2009 Vienna - European Society of Human Genetics

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Evolutionary and population genetics, and Genetic epidemiology Acknowledgement: The study was supported by Research Grant Council (RGC), Hong Kong SAR government. P10.46 interleukin-23 receptor gene polymorphisms in Hungarian patients with psoriasis E. Sáfrány 1 , M. Széll 2 , V. Csöngei 1 , L. Járomi 1 , A. Maász 1 , C. Sipeky 1 , B. Melegh 1 ; 1 Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary, 2 Department of Rheumatology and Allergology, University of Szeged, Szeged, Hungary. Background: Psoriasis is a chronic inflammatory disease that affects the skin and joints. Its prevalence rates vary from 0-5% to 4-6% between countries and races, affecting 2-3% of whites of European descent. Recently, associations were found between several autoimmune diseases including psoriasis and variants of interleukin-23 receptor (IL23R) gene. In our current work we analysed the association of nine polymorphisms of IL23R with psoriasis in Hungarian samples. Methods: Groups of patients with psoriasis (n=214) and unrelated, clinically healthy control subjects (n=192) were genotyped using PCR- RFLP methods. Results: We observed a significant increase in the carriage of the minor allele of rs11805303 in the psoriasis group compared to controls conferring a 1.55-fold risk for the development of psoriasis (p=0.029; OR=1.55; 95% CI: 1.05-2.29). Similarly, in psoriasis patients the homozygous carrying of the minor allele of rs2201841 or rs10889677 conferred a more than 2-, and 3-fold increase for the development of psoriasis, respectively (for rs2201841: p=0.024; OR=2.41; 95% CI: 1.12-5.15; for rs10889677: p=0.008; OR=3.04; 95% CI: 1.34-6.92). Conclusions: We confirmed the associations of IL23R polymorphisms with psoriasis in a Hungarian population, and were first to demonstrate the effect of the rs11805303 intronic SNP on the disease. P10.47 the incidence of inborn Erros of metabolism (iEm) in Estern Province of saudi Arabia H. Moammar1 , G. Cheriyan2 , N. Al-Sannaa2 ; 1 2 King Fahed University Hospital, Khobar, Saudi Arabia, Dhahran Health Center, Dhahran, Saudi Arabia. Objective: To determine the number of children born with Inborn Errors of Metabolism (IEM) from 1983-2008 within the Saudi Aramco Medical Services Organization (SAMSO) medical centers. This population is a relatively stable well defined population of the Eastern province of Saudi Arabia where a thorough follow up system is provided to all the patients. Methods: The records of all patients, born from January 1983-December 2008 within SAMSO facility and diagnosed with IEM. Results: Over the last 25 years, 165,530 infants were born and followed up at SAMSO. Among these infants, 248 were diagnosed with different types of IEM. The over all estimated incidence was 150 cases per 100,000 live births. 54 % of these were labeled as small molecules disorders such as aminoacidopathy, organic acidopathy, urea cycle disorders and fatty acids oxidation disorders. Organic acidopathy was the most commonly diagnosed small molecule disorder (29/100,000). Lysosomal Storage Diseases (LSD) was diagnosed in 31.5 % of children. 43 % of these were mucopolysaccharidosis (MPS) and the most common type was MPS VI. The incidence per 100,000 live births for each group was estimated. Conclusion: Our data provides a good estimate of IEM incidence in the population studied. Consanguinity plays a major role in the high incidence of single gene autosomal recessive disorders among this population. However, we believe this data still underestimated the true incidence. Therefore, regional newborn screening program will help provide the best estimation of the incidence of IEM in this population. P10.48 is there a need for functionally-enriched tagsNPs sets in candidate gene case-control association studies? An IRAK gene re-sequencing data exploration M. Pino-Yanes 1,2 , T. Klassert 3 , L. Perez-Mendez 1,2 , A. Corrales 1,2 , M. Hernandez 3 , J. Villar 1,4 , C. Flores 1,2 ; 1 CIBER de Enfermedades Respiratorias, Spain, 2 Research Unit, Hospital Universitario NS de Candelaria, Spain, 3 Department of Genetics, Universidad de La Laguna, Spain, 4 MODERN, Research Unit, Hospital Universitario Dr. Negrin, Spain. Interleukin-1 receptor-associated kinase 3 gene (IRAK3) is a candidate susceptibility