2009 Vienna - European Society of Human Genetics

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Molecular basis of Mendelian disorders lymphatic gusher at stapes surgery and with a characteristic inner ear malformation. We have defined the phenotype of 8 independent females carrying POU3F4 anomalies. A late-onset hearing loss is found in 3 patients. Only one has an inner ear malformation. No genotype/ phenotype correlation is identified. P12.077 An autosomal recessive nonsyndromic deafness locus is assigned to chromosome 18q12.3-21.1 E. Pras 1 , H. Masri 1 , H. Reznik Wolf 1 , A. Abu 1 , Z. Brownstein 2 , K. B. Avraham 2 , M. Frydman 1 ; 1 Danek Gartner Institute of Human Genetics, Tel Hashomer, Israel, 2 Dept. of Human Molecular Genetics & Biochemistry, Sackler School of Medicine, Tel Aviv, Israel. We studied a large non-consanguineous Ashkenazi family in which 5 of 10 children suffer from profound, prelingual hearing loss. A genome wide search mapped the disease gene to a n 8 Mb interval on chromosome 18q12.3-21.1, and a maximum lod score of 3.03 was obtained with the marker AC021763 at θ =0.00. Saturation of the region with additional polymorphic markers and SNP’s revealed a 3.5 Mb homozygous interval in the affected sibs. The region contains 12 known genes, none of which have been previously associated with hearing loss. Sequencing of one gene from the interval, SLC14A1 did not reveal any pathogenic variants in the exons or in the flanking intronic sequences. Currently additional genes are being sequenced. These results define a novel locus for autosomal recessive hearing loss on chromosome 18q12.3-21.1. P12.078 High-resolution breakpoint mapping of novel rearrangements involved in alpha- and beta-thalassemia using arraycomparative Genomic Hybridization (acGH) M. Phylipsen, I. P. Vogelaar, Y. Ariyurek, J. T. den Dunnen, P. C. Giordano, C. L. Harteveld; Leiden University Medical Center, Leiden, The Netherlands. Thalassemias are hereditary microcytic hypochromic anemias characterized by abnormalities in hemoglobin production due to reduced expression of either the beta-globin gene, leading to beta-thalassemia, or the alpha-globin genes, giving rise to alpha-thalassemia. About 10% of the beta-thalassemias and 90% of the alpha-thalassemias are caused by deletions in either globin gene cluster. In a previous study, we applied Multiplex Ligation-dependent Probe Amplification (MLPA) to characterize large rearrangements in the alpha- and beta-globin gene cluster. Several new deletions and duplications were found, however, the exact breakpoint sequences are still unknown. To facilitate confirmation by breakpoint PCR and to gain more insight in the mechanisms causing these rearrangements we decided to determine the precise location of breakpoints. Array Comparative Genomic Hybridization (aCGH) measures DNA copy number differences between a reference and a patient’s genome sample thereby detecting and mapping deletions and duplications. We used high resolution tiling arrays with 135,000 probes spaced at a density of ~15 bp to map the breakpoints to an interval that can be validated by PCR and sequencing. The array was hybridized to a set of 55 thalassemia patients who were found to carry a deletion in the alpha- or beta-globin gene cluster. The fine mapping results were used to design breakpoint PCRs and resulting fragments were sequenced to determine the precise breakpoint. P12.079 Multiplex ligation-probe dependent amplification (MLPA) and Hemophilia A: detection of deletions in patients and tool for carrier status in female relatives. R. Santacroce1 , V. Longo1 , V. Bafunno1 , F. Sessa1 , M. Chetta1 , M. Sarno1 , N. Bukvic1 , G. D’Andrea1 , M. Margaglione1,2 ; 1 2 Genetica Medica, Foggia, Italy, Unita’ di Emostasi e Trombosi I.R.C.C.S. “Casa Sollievo della Sofferenza”,, San Giovanni Rotondo, Italy. Haemophilia A is an X-linked bleeding disorder caused by mutations widespread in the human coagulation F8 gene. Most of the mutations in the F8 gene are detectable using genomic sequencing analysis. However, deletions of one or more exons or encompassing the entire gene can go undetected, especially in heterozygous females. Recently, MLPA has been broadly applied to gene mutation screening to detect exon deletions and duplications. Different deletions were detected using MLPA assay on 25 patients affected by severe haemophilia A, resulted mutation negative by sequencing analysis. Traditional PCR failed