2009 Vienna - European Society of Human Genetics

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Molecular basis of Mendelian disorders Twelve individuals were classified as affected after determine a downward herniation of cerebellar tonsils of ≥3mm through the foramen magnum and a volume reduction of the posterior fossa in a MRI sagittal view. After carrying out cytogenetic analysis to rule out major chromosomal rearrangements, a single nucleotide polymorphism (SNP)based, 0.62cM density genomewide scan was performed in the 21 first recruited individuals. Results: Preliminary linkage analysis considering 21 individuals revealed a disease locus in a 4.3Mb region on 16q13.3 with a maximum multipoint parametric LOD score of 3.109. Several candidate genes map to this region. Further analysis will include ten recently recruited individuals and additional microsatellite markers. Conclusions: A genetic locus in CMI has been described, underscoring the monogenic character of the disorder in some families. Elucidation of the putative disease-causing gene in 16p13 awaits further investigation. P12.033 Genetic Heterogeneity of Geleophysic Dysplasia C. Le Goff 1 , N. Dagoneau 1 , P. Stephan 1 , I. Diebold-Pressac 1 , V. Drouin-Garraud 2 , R. Hennekam 3 , S. Mansour 4 , G. Mortier 5 , M. Splitt 6 , A. Superti-Furga 7 , S. Unger 7 , M. Le Merrer 1 , A. Munnich 1 , V. Cormier-Daire 1,8 ; 1 INSERM, Paris, France, 2 Hôpital Charles Nicolle, Rouen, France, 3 Academic Medical Center, Amsterdam, The Netherlands, 4 St George’s university of London, London, United Kingdom, 5 Ghent University Hospital, Ghent, Belgium, 6 Institute of Human Genetics, Newcastle, United Kingdom, 7 Department of Pediatrics, University of Freiburg, Freiburg, Germany, 8 Université Paris Descartes, Paris, France. Geleophysic dysplasia (OMIM 231050, GD) is an autosomal recessive disorder characterized by short stature, small hands and feet, coneshaped epiphyses, delayed bone age and shortened tubular bones. Patients present with a progressive cardiac disease with dilation and thickening of the pulmonary, aortic or mitral valves often leading to death before 5 years of age. Studying six GD families, we mapped the disease locus gene on chromosome 9q34.2 and identified four distinct misense mutations and a nonsense mutation in the A Disintegrin And Metalloproteinase with Thrombospondin repeats- like 2 gene (ADAMT- SL2). The ADAMTS-like subfamily comprises proteins homologous to the ADAMTS ancillary domains but lacking the protease domain and hence lacking catalytic activity. Their functions are yet unknown. Using a yeast two hybrid screen, we identify Latent TGFβ Binding Protein 1 (LTBP1) as a partner of ADAMTSL2. We also found a higher level of active TGFβ and an enhanced level of phoshorylated SMAD2 in GD fibroblasts allowing us to conclude at an enhanced TGFβ signalling. Following this initial study, we have collected the samples of 18 additional GD families and identified ADAMTSL2 mutations in 6/18 comprising 4 novel mutations. We do not find any distinctive clinical feature between patients with or without ADAMTSL2 mutation. Finally, we also found an increase TGFβ level in non mutated ADAMTSL2 fibroblasts. We conclude that GD is a clinically homogenous but genetically heterogeneous condition. On going studies will hopefully lead to the identification of another disease gene presumably also involved in the bioavailability of TFGβ. P12.034 DNA-diagnostics of choroideremia in Russian family O. V. Khlebnikova 1 , S. V. Gudzenko 1 , N. A. Beklemitcheva 2 , A. V. Polyakov 1 ; 1 1- Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russian Federation, 2 2- Moscow Research Institute of Eye Diseases, Moscow, Russian Federation. Choroideremia - is a congenital X-linked ocular disease characterized by the degeneration of the choriocapillaris, the retinal pigment epithelium and the photoreceptor of the eye. The disorder leads to the progressive loss of vision beginning at an early age resulting from the complete atrophy of the choroid and retina. The CHM gene responsible for choroideremia, is located on Xq21.2, contains 15 exons and encodes a protein, the Rab escort protein-1 (REP1), which is involved in membrane trafficking. Currently, there are about 110 mutations in CHM gene, and these are all nonsense, frameshift or splice site mutations leading to choroideremia. The purpose of our study was elaboration of DNA-diagnostics of choroideremia