gene for complex disease processes such as asthma and sepsis. Before validating these associations in the Spanish population, here we used re-sequencing data of the gene from this population to select different sets of tagging SNPs (tagSNPs), one including potentially functional variants (set1) and a second set unselected for their functionality (set2), and compared their accuracy in predicting untyped variants. Additionally, we explored how well a set of tagSNPs chosen from the European HapMap samples data (set3) performed in the Spanish population. These three sets were used to estimate minor allele frequencies (MAFs) of untyped variants using TUNA software. A high correlation between observed and estimated MAFs was found for all three sets (R 2 >0.95). Differences between observed and estimated MAFs were similar for set1 and set2 (~7%) and were much higher for set3 (34%), being reduced by two-fold (1.7%, 2.7% and 17%, respectively) for common variants (MAF≥10%). On the basis of these results, we propose that only common (MAF≥10%) untyped variants of this gene should be considered for association studies, especially when tagSNPs are selected from a reference HapMap population. Although functionally-enriched tagSNPs sets might be a straightforward way of exploring the association of a candidate gene with disease, their use increase genotyping costs without improving the accuracy in predicting untyped variants or the coverage of the gene. Supported by grants from the Spanish Ministry of Science and Innovation SAF2004-06833, PI081383 and EMER07/001. P10.49 Association of iL-10 promoter genetic polymorphisms with the risk of Kawasaki Disease and outcome of coronary artery lesions L. Ger 1,2 , T. Lai 2 , K. Hsieh 3 , Y. Hwang 4 , K. Weng 3 , S. Huang 1 , Y. Chiao 2 , M. Lin 5 ; 1 Department of Medical Education and Research, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan, 2 Institute of Biomedical Sciences, National SunYat-Sen University, Kaohsiung, Taiwan, 3 Department of Paediatric Cardiology, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan, 4 Department of Cardiology, Fon-Lin Veterans Hospital, Hua-Lan, Taiwan, 5 Institute of Public Health, National Yang-Ming University, Taipei, Taiwan. Kawasaki disease (KD) is the most common cause of paediatric acquired heart disease. Recent studies have indicated that the acute KD patients were with 3-33 fold higher levels of interleukin-10 (IL-10) in plasma. Therefore, a family-based association study of 101 caseparents trios and a matched case-control study of 76 KD cases with coronary artery lesions (CALs) and 76 KD controls without CALs were carried out to evaluate the association of SNPs in IL-10 promoter (- 1082, -819, and -592) with the risk of KD and CALs. Based on the TDT results, there were significant differences in the transmission of IL-10-819 and -592 SNPs (p=0.005 and 0.012, respectively). In addition, the TC and CC genotypes of IL-10-819T>C were associated with the increased risk of KD (AOR, 1.33; 95%CI, 0.71-2.50 and AOR, 3.25; 95%CI, 1.15-9.22, respectively) but decreased risk of CALs (AOR, 0.93; 95%CI, 0.47-1.81 and AOR, 0.074; 95%CI, 0.01-0.62, respectively), as compared to TT genotype. The AC and CC genotypes of IL-10-592A>C were with borderline significance of increased risk of KD but decreased risk of CALs (AOR, 0.90; 95%CI, 0.46-1.75 and AOR, 0.03; 95%CI, 0.03-0.87, respectively), as compared to AA genotype. Furthermore, as compared with TA/TA diplotype (defined by -819T>C and -592A>C), CC/CC diplotype of IL10 was associated with the increased risk of KD (AOR, 3.25; 95%CI, 1.15-9.22) but with the decreased risk of CALs (AOR, 0.18; 95%CI, 0.04-0.72). In conclusion, IL10-819 and -592 SNPs played important but contrary roles in the susceptibility of KD and CALs outcome. P10.50 Kinship and fertility in a fast-growing population M. Tremblay, M. Jomphe, B. Casgrain, È. Lavoie, M. Bouchard, H. Vézina; Université du Québec à Chicoutimi, Chicoutimi, QC, Canada. The relation between kinship and fertility has been investigated in many populations, with mixed results regarding the advantage or disadvantage of consanguineous unions on reproductive success. In most cases though, measures of kinship were limited to close links due to lack of genealogical data. In this study we investigated a to-
