2009 Vienna - European Society of Human Genetics

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Cancer genetics P06.177 somatically acquired JAK mutations in adult acute lymphoblastic leukemia E. Flex 1 , V. Petrangeli 1 , L. Stella 2 , S. Chiaretti 3 , T. Hornakova 4 , L. Knoops 4 , F. Paoloni 3 , V. Cordeddu 1 , M. Sanchez 1 , G. Cazzaniga 5 , A. Tornesello 6 , M. Vignetti 3 , J. Renauld 4 , A. Biondi 5 , S. N. Constantinescu 4 , R. Foà 3 , M. Tartaglia 1 ; 1 Istituto Superiore di Sanità, Rome, Italy, 2 Università “Tor Vergata”, Rome, Italy, 3 Università “La Sapienza”, Rome, Italy, 4 Université catholique de Louvain, Bruxelles, Belgium, 5 Università di Milano Bicocca, Monza, Italy, 6 Università Cattolica del Sacro Cuore, Rome, Italy. Aberrant signal transduction contributes substantially to leukemogenesis. Here, we report that somatic mutations in the Janus kinase 1 (JAK1) gene, which encodes a cytoplasmic tyrosine kinase that noncovalently associates with a variety of cytokine receptors and plays a nonredundant role in lymphoid cell precursor proliferation, survival and differentiation, occur in individuals with acute lymphoblastic leukemia (ALL). JAK1 mutations were more prevalent among adult subjects with T-cell precursor ALL, where they accounted for 18% of cases, and were associated with advanced age at diagnosis, poor response to therapy and overall prognosis. All mutations were missense, some predicted to destabilize interdomain interactions controlling the activity of the kinase. Three mutations that were studied promoted JAK1 gain of function, and conferred interleukin 3-independent growth in Ba/F3 cells and/or interleukin 9-independent resistance to dexamethasoneinduced apoptosis in T cell lymphoma BW5147 cells. Such effects were associated with variably enhanced activation of multiple downstream signaling pathways. Leukemic cells with mutated JAK1 alleles shared a gene expression signature characterized by transcriptional upregulation of genes positively controlled by JAK signaling. Our findings implicate dysregulated JAK1 function in ALL, particularly of T-cell origin, and point to this kinase as a target for the development of novel anti-leukemic drugs. P06.178 study of the effect of mRP1 gene polymorphisms on its mRNA expression in acute leukemic patients S. Rezvani, F. Mahjubi, M. Montazeri; National Institute of Genetic Engineering&Biotechnology(NIGEB), Tehran, Islamic Republic of Iran. One of the major problems in treating cancer cells is that they can acquire drug resistance (so called Multidrug Resistance: MDR). There are several mechanisms responsible for MDR. One of the most important is the overexpression of ABC transporter genes. One of the most extensively studied genes involved in MDR is multidrug resistance protein 1 (MRP1). We have shown that the overexpression of this gene is associated with the MDR in Iranian leukemic patients. However, MRP1 gene amplification could not be identified in any of those patients. Another mechanism is the influence of the MRP1 gene polymorphisms on the expression level of the gene. We aimed to investigate the possible association between the expression level of MRP1 and occurrence of MDR in leukemic patients. Furthermore, we wished to test the hypothesis that MRP1 polymorphisms would be predictive of MDR in patients with acute leukemia. mRNA level of MRP1 was determined in 111 patients with acute leukemia (including 52 patients with AML and 59 patients with ALL) by quantitative real time RT-PCR and compared to the type of response to chemotherapy. We typed G816A,T825C,G2168A,C2217T,G2268A,G1299T,G-260C, A-275G MRP1 polymorphisms in those patients classified either drugresistant. We found that high expression of MRP1 was associated with MDR phenotype in both AML and ALL patients. There was no effect of a particular genotype on the expression level of the MRP1 gene. This could show the lack of dependency of any of these genotypes on the chemosensivity in this group of patients. P06.179 Expression analysis of the mitogenic growth factor receptors in childhood acute myeloid leukemia; increased Expression of Vascular Endothelial Growth Factor Receptor-1 and the Loss of Estrogen Receptor beta F. Atalar 1 , T. A. Tekiner 2 , S. Anak 3 , U. Ozbek 4 ; 1 Istanbul University, Istanbul Medical Faculty, Child Health Institute, Pediatric Endocrinology Department, Istanbul, Turkey, 2 Istanbul Technical University, Molecular Biology and Genetics Department, Istanbul, Turkey, 3 Istanbul University, Istanbul Medical Faculty, Department of Pediatric Hematology and Oncology, Istanbul, Turkey, 4 Istanbul University, Institute of Experimental Medical Research (DETAE), Genetics Department, Istanbul, Turkey. Constitutive