2008 Barcelona - European Society of Human Genetics

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Cancer genetics 36 in the normal population . The lenght of the CAG repeats is inversly related to the transactivation function of the AR gene . There is controversy over an association between short CAG repeat numbers in the AR gene and prostate cancer . The aim of this study was to evaluate the possible effect of short CAG repeats in the AR on prostate cancer risk in Macedonian males . We studied 66 PC patients, 46 patients with benign prostatic hyperplasia (BPH), 104 male patients with colon cancer (CC) and 152 males from the general population . The CAG repeat number was determined by fluorescent PCR amplification of exon 1 of AR gene followed by capillary electrophoresis on ABI PRISM 310 Genetic Analyzer . The mean CAG repeat lenght among PC patients was significantly lower (21.4+2 .6) in comparison to the BPH patients (22 .7+2 .2; p=0 .007), CC patients (22 .6+3 .1; p=0 .008) and males from general population (22 .3+2.8; p=0.029). We found a significantly higher percentage of short CAG repeats (
Cancer genetics there are no changes in the amount of mtDNA . We have also observed a significance decrease in the expression of mitochondria-encoded genes MT-12S, MT-CO2 and MT-ATP6 . Supported by MEC (SAF 2005-00166), and Generalitat de Catalunya (2006 SGR 00018) P04.188 Identification of novel molecular targets for arresting prostate cancer cell proliferation. S. F. Gaudi1 , F. Carlini1 , D. De Orsi1 , S. Paradisi1 , G. Bozzuto1 , L. Toccacieli1 , G. Formisano1 , A. Weisz2 , R. Arcieri1 , S. Vella1 ; 1 2 Istituto Superiore di Sanità, Roma, Italy, Seconda Università degli Studi di Napoli, Naple, Italy. Retroelements (RE) represent a significant portion of the human genome (45 %) and play a key role in the regulation of gene expression in mammals . RE can act as insertional mutagens altering the coding integrity of genes and, particularly the gene coding for reverse transcriptase (RT) is tipically expressed at high level in transformed cells and tumor . A large body of published data supports the conclusion that retrotransposons are biologically active elements and indicates that retrotransposition is an ongoing process in mammalian genomes and can trigger the onset of several pathologies including cancer . Active LINE-1 transcripts have been detected in murine embryonal carcinoma cells and in human testicular cancers, while only basal levels of RT activity have been revealed in terminally differentiated cells and tissues . Studies developed in our research groups over the last years have shown that the commercially available RT inhibitor, Abacavir, widely used in AIDS therapy, is able to modulate cell growth and differentiation in prostate cancer cell line (PC3) . ABC, respectively at 10 and 100 μg/ml, is able to reduce proliferation, migration and invasion. We studied genome wide expression profile on PC3 cells treated with ABC and we identified genes involved in RNA regulation and expression. Further immuno-fluorescence experiments revealed a critical involvement of nucleolus as target of ABC action . Finally, we discuss new approaches to treatment, including recently discovered molecular targets that might provide more effective treatment strategies with the potential for less toxicity . P04.189 PtcH1 gene polymorphisms and risk of non melanoma skin cancer after organ transplantation A. Begnini 1 , G. Tessari 2 , M. Gomez Lira 1 , L. Naldi 2 , G. Remuzzi 2 , L. Boschiero 2 , A. Forni 2 , C. Rugiu 2 , S. Piaserico 2 , G. Girolomoni 2 , A. Turco 1 ; 1 Section of Biology and Genetics, Department of Mother and Child and Biology–Genetics, University of Verona, Verona, Italy, 2 Section of Dermatology, Department of Biomedical and Surgical Science, University of Verona, Verona, Italy. Organ transplant recipients (OTR) are at higher risk of non melanoma skin cancer (NMSC), particularly basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) . Risk factors for NMSC in OTR include skin type, ultraviolet light exposure, immunosuppression, human Papilloma virus infections, and genetic susceptibility . PTCH1 is a negative regulator of the Hedgehog pathway, that provide mitogenic signals to basal cells in skin . PTCH1 gene mutations are responsible for nevoid basal cell carcinoma syndrome (NBCCS or Gorlin syndrome), and also occur in sporadic forms of BCC . Associations have been demonstrated between PTCH1 polymorphisms and BCC susceptibility in non transplanted recipients . This study was designed to investigate if known polymorphisms of PTCH1 gene contribute, individually or as haplotypes, to NMSC risk after transplantation, and to identify novel genetic polymorphism in the proximal 5’ regulatory region of the gene . We analyzed the frequencies of three PTCH1 gene SNPs (rs2297086, rs2066836, rs357564) in 273 Northern Italian OTR patients (120 cases and 153 controls) . Single locus and haplotype frequency analysis showed no significant associations . Screening for polymorphisms was performed by heteroduplex analysis in 30 cases and 30 matched controls . Two polymorphisms, -198A>G and -195G>C, were identified in the 5’ flanking region. Both variants were in linkage disequilibrium and showed a frequency of 0 .5% (2/400) in 200 tested individuals . These results seem to exclude an important role of the PTCH1 gene in NMSC susceptibility after organ transplantation . Further studies on a larger sample