Evolutionary and population genetics, and Genetic epidemiology tal of 24728 couples who married between 1840 and 1944 in the Saguenay-Lac-St-Jean (SLSJ) region of Quebec (Canada). Genealogical and fertility data were obtained from the BALSAC population register. Most genealogical branches go back to the early 17 th century, with an average depth of nearly 10 generations. All genealogical links between spouses of each couple were measured. Kinship coefficients were computed by cumulating kinship links at each generation level, up to the tenth generation. Fertility measures include total number of children, married children and grandchildren for each couple. For most of the period, fertility levels remained high in this population. On average, SLSJ couples had 7 children, 4 married children and 21 grandchildren. Due to high levels of genealogical depth and completeness, at least one kinship link was found for nearly all couples (94%). At the tenth generation, the average kinship coefficient reaches a value of 0.0076 which is almost 5 times higher than the average value for close kinship (< 5 generations). Couples who share at least one ancestor before the seventh generation have on average 7.4 children, compared to 6.9 children for couples with no kinship link. P10.51 studying human genome variation in malaria-endemic populations K. Kivinen, on behalf of The Malaria Genomic Epidemiology Network; Wellcome Trust Sanger Institute, Cambridge, United Kingdom. Malaria is an enormous burden to global health care and represents the strongest known evolutionary pressure on human genome. The Malaria Genomic Epidemiology Network Consortial Project 3 (Malaria- GEN CP3) assesses genetic variability in malaria-associated genomic regions within and across malaria-endemic populations by re-sequencing. Regions are prioritised based on their significance in genomewide association (GWA) studies and by their perceived relevance to the medical research community. Each participating study site aims to collect DNA from at least 90 individuals. Our repository currently stores DNA from ~2000 individuals from 12 African and South-East Asian countries. We have completed a pilot study spanning four genomic regions in 288 individuals from six populations. The regions contain alpha-globins (90kbp, chr16), beta-globin (110kbp, chr11), SLC4A1 (30kbp, chr17) and G6PD (20kbp, chrX). Automated variation detection pipeline has identified 19,000 putative SNPs, of which ~2300 have been verified manually. More than 50% of verified SNPs appear to be novel. Manual verification of oppositely fixed positions and putative insertion-deletion polymorphisms is ongoing. Current commercially available genotyping platforms are too sparse for powerful GWA studies in malaria-endemic populations. In addition, markers used to successfully fine-map one population may fail to detect association in another population due to local variations in haplotype structure and low level of linkage disequilibrium (LD). Our project will help to identify tagging markers for fine-mapping studies and provide a rich source of information regarding genome structure in African and South-East Asian countries. P10.52 multidrug resistance in iranian epileptic patients is not associated with g2677t/a polymorphism in the abcb1(mdr1)gene F. Kamgarpour 1,2 , A. Arab 1 , K. Gharagozlie 3 , M. Karimipour 1 , M. Sayyah 1 ; 1 Institut Pasteur of Iran, Tehran, Islamic Republic of Iran, 2 Khatam University, Tehran, Islamic Republic of Iran, 3 Shaheed Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran. Purposes: P-glycoprotein 170 encoded by the multidrug resistance 1 (MDR-1) gene, exports various antiepileptic drugs out of the CNS, which leads to multidrug resistance. The relationship between single nucleotide polymorphisms (SNPs) in the MDR1 gene and drug resistance in Iranians with epilepsy was evaluated in this study. Methods: The SNP at nucleotide position G2677A/T in exon 21 of MDR1 gene was genotyped by PCR-RFLP and ARMS-PCR in 300 Iranian Individuals. Subjects were classified according to whether they had drug-resistant (n=100) or drug-responsive epilepsy (n=100) or healthy control (n=100). Results: The frequencies of genotype and phenotype were compared between three groups. The results showed that the frequencies of genotype (G &A&T) and phenotype were not statistically significant among the groups. Our findings failed to prove