Complex traits and polygenic disord
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Evolutionary and population genetic
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Page 277 and 278: Evolutionary and population genetic
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Molecular and biochemical basis of
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Genetic analysis, linkage ans assoc
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Author Index Allanson, J.: P02.140
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Author Index 0 Barbacioru, C.: C01.
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Author Index 0 Bonneau, D.: C16.2,
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Author Index 0 Chakravarti, A.: C13
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Author Index 0 Dan, D.: P01.39, P14
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Author Index 0 Duskova, J.: P06.012
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Author Index Franke, A.: P09.056 Fr
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Author Index Grasso, R.: P02.025 Gr
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Author Index Holder-Espinasse, M.:
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Author Index Jurkiewicz, E.: C14.5
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Author Index Kooper, A. J. A.: P05.
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Author Index Li, K. J.: P11.086 Li,
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Author Index Martinet, D.: P03.095
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Author Index Moorman, A. F. M.: P16
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Author Index P10.57, P10.82 Oguzkan
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Author Index P09.054, P09.085, P09.
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Author Index P16.01 Renieri, A.: P0
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Author Index Santorelli, F.: P08.55
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Author Index Sinke, R. J.: P02.020
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Author Index Taheri, M.: P04.33, P0
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Author Index Valentino, P.: P02.064
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Author Index Wiemer-Kruel, A.: P14.
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Keyword Index 1 10q22 deletions: P0
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Keyword Index autosomal dominant re
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Keyword Index CLA: P06.073 CLCN1 ge
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Keyword Index DMD: P16.40, P16.41,
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Keyword Index gene networks: S12.2
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Keyword Index hydrocephaly: P05.11
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Keyword Index malignant hyperthermi
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Keyword Index NAT2: P12.118 natridi
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Keyword Index Polymalformations: P0
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Keyword Index Sardinia: C09.6 Sardi
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Keyword Index TNFalpha: P08.61, P09
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2009 Vienna - European Society of Human Genetics

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