to amplify one or more exons in some of these patients and we decided to use the MLPA test in order to confirm the conjectured deletions: 7 deletions were revealed in haemophiliacs patients and we identified the carrier status in 2 female. F8 mutational screening could be improved by adding MLPA to sequence analysis and MLPA is a helpful tool in order to define the status of carriers in female relatives of haemophiliacs with deletions of one or more exons of F8 gene. It is to underline the importance of performing a molecular analysis in females suspected haemophiliacs carriers: the main obstacle to their counselling is the impossibility to demonstrate a heterozygous status because of the amplification of the exon/s that is/are present on the normal X chromosome. So, the only way to make a definitive diagnosis is to detect the mutation in F8 gene and MLPA provides an important tool for the detection of its complete mutational spectrum. P12.080 Genotyping of coagulation Factor iX gene in Hemophilia B Patients of Esfahan Province L. Kokabee 1,2 , N. karimi 1 , S. Zeinali 1 , M. Karimipoor 1 ; 1 Molecular Medicine dept., Biotechnology Center, Pasteur Inistitute of Iran, Tehran, Islamic Republic of Iran, 2 Khatam University, Tehran, Islamic Republic of Iran. Hemophilia B, Christmas disease, is an X-linked bleeding disorder caused by the functional deficiency of blood coagulation factor IX. The disease is due to heterogeneous mutations in the factor IX gene (F9), located at Xq27.1. It spans about 34 kilobases (kb) of genomic DNA. The aim of this study was molecular analysis and genotype- phenotype correlation of hemophilia B patients in Isfahan province, Iran. After obtaining informed consent, genomic DNA was extracted from the peripheral blood of 37 patients referred from Isfahan hemophilia center, by standard methods. PCR amplification, SSCP and CSGE techniques were performed for scanning of the all functional-important regions of the F9 gene. DNA sequencing were performed for those with different migration patterns in SSCP or CSGE by chain termination method. In addition, haplotype were constructed using four the DdeI, TaqI, HhaI and MnlI restriction fragment length polymorphisms (RFLPs) markers. The sequencing results showed 70.3% missense mutation, 18.9% nonsense mutation, 8.1% deletion, 2.7% insertion. In this study, of the 19 hemophilia B patients of the Kashan, all of them were represented substitution (G6472A) that could represent a founder effect. Five novel mutations which have not been reported in hemophilia B mutation database, were also found. The information obtained from this study could be used to diagnose potential female carriers in families with hemophilia B patients and prenatal diagnosis. P12.082 molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations M. Ferré 1,2,3 , D. Milea 4,5 , A. Chevrollier 1,3 , H. Dollfus 6,7,8 , C. Ayuso 9 , S. Defoort 10,11,12 , C. Vignal 13 , X. Zanlonghi 13,14 , J. Charlin 15,16 , J. Kaplan 17,18,19 , S. Odent 15,20 , C. P. Hamel 21,22 , V. Procaccio 2,3,23 , P. Reynier 1,2,3 , P. Amati-Bonneau 1,3 , D. Bonneau 1,2,3 ; 1 INSERM, U694, Angers, France, 2 Université d’Angers, Faculté de Médecine, Angers, France, 3 CHU d’Angers, Département de Biochimie et Génétique, Angers, France, 4 Glostrup Hospital, Department of Ophthalmology, Glostrup, Denmark, 5 University of Copenhagen, Copenhagen, Denmark, 6 INSERM, Equipe Avenir 3439, Strasbourg, France, 7 Université Louis Pasteur-Strasbourg, Faculté de Médecine, Laboratoire de Génétique Médicale, Strasbourg, France, 8 CHRU de Strasbourg, Service de Génétique Médicale, Strasbourg, France, 9 Fundación Jiménez Díaz, Servicio de Genética, CIBERER, Madrid, Spain, 10 CNRS, UMR 8160, Lille, France, 11 Université de Lille 2, Lille, France, 12 CHRU de Lille, Hôpital Roger Salengro, Service d’Explorations Fonctionnelles de la Vision, Lille, France, 13 Fondation Rothschild, Département d’Ophtalmologie, Paris, France, 14 Clinique Sourdille, Laboratoire d’Explorations Fonctionnelles de la Vision, Nantes, France, 15 Université de Rennes 1, Faculté de Médecine, Rennes, France, 16 CHU de Rennes, Service d’Ophtalmologie, Rennes, France, 17 INSERM, U781, Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement, Paris, France, 18 Université Paris Descartes, Faculté de Médecine, Paris, France, 19 AP-HP,