an association between G2677A/T polymorphism in ABCB1 gene and drug resistance In Iranian epileptic patients P10.53 Aetiology of mental retardation in malta using clinical, cytogenetic, array cGH and molecular diagnostic techniques E. Said1,2 , A. Cuschieri1 , S. Suleiman1 , G. Neri3 ; 1Department of Anatomy & Cell Biology, University of Malta, Msida, Malta, 2 3 Mater Dei Hospital, Malta, Institute of Medical Genetics, Universita Cattolica,, Rome, Italy. Introduction: Genetic aetiology of mental retardation is complex and includes chromosomal abnormalities, monogenic or polygenic conditions, microdeletion syndromes and epigenetic disorders. Methods: A total of 380 individuals were studied using a diagnostic protocol based on dysmorphology and clinical assessment. Investigations included a routine karyotype, testing for cryptic chromosomal rearrangements using FISH and array CGH and DNA testing for FMR1, MECP2 and other genes as indicated. Results: A specific cause for the mental handicap was identified in 243 individuals (64%). These included a chromosomal abnormality in 86 (22%), fragile X syndrome in 7 (1.8%), Rett syndrome in 9 girls (2.4%), microdeletion syndrome in 4 (1%), recognizable syndromes in 43 (11%), neurological disorders in 25 (6.6%), metabolic conditions in 3 (0.8%), an environmental cause in 26 (6.8%) and autism spectrum disorder in 21 (5.5%). Subtelomeric screening in 73 families identified a microdeletion of 1pter and a t(7p:9p). Array CGH in 15 individuals with normal subtelomeric screens identified a 2MB duplication of 11q25, and a 6MB deletion of 22q12. Conclusion: While clinical diagnosis and conventional techniques form the mainstay of investigation of individuals with mental retardation, molecular cytogenetics and array CGH proved important diagnostic tools increasing the diagnostic yield by 2%. P10.54 Frequency of conserved extended haplotypes of the mHc region in Hungarian families A. Szilágyi1 , Z. Bánlaki1 , E. Pozsonyi2 , A. Hossó2 , K. Rajczy2 , G. Füst1 ; 1 2 3rd Department of Internal Medicine, Budapest, Hungary, Department of Immunogentics, National Blood Transfusion Service, Budapest, Hungary. Conserved extended haplotypes (CEH) or ancestral haplotypes (AH) are characteristic features of the major histocompatibility complex (MHC) region of the band 6p.21.3 on the short arm of chromosome 6. Although many studies performed on reference cell lines of homozygous individuals were reported recently, family studies with the updated CEHs suitable to establish their population frequencies are scarce. Therefore we performed such a study in 52 families in Hungary. Results obtained in 49 Caucasian and 3 Gipsy families were separately evaluated. Besides HLA-A, -B and -Cw as well as HLA-DR1/DQ1 alleles, copy number polymorphism of the C4A and C4B genes and several SNPs encoded in the central (class III) MHC region (RAGE -429T>C, Factor B S/F, HSP70-2 1267A>G, TNF -308G>A and LTA 252A>G) were determined. By analyzing 188 Caucasian haplotypes in Hungary we found 12 previously reported haplotypes in 53 copies. As expected, the most thoroughly studied haplotype AH8.1 or [B8, SC01, DR3] occurred most frequently (5.85%). In addition, 13 new, earlier not reported haplotypes in 32 copies were found in a frequency of at least 1% among the Hungarian chromosomes. Interestingly, a part of the DRB1-DQB1 blocks of these novel haplotypes were of Central-Asian type, in accordance with the origin of the Hungarians. These findings indicate that conserved extended haplotypes are more frequent in the Caucasian population than it is expected therefore their detailed analysis would be required for disease-association studies of this region. P10.55 Involvement of the modifier gene of a human Mendelian disorder in a negative selection process I. Jéru 1 , H. Hayrapetyan 2 , P. Duquesnoy 1 , E. Cochet 3 , J. Serre 4 , J. Feingold 1 , G. Grateau 5 , M. Jeanpierre 6 , T. Sarkisian 2 , S. Amselem 1 ; 1 INSERM U.933, Paris, France, 2 National Academy of Sciences, Yerevan, Armenia, 3 Hôpital Armand-Trousseau, Paris, France, 4 Université de Versailles-
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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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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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