PI3K/Akt/mTOR signaling is upregulated by the activating mutations of receptor tyrosine kinases, autocrine/paracrine secretion of growth factors and estrogens triggering the binding of ERα to PI3K and ERβ to AKT.Mutational analysis of FLT3 together with the expression analysis of VEGF receptors, estrogen receptors and IGF system were performed in pediatric AML (pAML) patients and controls, CD33+ cells isolated from healthy bone marrows.FLT3/ITD and FLT3/ D835 mutations have been identified in 12% and 2 % of 50 pAML patients respectively.Flt-1 and KDR expression were determined to be significantly higher in pAML patients.ERα expression was observed in 54.5% of the patients where diminished ERβ expression was determined.The results of the IGF system genes expression studies indicated higher IGF-1 expression(16.3 fold), and significantly lower IGF-2 and IGF-1R expressions in pAML patients.IGFBP-rP1 expression was 10.48 fold lower in pAML patients.Expression studies of initiator caspases, caspase8 and caspase9 revealed low level of caspase9 and increased level of caspase8(13.6 fold) expression in pAML patients. IGFBP-rP1 and caspase8 expressions were also evaluated by western blot analysis in pAML samples.Upregulation of PI3K/Akt pathway through altered expression levels of upstream mitogenic growth factors and their receptors were also confirmed by altered expression levels of Akt downstream genes; c-myc and cyclin D1 as a result of GSK3ß phosphoinhibition in pAML patients.To our knowledge this is the first data representing the loss of ERβ gene expression in pediatric AML patients.Our study showed that IGF-1 and caspase8 could be potential antiapoptotic markers and IGFBP-rP1 a new tumor suppressor in pAML. P06.180 study of suz12 gene expression in chronic myelogenous leukemia patient M. Ghalandary 1 , B. Hassannia 1 , M. Behmanesh 1 , M. T. Akbari 2 ; 1 Department of Genetics, Faculty of Basic Science,Tarbiat Modares University, Tehran, Islamic Republic of Iran, 2 Department of Medical Genetics, Faculty of Basic Science,Tarbiat Modares University, Tehran, Islamic Republic of Iran. Polycomb group proteins are transcriptional repressors that play a central role in the establishment and maintenance of gene expression patterns during development. Trimethylation of histone H3 on lysine 27, mediated by a PcG protein complex consisting of Eed, Ezh2, and Suz12, is integral in differentiation, stem cell self-renewal, and tumorigenesis. Deregulated activity of the chromatin remodeling Polycomb Repressive Complex 2 (PRC2) has recently been shown to be a frequent event in human tumors. Recent study shows that loss of Suz12, a core component of Polycomb Repressive Complex 2 (PRC2), function enhances hematopoietic stem cell (HSC) activity. Their study suggests that PRC2 is required to maintain a specific gene expression pattern in hematopoiesis that is indispensable to normal stem cell function. Chronic myelogenous leukemia (CML) is a clonal myeloproliferative disorder of the hematopoeitic stem cell (HSC). In this study the expression level of Suz12 gene was compared between CML patiens and control group. In this report we will present the obtained results. P06.181 Fluorescence in situ Hybridization Analysis of the htERc Region in Acute myeloid Leukemia Patients O. Ozer, T. Bulakbasi Balci, Z. Yilmaz, F. I. Sahin; Baskent University Faculty of Medicine Department of Medical Genetics, Ankara, Turkey. Telomerase is a ribonucleoprotein complex consisting of reverse transcriptase (hTERT), proteins (hTP1) and RNA template for telomeric DNA synthesis (hTERC). The telomerase RNA component (TERC) gene is located at 3q26. Increased TERC gene dosage has been detected frequently in a variety of human cancers, suggesting a growth advantage in cells with increased gene dosage. Amplification was shown by fluorescence in situ hybridization (FISH) in different cancers. It has been suggested that the activation of telomerase in leukemic cells may be connected with amplification of hTERT and hTERC genes. The aim of this study was to investigate whether there 0
