2009 Vienna - European Society of Human Genetics

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Evolutionary and population genetics, and Genetic epidemiology genotyping was determined by PCR-RFLP methodology. The genotype distribution for -308 region was observed: 1.3% in AA, 35.3% in AG and 63.4% in GG. The genotype distribution for -238 region was observed in our population: 0% in AA, 4.7% in AG and 95.3% in GG. Also the genotype distribution for -857 region were observed in our population: 12.7% in TT, 30.7% in TC and 56.6% in CC. We compared our results with the literature data of healthy populations in 13 different countries. No deviation for -308 and -238 regions from Hardy-Weinberg Equilibrium (HWE) were observed in our population (p> 0.05) whereas deviation for -857 region from HWE was observed (p< 0.05). These results show that these deviations occur due to the fact that our region is the transition region of migrations. This is the first study in Turkish healthy population for the TNFα promoter (-308,-238 and -857) polymorphisms. P10.83 the USH A c.2299delG mutation: dating its common origin in southern Europe population E. Aller 1,2 , L. Larrieu 3 , D. Baux 3 , T. Jaijo 1,2 , C. Espinos 4,2 , F. González 5 , M. Claustres 3,6 , A. F. Roux 3 , J. M. Millan 1,2 ; 1 Hospital Universitario La Fe, Valencia, Spain, 2 CIBER de Enfermedades Raras (CIBERER), Valencia, Spain, 3 Centre Hospitalier Universitaire (CHU) Montpellier, Laboratoire de Génétique Moléculaire, Montpellier, France, 4 Unidad de Genética y Medicina Molecular. Instituto de Biomedicina de Valencia, CSIC, Valencia, Spain, 5 Institut Cavanilles de Biodiversitat i Biologia Evolutiva (ICBiBE), Valencia, Spain, 6 Inserm, U827, Montpellier, France. Usher syndrome type II is the most common form of Usher syndrome. Although 3 genes are known as disease causing, USH2A is the major involved gene. It encodes two isoforms of the protein usherin. This protein is part of an interactome that plays an essential role in the development and the function of the stereocilia of inner ear hair cells. In the photoreceptor, usherin is located at the periciliary region between extern and inner segments. This gene contains 72 exons over a region of 800 kb. Although numerous mutations have been described, the c.2299delG mutation is the most prevalent in several populations. Its ancestral origin was previously suggested with the identification of a core haplotype restricted to 250 kb in the 5´ region of the gene. Because we extended the haplotype analysis over the 800 kb region with a total of 14 intragenic SNPs, we could define 10 different c.2299delG haplotypes showing a high variability but with the conservation of the previous described core haplotype. An exhaustive c.2299delG/control haplotypes study suggests that the major source of haplotype variability in USH2A gene is recombination. Furthermore, we have found twice amount of recombination hotspots in the 500 kb 3´ region of the gene, explaining the higher variability observed in this region comparing to the first 250 kb. Our data confirm the common ancestral origin of the c.2299delG mutation and suggest that it arose 5,500-6,000 years ago. P10.84 A complex selection signature at the human AVPR1B gene R. Cagliani 1 , M. Fumagalli 1,2 , U. Pozzoli 1 , S. Riva 1 , M. Cereda 1 , L. Pattini 2 , G. P. Comi 3 , N. Bresolin 1,3 , M. Sironi 1 ; 1 Scientific Institute IRCCS E. Medea, Bosisio Parini, Italy, 2 Bioengineering Department, Politecnico di Milano, Milan, Italy, 3 Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena Foundation, Milan, Italy. The vasopressin receptor type 1b (AVPR1B) is mainly expressed by pituitary corticotropes and it mediates the stimulatory effects of AVP on ACTH release; common AVPR1B haplotypes have been involved in mood and anxiety disorders in humans, while rodents lacking a functional receptor gene display behavioral defects and altered stress responses. Here we have analyzed the two exons of the gene and the data we present suggest that AVPR1B has been subjected to natural selection in humans. In particular, analysis of exon 2 strongly suggests the action of balancing selection in African populations and Europeans: the