are warranted to confirm these findings. P04.190 molecular genetic and clinical survey of swiss PtEN hamartoma tumor syndrome patients M. Plasilova 1 , N. Boesch 1 , C. Egenter 1 , B. Röthlisberger 2 , H. Mueller 1 , K. Heinimann 1 ; 1 Research Group Human Genetics, Division of Medical Genetics UKBB, Center of Biomedicine, University Children’s Hospital, Basel, Switzerland, 2 Center of Laboratory Medicine, Cantonal Hospital Aarau, Aarau, Switzerland. PTEN hamartoma tumor syndrome (PHTS) is a condition caused by germline mutations in the PTEN (phosphatase with tensin homology) tumor suppressor gene which encodes a phosphatase with lipid and protein specificity, a negative regulator of the phosphoinositol 3-kinase (PI3K) pathway . PHTS includes Cowden syndrome (CS), Bannayan- Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome, the first two being the most prevalent conditions. Here we present the results of a molecular genetic and clinical survey on 12 Swiss PHTS patients (10 CS, 2 BRRS) and their relatives referred during the past 4 years . All patients were subjected to DNA sequencing of the coding (incl .exon/intron boundaries) and the promoter region, and to gene dosage analysis . In the coding region of PTEN, heterozygous germline mutations were identified in five CS patients and one BRRS patient . The majority of the PTEN mutations were found to be either nonsense point mutations or frameshift deletions . In addition, one heterozygous splice site mutation and one missense mutation were observed. Based on these findings, the mutational spectrum and clinical manifestations in both, PTEN mutation carriers and those without detectable genetic alterations will be presented . In particular, the clinical overlap between CS and BRRS PTEN mutation carriers will be discussed . P04.191 Evaluation of exon 2 and exon 6 mutaions of PtEN gene in patients with gastric cancer A. Kalaycı 1 , T. Cora 2 , H. Toy 3 , H. Acar 4 , E. Kurar 5 ; 1 Dept. of Arkeology, S.Univ, Science Fakulty, Konya, Turkey, 2 Dept. of Medical Genetics, Selcuk Univ. Medical Faculty, Konya, Turkey, 3 Dept. of Pathology, S.Ü. Medical Faculty, Konya, Turkey, 4 Dept. of Medical Genetics, S.University, Medical Faculty, Konya, Turkey, 5 Dept. of Zootekni, S.Univ, Veterinary Fakulty, Konya, Turkey. Gastric cancer (GC) is still one of the most frequent causes of cancerrelated deaths in all overworld . Molecular mechanism of GC has not been well described . In recent years, the pathogenesis of GC related to the basis of the molecular and genetic changes have been investigated in the different populations. These changes can be classified as activation of oncogenes, the inactivation of tumor suppressor genes, the reduction of cellular adhesion, the reactivation of telomerase and the presence of microsatellite instability . A novel tumor supressor gene, PTEN (phosphatase and tensin homologue deleted on chromosome ten), has recently been described and mapped to chromosome band 10q23 .3 region . In the present study, we evaluated the frequency of exon 2 and exon 6 mutaions of PTEN gene in the normal (n=47) and tumor tissues (n=47) of the patients with GC, by using SSCP and sequencing techniques . The frequency of mutations in exon 2 and exon 6 of the PTEN gene in tumor and normal tissue DNAs were compared and the results were compared with the other results published for the other population in the literature . P04.192 High throughput, nanofluidic real-time PCR analysis of gene expression in tumor samples E. Ortenberg, S. Liu-Cordero, J. Hurley, T. Morrison, J. Cho, M. Kopczynski, C. Brennan, K. D. Munnelly; BioTrove, Inc., Woburn, MA, United States. Understanding biological complexity arising from patterns of gene expression and gene function requires accurate and precise measurement of RNA levels across large numbers of genes simultaneously . We demonstrate a novel highly parallel, nanofluidic system capable of performing 3072 real-time polymerase chain reactions (rt-PCR), based on Sybr Green detection, in a miniaturized through-hole array format .
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Volume 16 Supplement 2 May 2008 www
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Committees - Board - Organisation E
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Plenary Lectures ESHG PLENARY LECTU
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Plenary Lectures 6 Medical Genetics
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Concurrent Symposia ESHG CONCURRENT
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Concurrent Symposia s04.1 microRNA
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Concurrent Symposia 0 use of positi
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Concurrent Symposia s10.2 Non-invas
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Concurrent Symposia s13.1 Dysregula
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Concurrent Sessions ESHG CONCURRENT
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Concurrent Sessions receptor than t
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Concurrent Sessions an autosomal re
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Concurrent Sessions reporting, and
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Concurrent Sessions c06.3 clinical
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Concurrent Sessions c07.5 VLDLR (ve
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Concurrent Sessions 317,503 single
