2009 Vienna - European Society of Human Genetics

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Therapy for genetic disorders P14.12 systemic gene therapy for cardiomyopathy and muscular dystrophy of the BiO14.6 hamster I. Rotundo 1 , S. Faraso 1 , C. Vitiello 1 , E. De Leonibus 1 , G. Nigro 2 , G. Di Salvo 2 , D. Di Napoli 3 , S. Castaldo 3 , S. Aurino 1 , A. Auricchio 1,4 , V. Nigro 1,5 ; 1 Telethon Istitute of Genetics and Medicine, Naples, Italy, 2 A.O. Monaldi, Seconda Università degli Studi di Napoli, Naples, Italy, 3 Centro di Biofarmacologia, Ospedale A. Cardarelli, Naples, Italy, 4 Dipartimento di Pediatria, Università degli Studi di Napoli “Federico II”, Naples, Italy, 5 5Dipartimento di Patologia Generale, Seconda Università degli Studi di Napoli, Naples, Italy. The delta-sarcoglycan deficient Syrian hamster strain BIO14.6 is one of the most studied models for inherited dilated cardiomyopathy and muscular dystrophy. This carries a spontaneous deletion of the deltasarcoglycan gene promoter and first exon. Its lifespan is shortened to 10-15 months because heart slowly dilates towards heart failure. We injected the human delta-sarcoglycan cDNA by AAV2/8 by single intraperitoneal injection at two weeks of age. We obtained the body-wide restoration of delta-sarcoglycan expression associated with functional reconstitution of the sarcoglycan complex and with significant lowering of centralized nuclei and fibrosis in skeletal muscle. Motor ability and cardiac functions were rescued. Using serotype 2/8 in combination with serotype 2/1, lifespan was extended up to 22 months with sustained heart function improvement. It is know that corticosteroids have beneficial therapeutic roles in the treatment of Duchenne and Becker muscular dystrophies and sarcoglycanopathies. These drugs allow the maintenance of walking, slowing down the progression of the disease. At present, all patients with a defined diagnosis of muscular dystrophy are corticosteroid-treated. Our aim is to evaluate the combined effects of gene and glucocorticoid treatments using BIO14.6 hamsters. We treated at the age of 45 days BIO14.6 hamsters using cycles of 0.3 mg/kg deflazacort for 3 weeks followed by 3 weeks of interval without drug. The effects of the interaction were evaluated by serial echocardiography, behavioral tests and histology. P14.13 the experience of enzyme replacement therapy for mucopolysaccharidosis Vi in Belarus A. Gusina, A. Kulpanovich, V. Kuryshka, N. Gusina, E. Budzeiko, I. Naumchik; National Research and Applied Medicine Centre “Mother and Child”, Minsk, Belarus. Introduction: Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease caused by the deficiency of the arylsulfatase B (ASB). The disease is heterogeneous in clinical presentation and progression. Recently, galsulfase (Naglazyme® [BioMarin]), recombinant human ASB became available as long-term enzyme replacement therapy (ERT). Goal of this study: to present and compare the safety and efficacy of galsulfase in 2 patients presenting mild and severe phenotypes of MPS VI. Methods: two female MPS VI patients 29 and 32 years old were treated with 1.0 mg/kg galsulfase for 12 weeks. Urinary excretion of glycosaminoglycans (GAG), endurance, liver and spleen volumes, cardiac and pulmonary function were investigated. Results: Improved endurance mentioned in 4 weeks of ERT. After 12 weeks patients showed 91 and 18 m gain in 12-minute walk and 55 and 18 stair profit in 3-minute stair climb. Best results were achieved by mildly affected patient. Urinary GAG level decreased by 60% and 90% in patient with mild and severe phenotype respectively in 4 weeks and was sustained thereafter in both. Liver and spleen volumes reduced by 20% in both patients. We found slight improvement in pulmonary and cardiac function in patient with mild disease, but not in severely affected patient. There were no adverse events or allergic reactions within the period of ERT. Conclusions: ERT was well tolerated in patient with mild and severe clinical presentation of MPS VI. Biochemical response was similar in both patients, while patient with mild disease showed more rapid and significant clinical response. P14.14 Phage lambda-derived nanobioparticles; a new generation of eukaryotic gene delivery vehicles M. Khalaj-Kondori 1 , M. Sadeghizadeh 1 , M. Behmanesh 1 , P. Gill 2 ; 1 Department of Genetics, Faculty of Basic Sciences, Tarbiat Modares University, Tehran, Islamic Republic of Iran, 2 Department of Nanobiotechnology, Faculty of Basic Sciences, Tarbiat Modares University, Tehran, Islamic