in affected Russian patient. Sequencing analysis of all exons and intron-exon junctions of CHM in affected man showed a previously described nonsense mutation Arg253Stop (c. 757C>T) in exon 6 of CHM. Restriction analysis performed in a sister of the patient, who has small clinical presentations of choroideremia, detected mutation Arg253Stop (c. 757C>T) in heterozygous state. Thus the given DNAanalysis results revealed a disease-causing mutation Arg253Stop (c. 757C>T) and confirm the diagnosis “choroideremia” in the clinical case. P12.035 Functional analysis of chronic pancreatitis-associated 5‘ regulatory variants in the pancreatic secretory trypsin inhibitor (sPiNK1) gene A. Boulling, J. M. Chen, C. Férec; INSERM U613, Brest, France. Introduction: The SPINK1 gene, which encodes the pancreatic secretory trypsin inhibitor, is one of the major genes predisposing to chronic pancreatitis. To date, a dozen of variations have been described in the 5’ regulatory region (RR) of SPINK1 but their functional effects remain unknown. The aim of this study was to systematically characterize all these currently known 5’ RR variants. Method: The wild-type 5’ RR of SPINK1 was firstly cloned into the pGL3-Basic Luciferase Reporter Vector. All the 5’ RR variations in the SPINK1 gene were then introduced into the pGL3-SPINK1 construct, respectively, by means of site-directed mutagenesis. SPINK1 promoter activities were determined in human pancreatic Colo-357 cells. Functional relevance of some variants was further evaluated by EMSA. Results: The 5’ RR variations can be divided into three categories in terms of luciferase expression, which correlated well with clinical findings. The variants that caused a decreased expression often show consistent disease association among different studies whilst those that had no effect on expression often show equal allele distribution between patients and controls. The variants that caused an increased expression are, in fact, in cis with a known disease-causing mutation. EMSA assay demonstrated that variations located in well defined regulatory motifs affected protein-DNA interactions. Conclusion: This work was the first to assess the functional impact of the 5’-RR’s SPINK1 variations. Our finding clarified the role of the diverse SPINK1 5’ RR variants in the etiology of chronic pancreatitis and resulted in a better understanding of the genotype/phenotype relationship. P12.036 Genetic background of primary ciliary dyskinesia in Polish patients - search for mutations in candidate genes E. Zietkiewicz 1,2 , U. Skrzypczak 1 , K. Voelkel 1 , B. Nitka 1 , E. Rutkiewicz 1 , A. Pogorzelski 3 , M. Witt 1,4 ; 1 Department of Molecular and Clinical Genetics, Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland, 2 Supported by, Kbn 3po5e 038- 24; pbz kbn 122/p05-1; nn401-277534, Poland, 3 Institute of Tuberculosis and Lung Diseases, Pediatric Section, Rabka, Poland, 4 International Institute of Molecular and Cell Biology, Warszawa, Poland. The study group comprises families with Kartagener syndrome (KS) and CDO (ciliary dysfunction only). molecular analysis of the genes involved in PcD pathogenesis. DNAH . Sixty-eight families were analyzed for the consistency in the inheritance of neutral intragenic SNPs and the disease phenotype. In total, 109 PCD families were screened for the presence of mutations in DNAH5 exons using SSCP/ heteroduplex method. In 77 (of 79) exons analyzed, we identified 13 STOP mutations (including four already reported) and 11 missense not found in the control Polish population. Four mutations (3 STOPs, also found in European patients, and one missense in exon 32 not reported before) were found in more than one family; haplotype background analysis indicated common origin for each of these repetitive mutations. DNAI . The search for mutations in DNAI1 was conducted in 113 families without DNAH5 mutations. Among 18 (of 20) exons examined, four harbored mutations (three reported and two newly found). The most frequent were: insertion in intron 1 and missense in exon 17, previously reported among European patients. Mutations in DNAH5 and DNAI1 are responsible for PCD/KS in at least 20% and 8% Polish families, respectively, all with ODA defects. Genetic background of atypically inherited PcD. Two families with overlapping X-linked RP and PCD symptoms were examined. In one, a mutation in exon 2 of the XL-RPGR gene has been identified and shown to cause aberrant