region displays high nucleotide diversity, an excess of intermediatefrequency alleles, a higher level of within-species diversity compared to interspecific divergence and a genealogy with common haplotypes separated by deep branches. This relatively unambiguous situation coexists with unusual features across exon 1, raising the possibility that a nonsynonymous variant (Gly191Arg) in this region has been subjected to directional selection. Although the underlying selective pressure(s) remains to be identified, we consider this to be among the first documented examples of a gene involved in mood disorders and subjected to natural selection in humans; this observation might add support to the long-debated idea that depression/low mood might have played an adaptive role during human evolution. P10.85 Estimating the heritability of vitamin b12 levels: a study of adult female twins I. Cotlarciuc, T. Andrew, G. Surdulescu, T. Spector, K. Ahmadi; Dept of twin research and genetic epidemiology, King’s College London, United Kingdom. Background: Vitamin B12 (cobalamin) is an essential cofactor involved in one carbon metabolism (remethylation of homocysteine to methionine) and in the metabolism of branched chain amino acids. Currently the extent of the genetic and environmental influences on vitamin B12 levels has not yet been determined. Our aim was to determine the first heritability estimate for vitamin B12 levels in an adult female twin population. Methods: We estimated the heritability of vitamin B12 levels in 1063 female twin pairs (262 monozygotic twin pairs and 801 dizygotic twin pairs), aged 18 to 80 years from the TwinsUK Adult Twin Registry. Structural genetic modeling was used to determine the influence of genetic and environmental factors on vitamin B12 variation. Results: Genetic factors showed to account for 52% (95%CI, 45-58%) of vitamin B12 variation. The variance in vitamin B12 levels was explained by additive genetic and non-shared environmental factors, with the additive genetic variance estimated to 52% (95%CI, 45-58%) and the non-shared environmental variance to 48% (95%CI, 41-54%). Conclusions: Vitamin B12 levels were shown to be highly heritable and here we report the first heritability estimation for vitamin B12 levels. The high heritability obtained for vitamin B12 levels is suggesting that further genetic analysis have to be considered in order to identify genetic variants responsible for vitamin B12 variation. P10.86 Comparison of VKORC1 haplotype profile and CYP2C9 polymorphisms as determinants of coumarin dose in Hungarian and Roma population samples. C. Sipeky 1 , E. Safrany 1 , V. Csongei 1 , L. Jaromi 1 , P. Kisfali 1 , A. Maasz 1 , N. Polgar 1 , J. Bene 1 , I. Takacs 2 , M. Szabo 3 , B. Melegh 1 ; 1 Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary, 2 2nd Department of Institute of Internal Medicine and Haematology, Semmelweis Teaching Hospital, Miskolc, Hungary, 3 Koch Robert Hospital, Edelény, Hungary. Anticoagulant action of coumarins is mainly moderated by the VKORC1 and CYP2C9 genes. By means of haplotype tagging SNPs (G-1639A, G9041A, C6009T) we characterized Hungarian (n=510) and Roma (n=451) populations for the VKORC1*1, *2, *3, *4 haplotypes, and for the CYP2C9*2, CYP2C9*3 allelic variants. The samples were analyzed by PCR-RFLP assay and direct sequencing. In Hungarians the VKORC1*1, *2, *3, *4 haplotypes were 3, 39, 37, 21%, by contrast, in the Roma populations were 5, 30, 46,19%, respectively. Comparing the genotypes of Roma and Hungarian populations difference was found in the *2*2 (6.87 vs. 13.5%), *2*4 (13.9 vs. 19.2%), 3*3 (21.9 vs. 13.7%) VKORC1 genotypes. The frequencies of CYP2C9*1, *2, *3 alleles in the Hungarian population were 0.787, 0.125, 0.088 and in Roma 0.727, 0.118, 0.155, respectively. The distribution of *1/*1, *1/*2, *1/*3, *2/*2, *2/*3, *3/*3 genotypes in Hungarians were 0.620, 0.195, 0.139, 0.021, 0.015, 0.011, while in Roma were 0.533, 0.168, 0.219, 0.011, 0.047, 0.022, respectively. Significant difference was found between Hungarian and Roma population considering the CYP2C9*3 frequency and *1/*1, *1/*3, *2/*3 genotypes (p
