2009 Vienna - European Society of Human Genetics

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Statistical genetics, includes Mapping, linkage and association methods vs. ID+II= 2.897, 95% CI 1.409-5.955, p=0.003). Average aneurysm diameter was largest in patients with DD genotype (82.46 ± 3.3 mm) compared to ID and II genotypes, but the difference was not statistically significant (H=4.71, p=0.09). Conclusion: our results show significant association between ACE DD genotype and susceptibility to AAA. P08.09 APOc3 Gene -482 c>t Polymorphism and Plasma triglyceride Levels in a turkish Population E. Taskin1,2 , H. Bagci1,2 , K. Cengiz3,2 ; 1 2 Department of Medical Biology and Genetics, Samsun, Turkey, Ondokuz Mayis Univercity, School of Medicine, Samsun, Turkey, 3Department of Nephrology, Samsun, Turkey. Coronary artery disease (CAD) is the leading cause of death in the United States and in Europe. Elevated plasma concentrations of triglycerides is an independent risk factor for CAD. APOC3 is a member of apolipoprotein gene family. Several studies demonstrated that -482 C>T single nucleotide polymorphism within the insulin responsive element in the promoter of APOC3 gene is associated with elevated plasma triglyceride levels. We investigated the distribution of APOC3 gene -482 C>T polymorphism in 67 hypertriglyceridemic patients and 147 age and sex matched controls. Genomic DNA was extracted from whole blood by salting out method. The polymorphism was analyzed using polymerase chain reaction (PCR) - restriction fragment length polymorphism (RFLP) assay. Genotype and allele frequencies and their associations with CAD risk, demographic factors, and smoking status were investigated. The percentages of the CC, CT, and TT genotypes were 34.3%, 10.4%, 55% for the patients and 46%, 8.2%, 45.6% for the controls, respectively. There was no significant association between the APOC3 -482C>T polymorphism and plasma triglyceride levels in the studied population. (OR=1.39, %95 CI=0.89 - 2.18, P= 0.131). P08.10 Genome-wide association of pulse wave analysis phenotypes in two isolated populations C. S. Franklin 1 , R. A. Payne 1 , S. H. Wild 1 , O. Polasek 2 , I. Kolcic 2 , V. Vitart 3 , C. Hayward 3 , C. McEniery 4 , J. Cockcroft 5 , K. O’Shaughnessy 4 , I. Wilkinson 4 , A. F. Wright 3 , I. Rudan 6,7 , H. Campbell 1 , D. J. Webb 1 , J. F. Wilson 1 ; 1 University of Edinburgh, Edinburgh, United Kingdom, 2 University of Zagreb, Zagreb, Croatia, 3 MRC Human Genetics Unit, Edinburgh, United Kingdom, 4 University of Cambridge, Cambridge, United Kingdom, 5 University of Wales, Cardiff, United Kingdom, 6 University of Split, Split, Croatia, 7 University Hospital “Sestre Milosrdnice”, Zagreb, Croatia. Pulse wave analysis (PWA) using the SphygmoCor system is a noninvasive applanation tonometry-based method of recording the pulse pressure waveform in a peripheral artery. The corresponding central pressure waveform can be derived from the measured radial waveform. The shape of this wave contains information on cardiac contractility and the size, speed and shape of wave reflection, which are in turn determined by factors like arterial stiffness. A number of PWA parameters including the augmentation index are associated with classical cardiovascular risk factors and events. We have measured a range of PWA phenotypes in samples from two island isolates; the Orkney Isles in Scotland (540 subjects) and the Croatian island of Korcula (480 subjects). All samples were genotyped at 318,000 SNP markers using Illumina beadchips. Association tests were performed separately in the two populations using a genomic kinship method to correct for the close relationships among participants. Meta-analysis of these data identified seven separate genomic regions showing novel associations (up to P = 3 x 10^-8), with one or more of the PWA phenotypes, including central augmentation pressure and time delay from incident to reflected wave. Replication has been sought in 3000 independent samples from the Anglo-Cardiff Collaborative Trial (ACCT). Several genes and potential regulatory regions which have not previously been associated with haemodynamic traits have been identified here and therefore warrant further study. P08.11 Identification of genes regulated by disease associated SNPs in gene deserts U. Potočnik 1,2 , K. Repnik 1 , M. Dean 3 ; 1 Medical faculty, Maribor, Slovenia, 2 Faculty for chemistry and chemical engineering, Maribor, Slovenia, 3 NIH-National Cancer Institute, Frederick, MD, United States. Genome wide association studies in complex diseases such as asthma and inflammatory bowel diseases (IBD) revealed in many candidate chromosomal regions SNPs and haplotypes most significantly associated with disease are located in non-coding regions or even in “gene deserts” suggesting SNPs in non-coding regions play important role in complex diseases. We have developed approach for identification of functional SNPs in cis-elements associated