Republic of Iran. Attempts to treatment of diseases caused by genetic deficiencies - gene therapy- have ever faced with various challenges. One of the major challenges in this regard, is selection of a safe and proper carrier. Viral vectors are efficient gene carriers to eukaryotic cells, but, in spite of their high gene delivery efficiency, suffer from frailties such as stimulation of the immune system, likelihood of transformation of the host cells. Bacteriophages have developed significant adaptation to the immune system as they reside every where including the human body. Moreover, it was reported that bacteriophages are safe to eukaryotic cells and possess various capabilities e.g. potential of genetic manipulation and targeting which are the most important features of a potential proper delivery vehicle. In the present study, to evaluate the potency of phages as eukaryotic gene delivery vehicles, the sequence encoding the GFP was inserted into the Lambda ZAP-CMV vector, under the CMV promoter followed by in vitro packaging. The resultant phage particles were further manipulated with rat apo-transferrin as a targeting moiety to formulate directed phage lambda derived nanobioparticles. Further, the transfection efficacy of directed and non-directed phage nanobioparticles into the rat intestinal epithelial cell line IEC-18, was compared using fluorescent microscopy followed by flowcytometery. Our results highlight the potency of the phage lambda derived nanobioparticles as a new gene delivery route into eukaryotic cells in gene therapy trails. P14.15 Generating genetically engineered bone marrow stromal stem cells with reduced rate of cell death after induction of neural differentiation S. J. Mowla 1 , Z. Hajebrahimi 1 , M. Tavallaei 2 , M. Movahedin 1 , M. R. Soroush 3 ; 1 Tarbiat Modares University, Tehran, Islamic Republic of Iran, 2 Molecular Biology Research Center, Baqiyatallah Medical Sciences University, Tehran, Islamic Republic of Iran, 3 Janbazan Medical and Engineering Research Center, Tehran, Islamic Republic of Iran. Bone marrow stromal cells (BMSCs) are adult stem cells that have the potential for transdifferentiation into cell types including neuronal cells. Neural-like cells derived from BMSCs carry the potential for repairing degenerative or traumatic CNS injuries. The functional recovery of the CNS promoted by these cells, however, depends on their survival for prolonged periods following grafting into the lesion site. We have investigated the expression profile of the main regulators of neuronal survival /death during neural differentiation of BMSCs. Interestingly, the expression of p75NTR, common receptor of Neurotrophins, is absent in un-differentiated cells but is initiated by 6 hours after induction of differentiation and remained at this level by 12 hours. The expression is completely shot downed thereafter. During this period of time (6-12 hrs after differentiation) a substantial proportion of cells undergo cell death via apoptosis. Inhibition of p75NTR receptor using a small interfering RNA revealed a 3.5-fold reduction of apoptosis in neural like cells derived from rat BMSCs. The finding provides a method to increase the survival of the stem cells upon the induction of neural differentiation based on the inhibition of p75NTR receptor and provides the applicable manipulation methods in order to increase the efficiency of cell-based transplantation to cure neurodegenerative disorders. P14.16 surgical aspects in Prader-Willi patients C. M. Popoiu1 , V. L. David2 , M. Puiu1 , D. Dan3 , M. Lesovici2 , E. Ursu2 , A. Popoiu1 , E. S. Boia1 ; 1University of Medicine and Pharmacy “Victor Babes”, Timisoara, Romania, 2 3 Children’s Hospital “Louis Turcanu”, Timisoara, Romania, Prader Willi Association Romania, Zalau, Romania. Prader-Willi syndrome (PWS) is the most common genetic cause of life-threatening obesity caused by the lack of a functional paternal copy of 15q11-q13 chromosome. Main clinical features are: hypotonia and feeding difficulties in the neonatal period, hyperphagia and severe childhood obesity at an early age, short stature, varying degrees