Genomics, Genomic technology and Epigenetics P10.87 Phylogeography of human Y chromosome haplogroup R1b1b2 (R-m269) in Europe F. Cruciani1 , C. Antonelli1 , B. Trombetta1 , D. Sellitto2 , P. Moral3 , R. Pascone1 , R. Scozzari1 ; 1 2 3 Sapienza University of Rome, Rome, Italy, CNR, Rome, Italy, University of Barcelona, Barcelona, Spain. The human Y chromosome haplogroup R1b1b2 (R-M269) displays an extremely wide geographic distribution within Europe, with a decreasing frequency cline from Iberia (frequencies up to 90%) towards the Balkans (usually less than 10%). Previous studies have proposed that the observed R1b1b2 frequency cline is due to a population expansion from an Iberian Ice-age refugium after the LGM (Malaspina et al. 1998; Semino et al. 2000). In this study, we explored the phylogeography of the human Y chromosome haplogroup R1b1b2 by analyzing more than 2,000 males from Europe. The haplogroup-defining marker M269 (Cruciani et al. 2002), and two additional internal markers (U106 and U152, Sims et al 2007) which identify internal branches (R1b1b2g and R1b1b2h) were analyzed. The paragroup R1b1b2*(xR1b1b2g, R1b1b2h) and the haplogroups R1b1b2g and R1b1b2h showed quite different frequency distribution patterns within Europe, with frequency peaks in the Iberian Peninsula, northern Europe and northern Italy/France, respectively. The overall frequency pattern of R1b1b2 haplogroup is suggestive of multiple events of migration and expansion within Europe rather than a single and uniform spread of people from an Iberian Ice-age refugium. References: Malaspina et al. (1998) Am J Hum Genet 63:847-860 Semino et al. (2000) Science 290:1155-1159 Cruciani et al. (2002) Am J Hum Genet 70:1197-1214 Sims et al. (2007) Hum Mutat 28:97 P10.88 Diversity of Y-stRs in the representative sample of the local human population of canton sarajevo residents M. Cenanovic1 , L. Kovacevic1 , N. Pojskic1 , J. Avdic1 , D. Marjanovic1,2 ; 1Institute for Genetic Engineering and Biotechnology, Sarajevo, Bosnia and Herzegovina, 2Genos d.o.o., Zagreb, Croatia. In one of our previous population studies of B&H human population, we used twelve Y-chromosomal short tandem repeats loci incorporated in the PowerPlex ® Y System to generate Bosnian Y-STR referent database. Wishing to test these results in order to obtain specific results in various DNA analyses for the local human population of Canton Sarajevo residents, we have decided to test DNA samples collected from 100 unrelated healthy male individuals from Sarajevo at twelve Y-linked short tandem repeats loci. Qiagen DnaeasyTM Tissue Kit was used for DNA extraction from buccal swabs and PowerPlex ® Y System (Promega Corp., Madison, WI) has been used to simultaneously amplify by PCR 12 Y-STR loci. The STR loci that were used are: DYS19, DYS385a, DYS385b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439. The total volume of PCR reaction was 5μl. PCR amplifications were carried out in PE GeneAmp PCR System Thermal Cycler. Electrophoresis of the amplification products was preformed on an ABI PRISM 310 genetic analyzer (ABI, Foster City, CA) according to the manufacturer’s recommendations. The raw data were compiled and analyzed using the accessory software: ABI PRISM ® Data Collection Software and Genemapper ® v3.2. In addition, we compared obtained Sarajevo data with the data previously obtained from the entire Bosnian and Herzegovinian population, as well with geographically closer European populations. The results of this study will be used as guidelines in additional improving of investigation of genetic relationship between recent local B&H populations, both isolated and opened, initiated in our previous researches. P10.89 the genetic position of Western Brittany (Finistère, France) in the celtic Y chromosome landscape K. Rouault 1,2 , C. Branco 3,4 , V. Scotet 1 , L. Mota-Vieira 3,4 , C. Ferec 1,2 ; 1 INSERM U 613, Brest, France, 2 CHU Brest, Hop Morvan, Laboratoire de génétique moléculaire, Brest, France, 3 Molecular Genetics and Pathology Unit, Hospital of Divino Espirito Santo of Ponta Delgada, EPE, São Miguel Island, Azores, Portugal, 4 Instituto Gulbenkian de Ciência, Oeiras, Portugal. Brittany, a large peninsula located at the western part of France, is of particular interest because of its