2009 Vienna - European Society of Human Genetics

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Genetic analysis, linkage ans association P17.25 Association study between variants in GAS -TAM genes and atheroma carotid plaque B. Hurtado 1 , N. Abasolo 1,2 , X. Muñoz 1 , N. García 1 , J. Krupinski 3 , P. García de Frutos 4 , N. Sala 1 ; 1 Catalan Institute of Oncology-IDIBELL, Hospitalet de LLobregat, Spain, 2 Universitat Rovira i Virgili, Reus, Spain, 3 Hospital Universitari Mútua de Terrassa, Terrassa, Spain, 4 Institute for Biomedical Research of Barcelona (IIBB-CSIC- IDIBAPS), Barcelona, Spain. Previous studies of our group indicated an association between a SNP and a haplotype of GAS6 and stroke. Carotid atherosclerosis (CA) is a common cause of stroke and recent studies suggest that pathways initiated by the interaction of the plasma vitamin K-dependent protein GAS6 with the tyrosine kinase receptors TYRO3, AXL and MERTK (TAM) may have a relevant role in atherogenesis. The aim of this study was to analyze the genetic association between SNPs and haplotypes in GAS6-TAM genes and CA. We perfomed a case-control study with 145 patients who had CA confirmed by nuclear magnetic resonance and 162 patients who suffered from cardioembolic (non atherogenic) stroke. For all patient and control samples there was information on traditional risk factors. Genotyping of 19 selected SNPs was performed by real-time PCR, using both FRET or TaqMan probes. Minor allele frequencies were different between atherogenic and non atherogenic populations for the rs2277537 and rs16971872 SNPs in TYRO3. Adjusted logistic regression (LR) analyses indicated that rs2277537 in TYRO3 and rs869016 in MERTK associated to CA, respectively increasing (OR:2.72 [0.95-7.78]) and decreasing (OR=0.39 [0.10-0.79]) the risk of CA. Linkage disequilibrium results were in concordance with the haplotype blocks described in HapMap and adjusted LR analyses revealed that the haplotypes GCTCA in TYRO3 and the ACAA in MERTK, both containing the minor allele of the associated SNPs, were also associated to CA. The association between GAS6- TAM SNPs and carotid atherosclerosis reinforce a physiological role of the GAS6-TAM pathway in atherogenesis. P17.26 the study of GATA gene tagging sNP in patients with arterial hypertension and ischemic heart disease O. G. Ivanova 1 , O. A. Makeeva 1 , A. A. Lezhnev 2 , I. V. Tsimbal’uk 3 , M. L. D´jakova 2 , K. V. Puzyrev 2 , V. A. Kazakov 2 , V. M. Shipulin 2 , V. P. Puzyrev 1,3 ; 1 Research Institute of Medical Genetics, Tomsk, Russian Federation, 2 Research Institute of Cardiology, Tomsk, Russian Federation, 3 Siberian State Medical University, Tomsk, Russian Federation. Numerous researches demonstrated that calcineurin pathway plays a crucial role in cardiac hypertrophy and progression of heart failure. The aim was to study tagging SNPs in GATA4 gene in healthy individuals and patients with cardiovascular disease and cardiac hypertrophy. We selected tagging SNP in GATA4 gene and analyzed polymorphisms rs804271, rs8191515 in promoter and rs2898293 in intron of GATA4 gene in patients with essential hypertension (n=155), ischemic heart disease (n=153), hypertension combined with diabetes mellitus 2 (n= 90) and healthy volunteers (n=285). Genotype frequencies were in accordance with Hardy-Weinberg equilibrium. Frequency of rs804271 rare allele in control group was 47%; rs8191515 - 10%; and rs2898293 - 32%. Patients did not differe from healthy subjects in GATA4 gene allele and genotypes frequencies.To further analyze the role of genetic variants in cardiac remodelling we divided patients with essential hypertension and hypertension combined diabetes mellitus 2 into subgroups with left ventricular hypertrophy (LVH) and without LVH based on the left ventricle mass index. We had not revealed differences in GATA4 gene allele and genotypes frequencies between patients with and without LVH. In our previous studies it was shown that polymorphisms in two genes of calcineurin pathway (PPP3R1 and NFATC4) may be involved in cardiac remodeling in patients with arterial hypertension. It is essential to investigate polymorphisms of calcineurin pathway genes, including tagging SNP, because functional genetic variants in these genes are still unknown. P17.27 Large scale genome wide association study identifies new genetic loci determining homocysteine levels J. B. J. van