with allele specific expression in disease candidate regions. In this approach we initially correlated our gene expression data we have obtained from more than 500 lymphoblastoid cell lines from CEPH families to public released International HapMap project genotype data preformed on the DNA isolated from the same CEPH cell lines. We have confirmed genotype-gene expression correlation resulting from lymphoblastoid CEPH cell lines in blood lymphocytes isolated from patients trios using quantitative transmission disequilibrium test (qTDT). In addition we confirmed genotype-gene expression correlations in patients tissue biopsies where available. The SNPs most significantly associated with altered gene expression were used for disease association study in patients and controls. We have applied our approach to Slovenian IBD and asthma cohorts each consisting of more than 400 patients and matching healthy controls and among others confirmed PTGER4 gene as best candidate gene in 5p13.1 IBD candidate region. P08.12 the LKB1-AmPK-tORc2 signaling pathway and its contribution with development of type 2 diabetes in Japanese M. Shahdinejad Langroudi 1 , B. Rahmati 1 , P. Keshavarz 1 , M. Itakura 2 ; 1 Guilan University of Medical Science, Rasht, Islamic Republic of Iran, 2 Institute for Genome Research, The University of Tokushima, Tokushima, Japan. The LKB1-AMPK-TORC2 signaling pathway controls glucose homeostasis in the liver, and mediates therapeutic effects on insulin sensitizing antidiabetic agents.We hypothesized that genetic polymorphisms of the STK11, PRKAA2 (encoding AMPK α 2 subunit) and CRTC2 (encoding TORC2) could influence the susceptibility to T2D. We screened exons, untranslated regions and exon-intron boundary of STK11 and CRTC2 and genotyped in 1787 Japanese subjects. Additionally, the previously described association between the PRKAA2 haplotype and T2D was tested for replication. According to single locus association test, an intronic SNP in the STK11 (rs741765; OR 1.33, 95% CI 1.05- 1.67, p = 0.017, under a recessive genetic model), and a non-synonymous SNP in the CRTC2 (6909C > T: Arg379Cys; OR 3.01, 95% CI 1.18-7.66, p = 0.016, under a dominant model) showed a nominal significant association with T2D. In PRKAA2, two non coding SNPs, rs1418442 (previously been reported to be associated with serum cholesterol in Caucasian females) and rs932447 were associated moderately with T2D (OR 0.62, 95% CI 0.40-0.96, p = 0.030, under a recessive model). Haplotype analysis showed that only in STK11, one haplotype containing the minor T allele of rs741765 was slightly associated with T2D (P=0.04). The association of PRKAA2 haplotype reported previously in Japanese was not replicated in our samples. Among the three genes investigated herein, gene-gene (SNP-SNP) interaction studies provided evidence for an interaction between STK11 and CRTC2 influencing susceptibility to T2D. In conclusion, we found a weak evidence that STK11, PRKAA2, or CRTC2 polymorphisms contribute to the susceptibility to T2D in Japanese. P08.13 On the value of family data in genome-wide association studies for quantitative traits A. Saint-Pierre, M. Martinez; Inserm, Toulouse, France. GWAS of quantitative traits are typically done using population-based samples of subjects that are, most often, ascertained irrespective of their trait values or of the trait distribution in their relatives. It is well known, however, that greater power can be achieved in genetic pop-
Statistical genetics, includes Mapping, linkage and association methods ulation-based studies by selecting subjects from the tails of the trait distribution. Family-based study designs have not been the design of choice mainly because of the reduced power of the orthogonal-based association tests. Association testing in family data can be performed under alternative methods, as the Measured Genotype test that has been shown to outperform orthogonal-based tests. Therefore, association designs based on family data can prove to be of more value than assumed, especially for replicating and/or following-up results from population-based association results. Here, our main aims are to evaluate the performance of association designs using either population-based data only or combining both population and family data in a multi-stage approach. A two-stages association study is designed. The first stage uses population data to identify the set of SNPs positively associated to the trait at a given nominal significance. These positive SNPs are tested for replication in a second stage that uses either population or family data. We developed a simulation study to estimate type I and type II error rates of these two association designs. The data were simulated under varying conditions according to (1) the criteria used to ascertain the (population or family) data; (2) the effect sizes of the functional variant; (3) trait heritability. P08.14 common variants of tAc3 and tAc4 tachykinin genes and