Cancer genetics is hTERC gene amplification detectable by FISH in acute myeloid leukemia (AML) cells. The bone marrow samples of 23 newly diagnosed adult AML patients were retrospectively analyzed for this study. We did not detect a visible abnormality of the 3q region with the previous conventional cytogenetic analyses of the patients. Interphase cells were hybridized with hTERC (3q26) / 3q11 probe (Kreatech, Netherlands). We did not detect amplification of the region in patients. Although it has been reported that hTERT gene amplification may partially contribute to the increased telomerase expression and activity in leukemic cells, it is not possible to make such a conclusion with a small number of patients with the results of the current study, as we did not detect amplified hTERC in our group of patients. P06.182 High resolution cytogenetic analysis of a clonal der(2)t(1;2)(q31. 2;q24.1) in an acute myeloid leukaemia G. Gemayel1 , A. Aboura2 , A. C. Tabet2 , M. Maurin2 , B. Benzacken2 , K. Yakoubi2 , A. Baruchel2 , J. Marie3 , S. Haiat3 , B. Riou3 , F. Viguie3 ; 1 2 Hopital Robert Debré, Paris, France, Robert debré, Bd Sérurrier, France, 3Hotel Dieu, Place du Parvis Notre Dame, Paris, France. A 25-year old woman was admitted for an acute myeloid leukaemia, AML-M2 according to FAB classification. Bone marrow karyotype at diagnosis showed an unbalanced reciprocal translocation der(2)(t(1;2)(q?31;q2?3) as sole clonal abnormality, in major part of mitoses. This rearrangement was not known as recurrent, leading to a partial trisomy 1q and monosomy 2q of undefinite prognosis. After a primary resistance to induction chemotherapy, a complete remission was obtained and patient could benefit from a bone marrow transplantation. She is still in remission at 1 year post diagnosis. Breakpoints 1q and 2q of the translocation were precisely defined by CGH array with a Perkin Elmer 5200 BAC clones chip, in order to detect a potential new fusion gene. The study performed from diagnosis bone marrow which contained 61% blast cells, confirmed the 1q and 2q imbalance, with breakpoints at 1q31.2 and 2q24.1. A FISH analysis was performed with BAC probes of the ship, located the closer from both breakpoints. 2q24.1BAC probe was deleted on der(2) but 1q31.2 BAC probe which covers 3 coding genes was entirely retained by der(2). Investigations with other probes covering the breakpoint region are in progress. P06.183 Detection and Assessment of prognostic significance of ALK gene rearrangement in NHL patients H. F. I. A. Kayed 1 , Mona Wahba2, Amany Osman2, Manal Ismaeil2, Dina Adel2, Amal Mahmoud1., M. Wahba 2 , A. Osman 2 , M. Ismaeil 2 , D. Adel 2 , A. Mahmoud 1 ; 1 National Research Centre, Cairo, Egypt, 2 Ain Shams University, Cairo, Egypt. The non random genetic aberrations in non Hodgkin lymphoma (NHL) involving anaplastic lymphoma kinase (ALK) gene, t(2;5)(p23;q35) creates NPM-ALK fusion gene, with tyrosine kinase activity responsible for its oncogenic property; by activation of downstream effectors such as phospholipase C. Thus this work aimed to detect ALK gene (2p23) rearrangement in various types of NHL by conventional cytogenetics (CC) and fluorescence in situ hybridization techniques (FISH), and to compare between the results of both techniques. To delineate this aim, ALK gene rearrangement was investigated in 25 newly diagnosed grade IV adult NHL patients. FISH analysis revealed positive ALK rearrangement in 5 (20%) cases, 4 of them were diagnosed as anaplastic lymphoma and one as DLBCL in comparison to absolute negative detection of t(2;5)(p23;q35) by CC; proving the superiority of FISH in detection of specific genetic aberrations. According to the results of FISH analysis, patients were divided into: Group I: with normal ALK signals, Group: II with ALK aberrations. In conclusion, ALK gene rearrangement was detected in NHL patients with different histopathological subtypes, showing maximum expression in ALCL. It was correlated with good patient outcome, indicating its importance as an important prognostic factor and its potential as a promising target for therapeutic intervention. FISH technique possessed the upper hand in detection of ALK rearrangements as an example of specific targeted aberrations in comparison to CCA. Nevertheless, conventional karyotyping remained the cornerstone in cytogenetic analysis because of its ability to simultaneously scan for various aberrations affecting many chromosomal loci. P06.184 chromosomal abnormalities in 50 patients with B-cell chronic lymphocytic leukemia detected by array comparative genomic hybridization H. Urbankova, M. Holzerova, R. Plachy, Z. Pikalova, T. Papajik, K. Indrak, M. Jarosova; Department of Hemato-oncology, University Hospital and Palacky University Olomouc, Olomouc, Czech Republic. B-cell chronic lymphocytic leukemia (B-CLL) is the most common adult leukemia. The progress in molecular genetic characterization of B-CLL confirmed the prognostic role of IgV H mutational status, as well as chromosomal abnormalities defined by molecular cytogenetic methods. However, besides chromosomal changes with known prognostic impact, such as deletions of 6q, 11q (ATM), 13q, 17p (TP53) detected routinely, the other additional abnormalities can be found. It is presently not clear whether these aberrations have