Meurs 1 , I. Cotlarciuc 2 , D. M. Waterworth 3 , F. Rivadeneira 1 , P. Vollenweider 4 , G. Waeber 4 , B. Kato 2 , M. J. Brown 5 , J. Lindemans 1 , M. Breteler 1 , X. Yuan 3 , K. Song 3 , K. Estrada 1 , T. Spector 2 , V. Mooser 3 , A. G. Uitterlinden 1 , K. R. Ahmadi 2 ; 1 ErasmusMC, Rotterdam, The Netherlands, 2 King’s college, London, United Kingdom, 3 GlaxoSmithKline, King of Prussia, PA, United States, 4 CHUV University Hospital, Lausanne, Switzerland, 5 University of Cambridge, Cambridge, United Kingdom. Elevated levels of plasma homocysteine (Hcy) are a risk factor for many common clinical conditions, including cardiovascular disease. Inter-individual variation in Hcy levels is highly heritable (h 2 ~70%), but the genetic component is poorly understood. We conducted the first genome-wide association study (GWAS) of plasma Hcy levels using four populations from Switzerland, the Netherlands and UK with a total sample size of 11,888 individuals. We identified five loci (seven independent associations) reaching genome-wide significance. Five of the seven associations were present in or near three previous candidate genes: MTHFR (rs1801133, p=2x10 -47 ; rs11121480, p=4x10 -19 ), CBS (rs6586282, p=5x10 -12 ; rs1789953, p=2x10 -11 ) and MTR (rs10925257, p=2x10 -9 ). We identified two completely novel loci including one on chromosome 16q24.3, rs908951 (p=2.1x10 -11 ), located in dipeptidase 1 (DPEP1) and one on 11q14.3, rs7130284 (p=9x10 -11 ) in the NADPH oxidase 4 gene (NOX4). Neither gene has any obvious functional link to Hcy, although 16q24.3 also contains the Fanconi anemia gene FAN- CA and the top hit in this region (rs908951) is strongly associated with FANCA mRNA levels. A strong candidate gene in the 11q14.3 region is the PSMAL gene, which is highly homologous to folate hydrolase I, which is pivotal in the uptake of folate from the diet. Collectively, the 7 independent polymorphisms account for up to 4% of the variation in Hcy. We are currently investigating the impact of the 7 variants on cardiovascular disease. Our results provide a new insight into key physiological mechanisms that might underpin many complex diseases including cardiovascular disease and highlight novel therapeutic targets. P17.28 Hunting for young-onset hypertension genes using a genomewide gene-based association method H. C. Yang1 , Y. J. Liang1 , K. M. Chiang2 , W. H. Pan2 ; 1 2 Institute of Statistical Science Academia Sinica, Taipei, Taiwan, Institute of Biomedical Sciences Academia Sinica, Taipei, Taiwan. Hypertension has high prevalence and large social impacts in various ethnic populations. Known hypertension-associated genes provide useful but not sufficient information to unravel this complex disorder. We conducted a genome-wide association study with 198 hypertensive patients and 192 normotensive controls of Han Chinese to identify novel disease genes of young-onset hypertension. All samples were genotyped with the Affymetrix Human Mapping 500K Set. A two-stage genome-wide association analysis with a SNP-based association scan at the first stage and a gene-based association scan at the second stage was performed. Logistic regression models with/without adjustments of age, gender and body mass index were fitted to infer SNP marginal effects and then a p-value combination method is applied to study gene effects. Multiple-test problem is corrected by considering a false discovery rate of one-thousandth, i.e., -log10(FDR)>3. Among 155,706 intergenic SNPs and 14,309 genes, we identify 23 intergenic SNPs and 134 genes, which contain novel genes/SNPs and known genes involved in pathways of cardiovascular disease, metabolic disease, immune disease and cell development. The identified genes cover 2 - 207 intragenic SNPs probed on Affymetrix 500K Set. A gene-expression confirmation study and a SNP-replication study are in preparation. P17.29 Novel polymorphic AluYb8 insertion in hypertension candidate gene WNK1 M. Putku 1 , K. Kepp 1 , E. Org 1 , P. Juhanson 1 , G. Veldre 1,2 , P. Kelgo 1 , D. Comas 3 , J. Bertranpetit 3 , V. Kozich 4 , E. Khusnutdinova 5 , M. Viigimaa 6 , M. Laan 1 ; 1 Institute of Molecular and Cell Biology, Tartu, Estonia, 2 Department of Cardiology, University of Tartu, Estonia, 3 Institute of Evolutionary Biology, University