susceptibility to asthma T. E. Klassert 1 , M. Pino-Yanes 2,3 , T. A. Almeida 1 , L. Candenas 4 , F. Pinto 4 , M. Hernández 1 , C. Flores 2,3 , B. Esquivel 5 , J. J. Sanchez 6 ; 1 Instituto Universitario de Enfermedades Tropicales de Canarias, La Laguna, Spain, 2 Unidad de Investigación, Hospital Universitario NS de Candelaria, Santa Cruz de Tenerife, Spain, 3 CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain, 4 Instituto de Investigaciones Químicas, CSIC, Sevilla, Spain, 5 Sección de Citogenética, Hospital Universitario de Canarias, La Laguna, Spain, 6 Instituto Nacional de Toxicología y Ciencias Forenses, La Laguna, Spain. Asthma is a complex disease resulting from both genetic and environmental factors. Its pathological features involve an intricate interplay between different cell types including those from lung and also inflammatory and immune cells. In humans, tachykinins and their receptors are expressed in many of these cells and have been shown to be involved in airway hyperresponsiveness, broncoconstriction, edema, and mucus secretion. The aim of this study was to investigate a possible association between eight single nucleotide polymorphisms (SNPs) of two tachykinin genes, TAC3 and TAC4, and asthma susceptibility. A case-control study was performed in the Canary Islands population (Spain), where asthma prevalence has been estimated to be much higher than in continental populations. The investigation was conducted on 102 patients, with clinically defined asthma, and on 100 healthy subjects. Genotyping was done by multiplex polymerase chain reaction and a subsequent single base extension assay (SNaPshot®). Nominal significance was observed for two SNPs, one in the TAC3 gene conferring asthma protection (Odds ratio [OR]: 0.46; 95% Confidence Interval [CI]: 0.22-0.97; p=0.038), and another one in TAC4 associated with an increased risk for asthma (OR: 1.94; 95% CI: 1.06- 3.54; p=0.03). Although this study is currently ongoing, these results suggest a possible role for common variants of the TAC3 and TAC4 genes in asthma susceptibility in the Canary Islands population. P08.15 meta analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease E. Rodríguez 1 , H. Baurecht 2 , E. Herberich 2 , S. Wagenpfeil 2 , S. J. Brown 3 , H. J. Cordell 4 , A. D. Irvine 5 , S. Weidinger 6 ; 1 Helmholtz Zentrum München and ZAUM-Center for Allergy and Environment, Technische Universitaet Muenchen, Munich, Germany, 2 Institute for Medical Statistics and Epidemiology, Technische Universitaet Muenchen, Munich, Germany, 3 Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom, 4 Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom, 5 Department of Paediatric Dermatology, Our Lady’s Children’s Hospital, Dublin, Ireland, 6 Department of Dermatology and Allergy Biederstein, Technische Universitaet Muenchen, Munich, Germany. The discovery of null mutations in the gene encoding the key epidermal protein filaggrin (FLG) as a major risk factor for eczema and related asthma represents a milestone towards the understanding of an important genetic mechanism in these complex diseases. Studies published to date demonstrate differences concerning study design and strength of associations and reported conflicting results on the impact of FLG in asthma. We conducted a meta-analysis of 24 studies on common FLG mutations and AE involving 6448 AE cases, 26787 controls and 1993 AE families as well as 17 studies involving 3138 cases, 17164 controls and 4 family studies including 1511 affected offspring on asthma. Odds ratios (OR) for case-control studies ranged from 1.69 to 11.56 with an overall OR of 3.39 (95%CI=2.73-4.23), while family studies showed more homogeneous results. FLG mutations are also significantly associated with asthma with an overall OR of 1.48 (95%CI=1.32-1.66). While strong effects for the compound phenotype “asthma + AE” with an OR of 3.29 (95%CI=2.84-3.82) were observed, there appears to be no significant association with asthma in the absence of AE. This meta-analysis summarizes the strong evidence for a high risk for AE conferred by FLG null mutations, and refines the risk profiles of FLG alleles suggesting an association with both more severe disease and a dermatologist diagnosis. The results clearly indicate that FLG null alleles are a robust risk factor in determining genetic predisposition to asthma, and suggest that FLG deficiency might help define the endophenotype of asthma linked with eczema. P08.16 Glucocorticoid receptor gene polymorphisms associated with bronchial asthma in children M. V. Zhdanova, P. B. Glazkov, G. A. Novik, V. I. Larionova; Saint-Petersburg Pediatric Medical Academy, Saint-Petersburg, Russian Federation. Objective: The authors hypothesized that glucocorticoid therapy efficacy might be associated with polymorphisms in the glucocorticoid receptor (GR) gene. We compared clinical course of asthma among children with different genotypes of BclI and Tth111I polymorphisms of the GR