any impact on prognosis and disease progression. To detect abnormalities escaping from routine FISH investigation, we performed array comparative genomic hybridization (arrayCGH) of 50 B-CLL patients diagnosed recently in our center. The aim of this study was supported by the fact, that gains and losses of genetic material can lead either to oncogenic activation of protooncogenes or to loss of tumor-suppressor genes function, within the gained and deleted regions respectively. ArrayCGH revealed copy number changes in 43 out of 50 patients. Except already well known changes as 6q- (7 pts.), 11q- (13 pts.), 13q- (28 pts.), 17p- (5 pts.) and +12 (5 pts.), we detected also other recurrent abnormalities as 2p+ (11 pts.), 8q+ (4 pts.), 14q- (3 pts.), abnormalities of chromosome 18 (9 pts.) and others. Cases with detected 6q- were subjected to 32K tiling path chromosome 6 arrayCGH in order to define the minimal commonly deleted region more precisely. We will present a summary of cytogenetic, FISH and arrayCGH findings in 50 B-CLL patients. This work is supported by grant NR 9484 and MSM 6198959205. P06.185 chromosomal abnormalities in patients with B-cell chronic lymphocytic leukaemia from a single center C. López González, D. Costa, C. Gómez, A. Varela, N. Villamor, D. Colomer, M. Rozman, P. Abrisqueta, E. Montserrat, E. Campo, A. Carrió; Hospital Clinic, Barcelona, Spain. B-Cell chronic lymphocytic leukemia (B-CLL) is the most frequent leukaemia in the Western world. This pathology is characterized by the clonal expansion of morphologically mature small lymphocytes. Convectional cytogenetics shows chromosomal abnormalities in 40- 50% of the cases, whereas FISH can detect about 80% of abnormalities. The most common chromosomal abnormalities by FISH are del 13q14.3 in 50% of the cases, 20% trisomy 12 and less frequently deletions of 11q22-23, 17p13 and 6q21. These alterations are associated with clinical course; 17p13, 11q22-23 and del6q are linked with a shorter survival, followed by trisomy 12 and the normal karyotype and del 13q14.3 is associated with favorable clinical course. From a single center, 171 samples with B-CLL have been analyzed using conventional and molecular cytogenetics. Successful results have been achieved in 90% of the cases by conventional cytogenetics and 94% by FISH. The rate of abnormality detections by conventional cytogenetics was 53% (81/154) and 80% (129/161) by FISH. These rates are in accordance with WHO. The results by molecular cytogenetics were: 58% of the cases showed del 13q14.3, 22% had deletions of 11q22-23 and trisomy 12 and deletion of 17p13 had minor frequency, 17% and 14% respectively. However, 28% (43/154) of the cases had alterations which had not been detected by FISH. The study of CLL by conventional cytogenetics in all the samples will be discussed to detect more abnormalities. This information will be useful for the study of other mechanisms implicated in this pathology and for the obtention of information for prognosis. P06.186 cytogenetic studies among iranian patients with blood cancers M. Khaleghian 1 , C. Azimi 2 , M. Khaleghian 2 , H. Kousari 2 ; 1 Tehran Medical Genetics Laboratory, Islamic Republic of Iran, 2 Department of Genetics, Cancer Institute, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Islamic Republic of Iran. Cytogenetic studies are important diagnostic and prognostic factors in evaluating patients with blood cancers. More than half of all leuke- 0
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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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Page 171 and 172: Cancer genetics P06.005 tiling reso
Page 173 and 174: Cancer genetics tient group in whic
Page 175 and 176: Cancer genetics chronic inflammatio
Page 177 and 178: Cancer genetics licular thyroid can
Page 179 and 180: Cancer genetics also studied. In 31
Page 181 and 182: Cancer genetics tile polyposis. We
Page 183 and 184: Cancer genetics Upon recombinant ex
Page 185 and 186: Cancer genetics variant allele was
Page 187 and 188: Cancer genetics from patients with
Page 189 and 190: Cancer genetics tion (PAX5 and GATA
Page 191 and 192: Cancer genetics scribed underexpres
Page 193 and 194: Cancer genetics of the ZIC gene fam
Page 195 and 196: Cancer genetics Materials and metho
Page 197 and 198: Cancer genetics the past and it is
Page 199 and 200: Cancer genetics P06.130 spectrum an
Page 201 and 202: Cancer genetics P06.139 the role of
Page 203 and 204: Cancer genetics and MSH2 germline m
Page 205 and 206: Cancer genetics P06.155 New roles f
Page 207 and 208: Cancer genetics screening was perfo
Page 209: Cancer genetics val (DFI) than pati