Genetic analysis, linkage ans association Pompeu Fabra, Barcelona, Spain, 4 Institute of Inherited Metabolic Diseases, Charles University – First Faculty of Medicine, Prague, Czech Republic, 5 Institute of Biochemistry and Genetics, Ufa Science Center, Russian Academy of Sciences, Bashkortostan, Russian Federation, 6 Centre of Cardiology, North Estonia Medical Centre, Tallinn, Estonia. Essential hypertension with its concurrent risk to other cardiovascular diseases affects approximately 25% of population in industrialized societies. Determining the genetic component of the disease is crucial for better understanding of the molecular basis of the phenotype and for developing more effective treatment of the disease. I present the data on a novel, so far non-described human polymorphic intronic AluYb8 element located in hypertension candidate gene WNK1. WNK1 plays an important role in salt homeostasis through different mechanisms and thereby has functional importance in blood pressure regulation. Over-expression of the WNK1 gene is associated with high blood pressure. The comparative sequencing showed that the surrounding genomic region of the human-specific WNK1 Alu insertion is highly conserved between human and chimpanzee. Population genetic study targeting the distribution of the Alu insertion in 22 human population samples from Europe, Asia and Africa indicated an expansion of the Alu-bearing chromosomes in Europe and Asia. The association between the carrier status of the intronic AluYb8 element and blood pressure was studied using 1211 untreated subjects from the HYPEST cohort (Estonian population). Statistically significant association was detected between the carrier status of the WNK1 AluYb8 and systolic as well as diastolic blood pressure (linear regression testing, p= 0.01 and p=0.03, respectively). Subjects with the Alu insertion had higher blood pressure readings. Real-time PCR analysis showed that Alu insertion affects the profile of alternative WNK1 transcripts. In conclusion this study suggests a possible involvement of WNK1 intronic polymorphic AluYb8 in increasing the susceptibility to essential hypertension. P17.30 Association Between Variants in the Genes for Leptin, Leptin Receptor and Proopiomelanocortin with chronic Heart Failure in the czech Population A. Vasku1 , J. A. Bienertova Vasku2 , L. Spinarova3 , P. Bienert1 ; 1Masaryk University, Faculty of Medicine, Department of Pathological Physiology, Brno, Czech Republic, 2Masaryk University, Brno, Czech Republic, 3Masaryk University, Faculty of Medicine, 1st Clinic of Internal Medicine and Cardioangiology, Brno, Czech Republic. Background: Patients with chronic heart failure (CHF) express enhanced catabolic metabolism resulting in overall weight loss and adipokines are generally recognized to play the crucial role in adipose tissue signaling. The aim of this study was to investigate the possible associations of defined variability in leptin (dbSNP ID rs7799039), proopiomelanocortin (dbSNP ID rs3754860 and dbSNP ID rs1009388) and leptin receptor gene (dbSNP rs1137101) with CHF and evaluate their potential as the CHF susceptibility genes. Methods: The case-control study comprised a total of 372 patients of Caucasian origin with chronic heart failure (functional classes NYHA II-IV, ejection fraction (EF) < 40%) and 407 healthy controls. The subjects were genotyped for the LEP -2548 G/A, LEPR Gln223Arg and POMC RsaI (5´-UTR) and C1032G variants (intron 1) by means of PCR-based methodology. Results: No case-control differences in genotypes or allele frequencies as well as POMC haplotypes were observed between CHF patients and controls. In multivariate regression modeling, the LEPR Gln223Arg showed an independent prediction role for CHF, with the A allele being more frequent in CHF under 56y of age (p=0.0002, OR = 1.29, 95% CI = 1.089 - 1.549). Conclusions: Based on our findings, the RR genotype of LEPR Gln223Arg polymorphism might be considered a genetic marker for earlier CHF onset both in ischemic heart disease or dilated cardiomyopathy patients. However, the role of the polymorphic variants in the genes encoding for adipokines as potential CHF susceptibility genes will require further investigation to elucidate the underlying pathophysiological consequences. P17.31 combined effect of the FABP2, PPARG2 and Pc1 gene polymorhisms on the metabolic syndrome risk in a Romanian population K. Csep1 , G. Dudutz1 , M. Vitay2 , I. Pascanu1 , C. Banescu1 , L. Koranyi2 ; 1 2 University of Medicine and Pharmacy Tg