gene. In children with difficult asthma we investigated exon 2 of the GR gene by sequencing. Methods: Study group consisted of 485 children (age 2-17) with asthma; control group consisted of 151 healthy children. The BclI and Tth111I polymorphisms were detected by PCR-RFLP. We studied exon 2 by sequencing in group of 24 patients with difficult asthma. Results: We not found differences in allele and genotype frequencies of BclI variant in asthma patients and controls. Genotype TT of Tth111I polymorphism was rare in girls with asthma compared to boys with asthma and healthy girls. However, the clinical characteristics of patients (severity of exacerbation, tests for bronchial hyperreactivity, lung function data, IgE levels, dynamics of clinical symptoms, level of asthma control via inhaled GC) showed that children carrying BclI CC genotype and Tth111I CC genotype have more mild clinical presentations of asthma than G-allele or T-allele carries.We found that genotype CT of Tth111I polymorphism was more frequent in 24 children with difficult asthma compared to children with severe asthma. Among 24 children with difficult asthma 3 previously reported polymorphisms (198G>A, 200G>A, 1220A>G) were found in exon 2. Conclusion: GR gene polymorphisms linked with levels of asthma severity and inhaled glucocorticoids therapy efficiency in children with asthma. P08.17 TGF-β1and TGF-β3 are upregulated in lung of toxic inhaled patients, and improve effeocytosis and survival time A. Arzan Zarin 1 , M. Behmanesh 1 , M. Tavallaei 2 , M. Ghanei 3 ; 1 Department of Genetics, School of Sciences, Tarbiat Modares University, Tehran, Islamic Republic of Iran, 2 Genetic Research Center, Baqiyatallah Medical Sciences University, Tehran, Islamic Republic of Iran, 3 Research Center for Chemical Injuries, Baqiyatallah Medical Sciences University, Tehran, Islamic Republic of Iran. During Iraq imposed war on Iran, thousands of Iranians were exposed to toxic inhalants, and survived people suffer from respiratory disease, Bronchiolitis Obliterans (BO). Most recently it has been indicated that
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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
Page 171 and 172: Cancer genetics P06.005 tiling reso
Page 173 and 174: Cancer genetics tient group in whic
Page 175 and 176: Cancer genetics chronic inflammatio
Page 177 and 178: Cancer genetics licular thyroid can
Page 179 and 180: Cancer genetics also studied. In 31
Page 181 and 182: Cancer genetics tile polyposis. We
Page 183 and 184: Cancer genetics Upon recombinant ex
Page 185 and 186: Cancer genetics variant allele was
Page 187 and 188: Cancer genetics from patients with
Page 189 and 190: Cancer genetics tion (PAX5 and GATA
Page 191 and 192: Cancer genetics scribed underexpres
Page 193 and 194: Cancer genetics of the ZIC gene fam
Page 195 and 196: Cancer genetics Materials and metho
Page 197 and 198: Cancer genetics the past and it is
Page 199 and 200: Cancer genetics P06.130 spectrum an
Page 201 and 202: Cancer genetics P06.139 the role of
Page 203 and 204: Cancer genetics and MSH2 germline m
Page 205 and 206: Cancer genetics P06.155 New roles f
Page 207 and 208: Cancer genetics screening was perfo
Page 209 and 210: Cancer genetics val (DFI) than pati
Page 211 and 212: Cancer genetics is hTERC gene ampli
Page 213 and 214: Cancer genetics on chromosome regio
Page 215 and 216: Cancer genetics preferentially dupl
Page 217 and 218: Cancer cytogenetics mutations in co
Page 219 and 220: Cancer cytogenetics P07.08 molecula
Page 221: Statistical genetics, includes Mapp
Page 225 and 226: Statistical genetics, includes Mapp
Page 235 and 236: Complex traits and polygenic disord
Page 267 and 268: Evolutionary and population genetic
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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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Metabolic disorders P12.167 Pattern
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Metabolic disorders PKU. BH4 challe
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Metabolic disorders catepe Universi
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Metabolic disorders respectively. G
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Metabolic disorders enzymaticaly co
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Metabolic disorders Normal Affected
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Therapy for genetic disorders in th
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Therapy for genetic disorders P14.0
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Therapy for genetic disorders of me
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Laboratory and quality management P
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Laboratory and quality management T
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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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