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Concurrent Sessions MYCN , E2F3 and
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Concurrent Sessions limb or thoraci
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Concurrent Sessions APC, BRCA1 and
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Concurrent Sessions identified 215
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Clinical genetics ESHG POSTERS P01.
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Clinical genetics In Cyprus, the mu
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Clinical genetics gene . Most of th
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Clinical genetics are indeed more d
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Clinical genetics P01.037 Validatin
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Clinical genetics 17 PKU patients f
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Clinical genetics L185R missense mu
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Clinical genetics P01.064 isolation
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Clinical genetics leles- is in acco
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Clinical genetics Sapienza” Unive
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Clinical genetics P01.090 Fragile X
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Clinical genetics P01.099 Deletion
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Clinical genetics other CNPs, the 1
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Clinical genetics FRAXA is the most
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Clinical genetics and PT 19 cm. Nec
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Clinical genetics P01.133 White mat
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Clinical genetics curved radii, uln
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Clinical genetics ered at the 33 rd
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Clinical genetics P01.160 character
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Clinical genetics P01.169 A variant
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Clinical genetics matological anoma
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Clinical genetics sition was identi
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Clinical genetics women ranges by p
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Clinical genetics MD2I or MDC1C sho
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Clinical genetics P01.215 the ctG r
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Clinical genetics pansion . Longer
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Clinical genetics frequency of this
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Clinical genetics mana, CUCS, Unive
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Clinical genetics P01.253 The first
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Clinical genetics consistent findin
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Clinical genetics P01.270 Genetic s
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Clinical genetics P01.279 Dilated c
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Clinical genetics objectives of our
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Clinical genetics P01.298 Hyperphos
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Clinical genetics P01.307 maternal
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Clinical genetics CM in monozygotic
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Clinical genetics P01.325 mowat-Wil
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Clinical genetics P01.334 Identific
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Clinical genetics birth defects is
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Clinical genetics The cause of this
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Clinical genetics were assumed to b
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Cytogenetics P01.369 three novel mu
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Cytogenetics P02.008 Reconfirmation
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Cytogenetics mosomal rearrangement
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Cytogenetics otide-based array plat
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Cytogenetics rangements ranged betw
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Cytogenetics 593 kb microdeletion a
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Cytogenetics We herewith report two
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Cytogenetics cise etiological diagn
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Cytogenetics deleted region contain
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Cytogenetics P02.078 mental Retarda
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Cytogenetics present on the right s
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Cytogenetics P02.096 Delineation of
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Cytogenetics P02.106 Aneuploidy of
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Cytogenetics biologic (cytogenetic)
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Cytogenetics - 60 .0) per 100 cells
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Cytogenetics netic map of deleted r
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Cytogenetics phic at delivery . Min