Molecular basis of Mendelian disorders RNA splicing. In the second family, a substitution in intron 2 (+5g>a) has been found with unknown effect on splicing. P12.037 Analysis of RUNX in a Danish cohort of cleidocranial dysplasia patients revealed two large chromosomal deletions and 14 pathogenic point mutations L. Hansen1,2 , A. K. Riis1 , H. Hove1 , E. Lauridsen1 , H. Eiberg1 , S. Kreiborg1 ; 1 2 Copenhagen University, Copenhagen, Denmark, The Wilhelm Johannsen Centre for Functional Genome Research, Copenhagen, Denmark. Cleidocranial dysplasia (CCD) is an autosomal dominant inherited disease caused by mutations in the Runt gene RUNX2 (alias CBFA1; OMIM 600211). No other candidate genes or loci are known from family studies. In a cohort of 19 Danish CCD patients, pathogenic RUNX2 mutations were found in 16 cases. This represents a higher mutation detection rate than reported by similar studies (1). The mutations represent six missense mutations, two nonsense mutations and four shift mutations plus two large chromosomal deletions. Eight mutations were novel and six were known mutations, and two mutations were found in two families each. The large deletions at 6p12.3-21.1 represent 500 Kbp and 750 Kbp respectively and included exon 1 to 6 of RUNX2 and the proximal located SUPT3H gene. The point mutations were mainly found in the Runt domain and the nuclear leading sequence of RUNX2. Two repeat variations were found in the poly alanine and glutamine repeats in three cases. These were judged to be non-pathogenic that additional functional mutations were found in the coding regions. In total 9 different cohorts of CCD patients including this work, represent 199 families and RUNX2 mutations were found in 124 of these, which represent 61% compared to the 84% in this study. Identification of the two large deletions by mutation screening of CCD patients has not been reported before and suggests that future mutation studies must include analyses for large chromosomal deletions or duplications. P12.038 A novel VPs13B mutation in two brothers with cohen syndrome, cutis verticis gyrata and sensorineural deafness A. Mégarbané 1,2 , R. Slim 3 , G. Nürnberg 4 , I. Ebermann 5 , P. Nürnberg 4 , H. J. Bolz 5 ; 1 Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon, 2 Institut Jérôme Lejeune, Paris, France, 3 Departments of Human Genetics and Obstetrics Gynecology, McGill University Health Centre, Montreal, QC, Canada, 4 Cologne Center for Genomics and Institute for Genetics, University of Cologne, Cologne, Germany, 5 Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany. We have previously described a syndrome characterized by microcephaly, cutis verticis gyrata (CVG), retinitis pigmentosa, cataracts, hearing loss and mental retardation (MIM #605685) in a non-consanguineous Lebanese family. In view of the rarity of the disorder and the high rate of inbreeding in Lebanese, we assumed an autosomal recessive trait inherited from a common ancestor. Indeed, genomewide linkage analysis resulted in a single region on chromosome 8q22 with homozygosity by descent in the patients, comprising the Cohen syndrome (CS) gene, VPS13B. We identified a novel homozygous splice site mutation that activates a cryptic acceptor site in exon 52. CVG and deafness have never been reported in CS. This may reflect a variant of CS. Alternatively, there may be an overlap of genetic conditions: Offspring from consanguineous parents may be homozygous for mutations in unlinked genes. Deafness and CVG could be caused by mutations in different loci. However, our linkage data do not suggest another causative locus. Another mutated gene or modifier locus may segregate in cis and be responsible for deafness and CVG, but no deafness locus maps to our 8q22 region. In contrast, the frequent association of CVG with mental retardation suggests that it may be a rare manifestation of CS. The mapping approach conducted here can serve as a paradigm in rare recessive phenotypes: The prevalence of homozygosity for the causative mutations can also be high in families without documented consanguinity, due to a distant common ancestor, especially in small populations with a high rate of inbreeding. P12.039 Large deletion comprising COL A causes aortic dissection J. Meienberg1 , S. Neuenschwander2 , A. Patrignani2 , S. Alonso1 , E. Arnold1,3 , C. Henggeler1 , R. Perez1 , S. Azzarello-Burri4 , B. Steiner4 , K. Spanaus5 , S. Regenass6 , C. Giunta3 , M. Rohrbach3 , T. Carrel7 , B. Steinmann3 , W. Berger1 , G. Matyas1 ; 1Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland, 2Functional Genomics Center Zurich, ETH and University of Zurich, Zurich, Switzerland, 3Division of Metabolism and Molecular Pediatrics, University Children’s Hospital, Zurich, Switzerland, 4Institute of Medical Genetics, University of Zurich, Zurich, Switzerland, 5Institute for Clinical Chemistry, University Hospital, Zurich, Switzerland, 6 7 Division of Clinical Immunology, University Hospital, Zurich, Switzerland, Clinic for Cardiovascular Surgery, University Hospital, Berne, Switzerland. Aortic dissection (AD) is a life-threatening condition associated with high rates of morbidity and mortality. AD can occur non-syndromic, e.g. in the case of familial thoracic aortic aneurysms leading to type A dissections (TAAD), or in association with genetic syndromes, such as Marfan syndrome (MFS) caused by FBN1 mutations, Loeys-Dietz syndrome caused by TGFBR1 or TGFBR2 mutations, and vascular Ehlers-Danlos syndrome (EDS IV) caused by COL3A1 mutations. Although mutations in FBN1, TGFBR1, and TGFBR2 account for the majority of AD cases referred to us for molecular genetic testing, we have encountered negative genetic testing results in a large group of patients, suggesting the involvement of other genes, e.g. COL3A1, ACTA2 or MYH11, as the genetic cause of AD. In this study, we have assessed the impact of COL3A1 mutations in patients with suspected MFS in whom mutation screening in FBN1 and/or TGFBR1 and TGF- BR2 revealed no disease-causing sequence variation. MLPA analysis of 133 unrelated patients identified the heterozygous deletion of the entire COL3A1 gene in one patient with abdominal AD. Subsequent microarray analyses and sequencing of breakpoints revealed the deletion size of 3,408,306bp. Furthermore, DNA sequencing of 29 unrelated patients identified two novel exonic COL3A1 sequence variants (c.1105G>A and c.1854A>T). Our data not only emphasize the importance of screening for COL3A1 mutations in comprehensive genetic testing of AD patients with suspected MFS not fulfilling the Ghent criteria, but also extend the molecular etiology of EDS IV by providing hitherto unreported evidence for true haploinsufficiency of COL3A1. P12.040 Variant phenotype in individuals with severe cYP 21 mutations M. Kocova, V. Anastasovska, E. Sukarova-Angelovska, E. Kochova; Pediatric Clinic, Skopje, Macedonia, The Former Yugoslav Republic of. Congenital adrenal hyperplasia(CAH) is a common autosomal recessive disease most frequently occurring due to mutations in the CYP 21 gene. Several “severe” mutations are reported to cause severe salt wasting(SW) form of the disease. However, homozygous carriers of the mutations without clinical symptoms have been described. Aim. To analyze severe CYP 21 mutations in patients with CAH and their relatives and to analyze genotype/phenotype correlation. Material and methods. Sixteen children (6 boys and 10 girls) with CAH from 12 families were diagnosed with salt wasting CAH. The diagnosis was confirmed by high 17-OHProgesterone levels. Molecular analysis was performed in all patients and 22 first degree relatives with ACRS-PCR method detecting 11 frequent mutations. Total of 66 chromosomes were analyzed, 32 in patients, and 34 in relatives. Results. Intron 2 splicing mutation (nucleotide 656) was the most common (33/66=50%), followed by codon 318(exon 8) mutation (15/66=22.9%). Complex mutations were present in two children and two relatives. All 16 children with SW had severe mutations. However, 6 relatives were also homozygous for severe or had complex mutations without symptoms. Prenatal diagnosis helped prompt treatment of two newborn boys. Four of the relatives had I2 homozygous splicing mutation. “Leaky” mutation might be an explanation in these cases. However, the complex mutations are more difficult to explain. Conclusion. Although severe mutations were associated with the SW form, it is difficult to explain the homozygosity in healthy relatives. This complicates the prenatal diagnosis and counseling. Further analysis in individuals with no genotype/phenotype correlation is warranted.
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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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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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