Molecular basis of Mendelian disorders Groupe Hospitalier Necker, Service de Génétique Médicale, Paris, France, 20 CHU de Rennes, Département de Médecine de l’Enfant et de l’Adolescent, Rennes, France, 21 CHRU de Montpellier, Montpellier, Montpellier, France, 22 Université Montpellier1 et Montpellier2, Institut des Neurosciences, Montpellier, France, 23 CNRS, UMR6214, INSERM, U771, Angers, France. We report the results of molecular screening in 980 patients carried out as part of their work-up for suspected hereditary optic neuropathies. Among these patients, 588 (60%) had a family history of hereditary optic atrophy whereas the remaining 392 (40%) patients had no obvious family history of the disease. All the patients were investigated for Leber’s hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA), by searching for the ten primary LHON-causing mtDNA mutations and examining the entire coding sequences of the OPA1 and OPA3 genes, the two genes currently identified in ADOA. Molecular defects were identified in 440 patients (45% of screened patients). Among these, 295 patients (67%) had an OPA1 mutation, 131 patients (30%) had an mtDNA mutation, and 14 patients (3%), belonging to three unrelated families, had an OPA3 mutation. Interestingly, OPA1 mutations were found in 157 (40%) of the 392 apparently sporadic cases of optic atrophy. The eOPA1 locus-specific database now contains a total of 204 OPA1 mutations, including 77 novel OPA1 mutations reported here. The statistical analysis of this large set of mutations has led us to propose a diagnostic strategy that should help with the molecular work-up of optic neuropathies. Our results highlight the importance of investigating LHON-causing mtDNA mutations as well as OPA1 and OPA3 mutations in cases of suspected hereditary optic neuropathy, even in absence of a family history of the disease. P12.083 synergistic effect of spastin gene mutations in a Hungarian patient with hereditary spastic paraplegia (HsP) A. Gal1 , K. Mede2 , V. Remenyi1 , S. Wiess3 , U. Goelnitz3 , M. J. Molnar1 ; 1Clinical and Research Centre for Molecular Neurology, Budapest, Hungary, 2 3 Vasary Kolos Hospital, Esztergom, Hungary, Centogene GmbH, Institute of Molecular Diagnostics, Rostock, Germany. Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous disorders characterized by progressive spasticity of the lower limbs. Mutations in the SPG4 gene, which encodes spastin protein, are responsible for up to 45% of autosomal dominant cases. Here we present a Hungarian family, in which the 31 year old proband has pronounced progressive spastic paraparesis, increased deep tendon reflexes and pyramidal sings in the lower limbs. She suffers from urinary incontinence. The proband was born with club feet. Her 58 year old mother’s symptoms started at age 48 with mild walking problems. She has mild spastic paraparesis, increased deep tendon reflexes and pyramidal signs in the lower limbs. DNA analysis by direct sequencing of all exons in SPG1, SPA2, SPG3a and SPG4 genes revealed the following: the proband is compound heterozygous for the sequence variants C131T (S44L) and C1684T (R562Term) in the spastin (SPG4) gene. In her mother only the C1684T (R562Term) mutation was detected. The C1684T substitution has been previously described as a pathogenic mutation. Although the S44L amino acid change has been described in the literature as a pathogenic mutation more current data suggest this change is a harmless polymorphism (rs28939368) if it occurs alone. In the presence of a disease causing mutation it may act as a modifier, leading to an earlier age of onset. We can conclude that in the proband the coexistence of S44L and R562Term resulted in the severity clinical symptoms and early age of onset. P12.084 Frequency of sPG42 in Autosomal-Dominant spastic Paraplegia (AD-HsP) N. Schlipf 1 , R. Schüle 2,3 , C. Beetz 4 , A. K. Erichsen 5 , S. Forlani 6,7 , S. Otto 8 , S. Klebe 9 , S. Klimpe 10 , K. Karle 11 , C. Tallaksen 5 , G. Stevanin 6,7 , A. Brice 6,7 , O. Rieß 1 , L. Schöls 2,11 , P. Bauer 1 ; 1 Department of Medical Genetics, Institute of Human Genetics, Tübingen, Germany, 2 Department of Neurology, University of Tübingen, Tübingen, Germany, 3 Research Division for Clinical Neurogenetics, Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, Tübingen, Germany, 4 Institute for Clinical Chemistry and Laboratory Diagnostics, University Hospital Jena, Jena, Germany, 5 Ullevål University Hospital, Oslo, Norway, 6 INSERM, U679, Paris, France, 7 Université Pierre et Marie Curie - Paris 6, URM S679, Paris, France, 8 