Therapy for genetic disorders of mental deficiency, hypogonadism, scoliosis, osteoporosis and frequent pathological fractures. The aim of this study is to provide recommendation and clinical pathways for the diagnostic and management of surgical problems of PWS patient. We encountered a case of a 20 year’s old PWS female with typical obesity, short stature and mental retardation. She had a history of congenital hip dislocation, severe muscular hypotonia in infancy and a left femur fracture and delayed healing in childhood. The patient had an inactive lifestyle with low level of physical activity. Clinical exam showed unbalanced thoraco-lumbar scoliosis, lower limb length discrepancy, severe walking and equilibrium maintenance difficulties. Polysomnogram revealed sleep disordered breathing, nocturne sinusal tachycardia of 88/ min, apnea-hypopnea index 54.8/ h, mean nocturnal arterial saturation was 96% and total reduction of sleep efficiency to 28%. Surgical issues are a major concern for PWS patients and regular systematic examination is mandatory. In respect for the good clinical practice procedures we propose an orthopedic treatment, dietary intervention, psychological and educational counseling. We opened a regional data base for patients with PWS for better medical assistance efficient cost management. P14.17 the prevalence of protrombin G20210A mutation by PcR-RFLP in iranian patients with thromboembolic evidence L. Mohammadi Ziazi, Z. Mohammadtaheri, A. Rakhshan, M. Poorabdola, F. Mohammadi; National Research Institute of Tuberculosis, Tehran, Islamic Republic of Iran. Deep vein thrombosis is one of the leading causes of mortality with an annual incidence of 1 per 1000 .Interaction between multiple genetic and environmental risk factor is responsible for thromboembolic tendency. A single nucleotide exchange at position 20210 in the 3’ untranslated region of prothrombin gene which results in guanine to adenine transition. This mutation was found as the second most common genetic risk factor for venous thrombosis. The aim of this study was to determine the prevalence of this mutation in Iranian patients with a history of thromboembolism in national research institute of tuberculosis and lung disease (NRITLD) by PCR RFLP. All thromboemboli patients were from the Iranian population (n=43). The result was compared with matched control group (n=50) that were kidney donor without any known thromebophilic defects . Genomic DNA was used as a template for PCR amplification of exon 14 and PCR product was digested by HindIII enzyme. The mean age of patient was 52.7±16.1 (range 19-84). They consist of 25 (55.6%) male and 20 (44.4%) female. The mean age of control group was 42 (range 29-60). They consist of 34 male and 16 female. All the patients and controls had homozygote G/G genotype. We had no heterozygous G/A or homozygous mutation (A/A). In our study none of control subjects and none of patients were carrier for prothrombin A gene mutation which is correlate to finding of two studies in China and Thailand and support the previous report that this mutation is rare in Asia country. P14.18 combined L-Dopa and selegiline therapy greatly improves the clinical picture in segawa syndrome: A follow-up study on three siblings with a novel c1475G mutation on thyrosine Hydroxylase (tH) gene E. Yosunkaya, E. Karaca, B. Okcesiz, S. Basaran Yilmaz, G. S. Guven, M. Seven, A. Yuksel; Istanbul University, Cerrahpasa Medical School, Department of Medical Genetics, Istanbul, Turkey. Three siblings, of whom the elder are monozygotic twins, born to first cousin parents were referred for neurodevelopmental delay and diffuse dystonia. Initial physical examination of the sibs, twins at age 4 6/12 and the youngest boy 1 9/12 years, revealed body measurements below third centile. They had minor dysmorphic features, such as bifrontal narrowing, downslanting palpebral fissures, low-set ears, up-turned nostrils and retrognathia. Cognitive functions were severely retarded. Increased deep tendon reflexes, diffuse muscle atrophy and spasticity were evident. Absent of eye contact and head control, diffuse dystonia, hypokinesia, choreatetosis and tremor also noted in neurological examination. Molecular testing of tyrosine hydroxylase (TH) gene revealed a novel mutation, P492R (1475 C>G), which confirmed the diagnosis of Segawa syndrome. After the onset of L-Dopa/Carbidoba (2 mg/kg/day), no response with regard to relieve of symptoms appeared after one month of therapy. Selegiline, an agent selectively inhibits MAO-B, added to the therapy regimen, which in turn, markedly improved the clinical picture. Here, we report the follow-up period of three siblings with Segawa syndrome resulting from a novel mutation in TH gene. P14.19 Deferasirox reduced iron-load in patient with Ferroportin disease refractory to phlebotomy: a case report. T. Sura, S. Pingsuthiwong, J. Eu-ahsunthornwattana, A. Tunteeratum, K. Srichan; Ramathibodi Hospital, Bangkok, Thailand. We report a