Mures, Tg Mures, Romania, Drug Research Center, Balatonfured, Hungary. Objective. Based on the supposed multifactorial inheritance, we proposed to follow the joint effect of three SNPs in candidate genes of the metabolic syndrome. We have studied the risk of the disease diagnosed according to the IDF reccommendations in the presence of the FABP2-A54T, PPARG2-P12A and PC1-K121Q polymorphisms in the population from Tg. Mures. Material and methods. We carried out a case-control study on 144 patients and 73 healthy controls. Anthropometric measurements, biochemical assays were undertaken, fasting insulinemia was measured by ELISA, and insulin sensitivity was assessed by the QUICKI indices. Genetic analysis was done by PCR followed by restriction enzyme digestion with Hha I, BstU I and Ava II. Results. Regardless of their type, the increase of the number of predisposing alleles on the three studied loci associates with a significantly increased risk to develop the syndrome (chi2 for trend = 7.99, df = 1, p = 0.0047), and the risk was highest in the presence of the TT + PP/PA + QQ/KQ genotype combination (OR = 4.31, p= 0.015). Conclusion. Our results confirm the small but additive effect of certain predisposing gene polymorphisms as part of a polygenic system in the development of the common metabolic syndrome, though individual gene combinations can be presumed and other gene interactions like epistasis seem also plausible. P17.32 Polymorphic genetic markers are of significance in developing of cardiovascular complications of the metabolic syndrome A. N. Voitovich 1 , M. A. Bogdanova 1 , T. D. Glebovskaya 2 , B. I. Smirnov 3 , V. V. Isakov 4 , S. I. Yagashkina 4 , O. N. Semenova 4 , N. N. Burova 2 , O. A. Berkovich 5 , E. V. Shliakhto 5 , V. I. Larionova 1 ; 1 St. Petersburg State Pediatric Medical Academy, Saint-Petersburg, Russian Federation, 2 Federal heart, blood end endocrinology center after V.A. Almazov, Saint-Petersburg, Russian Federation, 3 St. Petersburg State Electrotechnical University, Saint-Petersburg, Russian Federation, 4 Research Center for People, who lived in Blockaded Leningrad, Saint-Petersburg, Russian Federation, 5 St. Petersburg Pavlov State Medical University, Saint-Petersburg, Russian Federation. The metabolic syndrome (MS) is a cluster of metabolic abnormalities often associated with development of various complications including cardiovascular diseases. Recently, many studies showed some polymorphisms in apolipoprotein genes might be associated with development of cardiovascular complications of MS. OBJECTIVE: to study the association of several polymorphisms in apo-genes APOA1 G-75A, APOA1 C83T, APOC3 Sst1, APO E epsilon, APOA5 T-1131C, and APOA5 S19W with MS complicated with acute coronary syndrome (MS/ACS). STUDY POPULATION: MS/ACS patients, among them 76 males and 61 females (average age 61.7±1.0), and the controls, among them 114 healthy males (average age 40.0±0.5) and 84 females (average age 85.9±0.5) without any cardiovascular disease. All of them were investigated clinically, biochemically and genetically. RESULTS: Among male MS/ACS patients, there was a lower rate of carries of APOE e4-allele compared to the controls (18% vs. 28%, OR=0.62, 90%CI 0.38-1.02, p=0.075). Also among them, there was a higher rate of carries of APOA5 19W- allele compared to the controls (18% vs. 3%, OR=6.75, 95%CI 2.01-22.70, p
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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
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Page 339 and 340: Molecular basis of Mendelian disord
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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
Page 417 and 418: Author Index Grasso, R.: P02.025 Gr
Page 419 and 420: Author Index Holder-Espinasse, M.:
Page 421 and 422: Author Index Jurkiewicz, E.: C14.5
Page 423 and 424: Author Index Kooper, A. J. A.: P05.
Page 425 and 426: Author Index Li, K. J.: P11.086 Li,
Page 427 and 428: Author Index Martinet, D.: P03.095
Page 429 and 430: Author Index Moorman, A. F. M.: P16
Page 431 and 432: Author Index P10.57, P10.82 Oguzkan
Page 433 and 434: Author Index P09.054, P09.085, P09.
Page 435 and 436: Author Index P16.01 Renieri, A.: P0
Page 437 and 438: Author Index Santorelli, F.: P08.55
Page 439 and 440: 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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