Department of Neurology, Ruhr-University Bochum, Bochum, Germany, 9 Department of Neurology, University of Schleswig Holstein, Kiel, Germany, 10 Department of Neurology, University of Mainz, Mainz, Germany, 11 Research Division for Clinical Neurogenetics, Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, Tübingen, Germany. Background: Hereditary spastic paraplegia (HSP) represents a neurodegenerative disorder resulting in progressive spasticity of the lower limbs. The most frequent causes of autosomal dominant HSP (AD-HSP) are mutations in the SPAST-gene (SPG4 locus). However, roughly 60% of the patients remain SPG4 mutation-negative despite a family history compatible with autosomal dominant inheritance. Mutations in the gene for acetyl-CoA transporter (SLC33A1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG42. Objective: We wanted to determine the relative frequency of SPG42/ SLC33A1 mutations in index patients of AD-HSP families for whom SPG4 mutations had been excluded. Methods: We screened a large cohort of 263 SPG4 mutation-negative patients for variations in SPG42/SLC33A1 by high resolution melting (HRM) combined with direct sequencing. Results: Currently, aberrant melting curves were identified in 32 cases (12%). Subject to future investigation will be, for each resulting aberrant HRM curve the direct sequencing of the corresponding sample due to assess a variation. Further a multiplex ligation dependent probe amplification assay (MLPA) targeting SPG42 will investigate copy number variations. P12.085 Only rarely is thin corpus callosum (tcc) present in sPG11 - clinical heterogeneity and genetic data in a large international cohort A. Rolfs 1 , U. Goelnitz 2 , S. Weiss 2 , D. Friday 2 , P. Bauer 3 , K. Boycott 4 , J. Girouard 5 , P. Huan-Kee 6 , B. Lindvall 7 , I. Navarro Vera 8 , A. Summers 9 , L. Velsher 9 , M. Wittstock 10 ; 1 Albrecht-Kossel Institute for Neuroregeneration, Rostock, Germany, 2 Centogene GmbH, Rostock, Germany, 3 Department of Human Genetics, University of Tübingen, Tübingen, Germany, 4 Children´s Hospital of Eastern Ontario, Dept of Genetics, Ottawa, ON, Canada, 5 CHA, Hopital Enfant-Jesus, Quebec, QC, Canada, 6 Singapore Baby & Child Clinic, Mount Elizabeth Medical Centre, Singapore, Singapore, 7 Muscle centre, Dept of Neurology, Örebro, Sweden, 8 Centro de Analisis Geneticos, c/Santa Teresa 45, Zaragoza, Spain, 9 North York General Hospital, Toronto, ON, Canada, 10 Dept of Neurology, University of Rostock, Rostock, Germany. Spatacsin mutations cause an autosomal - recessive (AR) form of spastic paraplegia, SPG type 11 (SPG11). Typically SPG11 is been diagnosed in cases with slight ataxia, thin corpus callosum (TCC), mental impairment, pyramidal signs, increased deep tendon reflexes and only rarely neuropathy. In a cohort of 251 patients with AR-HSP we analysed SPG11 gene by sequencing the gene including the exon-intron boundaries and deletion screening by MLPA. We have been able to detect 88 mutated alleles in 44 patients from 37 non-related families. Patients are from Canada (N=11), Arabian countries (N=4), Scandinavia (N=3), East-Europe (N=9), Latin-America (N=2), 8 from Singapore, UK, Denmark, Spain, Germany, Austria and Croatia, resp. We found 64 different mutations (37 are not described): splice mutations 22/88 (25%), small deletions/insertions 38/88 (43%), large deletions (exon 11, 24, 27, 29, 31, 32, 34) 10/88 (11%), missense/nonsense mutations18/88 (20%). For 38 patients we got clinical data including MRI results (35 cases). Age at onset ranged from 8 to 38 years with a mean of 22.0+/-9.6. Onset was characterized by gait disorders (21/38, 55%), polyneuropathy (7/38, 18%), dementia, dystonia, tremor and dysarthria (each in three patients). Interestingly only in 15/35 (42%) a TCC has been demonstrable. This low frequency of TCC is in contrast to other reports and raises the question of the specificity of TCC for SPG11. Mutations within the exons 24 - 34 are correlated with a more severe phenotype. Our data demonstrate a great phenotypic variability and a high percentage of large deletions within the SPG11 gene
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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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Molecular and biochemical basis of
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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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