patient with a mutation in the SLC40A1 gene, which encodes the protein Ferroportin 1 (FPN1) resulting in hemochromatosis type 4 (HFE4), who has been treated with Deferasirox. He was 32 year-old when first seen, asymptomatic but with dusky complexion, and has strong family history suggestive of autosomal dominant hemochromatosis. DNA sequencing from the proband had shown a Cys326Tyr (TGC>TAC) mutation in exon 7 of the SLC40A1 gene, which is also found in the other affected family members. Although a few family members including himself had previously been treated with regular phlebotomy, his serum ferritin remained unsatisfactorily high (3,624 ng/mL), along with high transferrin saturation (137%; serum iron = 171 μg/dL; TIBC = 125 μg/dL). He was commenced on a therapeutic trial of the oral chelating agent Deferasirox (ICL670). After a period of dosage titration, his serum ferritin declined steadily, as did his transferrin saturation. At the most recent visit, one year after treatment initiation, his serum ferritin decreased to 619 ng/mL, the transferrin saturation to 75% (serum iron = 218 μg/dL; TIBC = 292 μg/dL), and no adversed reaction was noticed. Among the four defined types of primary hemochromatosis, HFE4 is the only type with autosomal dominant inheritance. It also differs from the other HFE’s in that most of the iron is deposited in the tissue making phlebotomy ineffective and potentially complicated by anemia. Iron chelating agents therefore seems to be a better option, particularly the orally administered agents as was demonstrated in this patient. P14.20 Pharmacogenetic approach to the treatment of smA patients with valproic acid and carnithin preparations V. Vakharlovsky 1 , G. Zheleznyakova 2 , A. Kiselev 1 , M. Danilova 2 , A. Glotov 1 , V. Komantsev 3 , A. Baranov 1 , V. Baranov 1 ; 1 Ott’s Institute of Obstetrics and Gynecology RAMS, Saint-Petersburg, Russian Federation, 2 Saint-Petersburg State University, Saint-Petersburg, Russian Federation, 3 Institute of Human Brain RAS, Saint-Petersburg, Russian Federation. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder, with an incidence in European populations of 1 in 10000 newborns. The telomeric survival motor neuron gene (SMN1) is the SMA disease gene, and the centromeric gene (SMN2) is the main modifier of the disease severity. Recent research suggests that valproic acid (VPA), a commonly used epilepsy drug, may be able to upregulate expression of SMN2 gene and to slow progression of the disease. Since 2003 we were involved in combined clinical trial of VPA + carnithine treatment in SMA patients. Over 60 SMA patients were collected and studied so far with at least half of them being enrolled in the trial. Liver functional activity is monitored and SMN2 gene copy number is determined by means of real-time PCR. Nerve activity testing was performed by means of electroneuromyography. Also the patients were tested on presence of (c.681 G>A) polymorphism in CYP2C19 gene contributing to VPA metabolism and thus to efficacy of treatment. Highly positive curative effects including general health improvements and progress in motion abilities were registered in SMA patients especially of the II type. The results of the study are relevant to elaboration of efficient strategy in SMA patients’ treatment.
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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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Genomics, Genomic technology and Ep
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Molecular basis of Mendelian disord
Page 315 and 316: Molecular basis of Mendelian disord
Page 351 and 352: Metabolic disorders P12.167 Pattern
Page 353 and 354: Metabolic disorders PKU. BH4 challe
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Page 363 and 364: Therapy for genetic disorders in th
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Page 369 and 370: Laboratory and quality management P
Page 371 and 372: Laboratory and quality management T
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Page 385 and 386: Genetic analysis, linkage ans assoc
Page 403 and 404: Author Index Allanson, J.: P02.140
Page 405 and 406: Author Index 0 Barbacioru, C.: C01.
Page 407 and 408: Author Index 0 Bonneau, D.: C16.2,
Page 409 and 410: Author Index 0 Chakravarti, A.: C13
Page 411 and 412: Author Index 0 Dan, D.: P01.39, P14
Page 413 and 414: Author Index 0 Duskova, J.: P06.012
Page 415 and 416: 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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