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Page 217 and 218: Cancer cytogenetics mutations in co
Page 219 and 220: Cancer cytogenetics P07.08 molecula
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Complex traits and polygenic disord
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Evolutionary and population genetic
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Genomics, Genomic technology and Ep
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Molecular basis of Mendelian disord
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Metabolic disorders P12.167 Pattern
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Metabolic disorders PKU. BH4 challe
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Metabolic disorders catepe Universi
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Metabolic disorders respectively. G
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Metabolic disorders enzymaticaly co
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Metabolic disorders Normal Affected
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Therapy for genetic disorders in th
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Therapy for genetic disorders P14.0
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Therapy for genetic disorders of me
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Laboratory and quality management P
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Laboratory and quality management T
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Molecular and biochemical basis of
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Genetic analysis, linkage ans assoc
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Author Index Allanson, J.: P02.140
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Author Index 0 Barbacioru, C.: C01.
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Author Index 0 Bonneau, D.: C16.2,
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Author Index 0 Chakravarti, A.: C13
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Author Index 0 Dan, D.: P01.39, P14
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Author Index 0 Duskova, J.: P06.012
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Author Index Franke, A.: P09.056 Fr
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Author Index Grasso, R.: P02.025 Gr
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Author Index Holder-Espinasse, M.:
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Author Index Jurkiewicz, E.: C14.5
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Author Index Kooper, A. J. A.: P05.
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Author Index Li, K. J.: P11.086 Li,
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Author Index Martinet, D.: P03.095
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Author Index Moorman, A. F. M.: P16
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Author Index P10.57, P10.82 Oguzkan
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Author Index P09.054, P09.085, P09.
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Author Index P16.01 Renieri, A.: P0
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Author Index Santorelli, F.: P08.55
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Author Index Sinke, R. J.: P02.020
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Author Index Taheri, M.: P04.33, P0
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Author Index Valentino, P.: P02.064
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Author Index Wiemer-Kruel, A.: P14.
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Keyword Index 1 10q22 deletions: P0
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Keyword Index autosomal dominant re
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Keyword Index CLA: P06.073 CLCN1 ge
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Keyword Index DMD: P16.40, P16.41,
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Keyword Index gene networks: S12.2
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Keyword Index hydrocephaly: P05.11
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Keyword Index malignant hyperthermi
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Keyword Index NAT2: P12.118 natridi
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Keyword Index Polymalformations: P0
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Keyword Index Sardinia: C09.6 Sardi
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Keyword Index TNFalpha: P08.61, P09
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2009 Vienna - European Society of Human Genetics

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