historical settlement and its relative geographic and cultural isolation. Brittany was invaded by waves of migration from Britain and Ireland between the 4th and 7th centuries and, therefore, belongs to the Brythonic branch of the Insular Celtic language. We have focused our study on the department of Finistère, the most western territorial unit of Brittany, and its administrative and historical areas. To explore the diversity of the Y-chromosome, we analyzed a total of 348 unrelated males using a combination of 23 biallelic markers and 12 microsatellite loci. The molecular analysis revealed that 82.2% of the Y chromosomes fell into haplogroup R1b, placing Finistère within the Western European landscape. Interestingly, at a microgeographical level, differences were detected by the haplogroup R1a* being confined to the south of the department, while haplogroups E3b, F, G, J2, K and R1a1 were found in the north. Nevertheless, geographical distribution of haplogroups and haplotypes suggested territorial homogeneity inside Finistère. Most of the Y-chromosomal gene pool in Finistère is shared with European, especially British, populations, thus corroborating the historical reports of ancient migrations to Brittany. Finally, the results are consistent with those obtained from classic genetic markers and support the Celtic paternal heritage of the Finistère population. P10.90 the N1b (N2) Y-chromosome haplogroup structure in Khanty gene pool O. Medvedeva1 , V. Kharkov2 , V. Stepanov2 ; 1 2 Tomsk State University, Tomsk, Russian Federation, Institute for Medical Genetics, Tomsk, Russian Federation. Haplogroup N1b (N2) is one of the major Y-chromosome variant in South Siberia and North Asian Finno-Ugric population. In present study a total sample of 112 males from two villages of Khanty-Mansi Autonomous Area (Kazym and Russkinskie) of Siberia was typed with 52 Y-chromosomal SNP markers. Five haplogroups (N1b (N2), N1c1 (N3à), Q*, R1a1 and R1b1b2 (R1b3)) were found in the Khanty gene pool. The maximal frequency has N1b (N2) haplogroup: 67% in Kazym population and 41% in Russkinskie population. An analysis of molecular variance (AMOVA) based on Y-chromosomal haplogroups showed that the variation observed between the two populations is 20.6%, indicated the high genetic subdivision of Khanty gene pool. The STR genetic diversity was H=0.49 in Kazym population and H=0.68 in Russkinskie population. To reconstruct the structure of Y-chromosome haplogroup N1b (N2) in Khanty we have analyzed the diversity of seventeen Y-chromosomal microsatellite (STR) loci. Median network analysis of STR data demonstrates that haplogroup N1b (N2) is represented by two subclusters, showing recent expansion times. It is also shown that haplogroup N1b (N2) is characterized by high frequency of founder haplotype, which includes 40% of all explored Y-chromosomes. The N1b founder haplotype in Khanty is the same as the ancestral haplotype for the whole linage; and Khanty represents the maximum of the frequency suggesting the North Siberian origin of N1b. P11. Genomics, Genomic technology and Epigenetics P11.001 simultaneous mutation and cNV detection by multiplex PcR based Gs FLX sequencing. D. Goossens1,2 , L. Moens1,2 , A. Lenaerts1,2 , W. Glassee1,2 , P. De Rijk1,2 , J. Del- Favero1,2 ; 1Applied Molecular Genomics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium, 2University of Antwerp, Antwerp, Belgium. We evaluated multiplex PCR amplification as a front-end for highthroughput sequencing to widen the applicability of massive parallel sequencers for the detailed analysis of complex genomes. Using multiplex PCR reactions, we sequenced the complete coding regions of 7 genes implicated in peripheral neuropathies in 40 individuals on a Genome Sequencer FLX. The resulting dataset showed highly specific and uniform amplification. Comparison of the 454 data with the dataset generated by Sanger sequencing confirmed the detection of all
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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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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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