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Cytogenetics (according to question
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Cytogenetics P02.160 characterizati
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Cytogenetics DISCUSSION: In this st
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Cytogenetics from peripheral blood
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Cytogenetics did not influence upon
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Cytogenetics sented with ambiguous
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Cytogenetics normalities, cytogenet
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Cytogenetics P02.215 cytogenetic an
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Cytogenetics matozoa from carriers
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Cytogenetics of spermatogenesis in
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Prenental diagnostics Genotype Infe
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Prenental diagnostics T21 samples s
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Prenental diagnostics be withdrawn
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Prenental diagnostics The Consortiu
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Molecular and biochemical basis of
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Genetic analysis, linkage, and asso
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Therapy for genetic disease 0 proce
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Therapy for genetic disease The die
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Therapy for genetic disease Science
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Therapy for genetic disease P10.26
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EMPAG Plenary Lectures and perceive
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EMPAG Plenary Lectures 0 mutation i
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EMPAG Plenary Lectures EPL5.2 the m
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EMPAG Workshops Methods The matrix
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EMPAG Posters ties raised by IBMPFD
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EMPAG Posters ics, Nicosia, Cyprus,
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EMPAG Posters most patients’ psyc
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EMPAG Posters patient (35% vs . 26%
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Author Index Al-Owain, M.: P06.160
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Author Index 0 Baka, M.: P04.082 Ba
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Author Index Berwouts, S.: P09.20,
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Author Index P07.117 Buil, A.: P06.
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Author Index Cho, J.: P04.192, P08.
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Author Index Damy, T.: P01.057 Damy
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Author Index 0 Dror, A.: P05.074 Dr
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Author Index Fernandez-Real, J.: P0
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Author Index P06.310 Gavriliuc, A.
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Author Index Grinberg, Y. I.: P01.0
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Author Index Hood, L.: PL4.1 Hoogeb
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Author Index 0 P02.240, P09.63 Kala
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Author Index Kongstad, O.: P09.39 K
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Author Index Lee, C.: C13.3 Lee, D.
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Author Index Mahjoubi, F.: P02.045,
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Author Index P04.196 Meindl, A.: c0
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Author Index 00 Mottaghi, L.: P01.0
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Author Index 0 Oh, T. Y.: P01.084 O
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Author Index 0 Peñaloza, R.: P05.2
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Author Index 0 Proverbio, M.: P05.0
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Author Index 0 Rogers, M.: EP14.18
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Author Index 0 Scarcella, M.: P05.0
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Author Index P06.179 Sobrino, B.: P
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Author Index Taschner, P. E. M.: P0
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Author Index Urreizti, R.: P01.050,
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Author Index Voegele, C.: P04.121 V
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Author Index 0 P04.095, P04.106 Zem
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Keyword Index AMACR gene: P04.182 a
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Keyword Index cardiac: S04.1 Cardio
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Keyword Index Crohn: P07.022 Crohn
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Keyword Index evolution: P02.112, P
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Keyword Index 0 haemoglobinopathies
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Keyword Index KCNJ11: P05.026 KCNQ1
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Keyword Index MLH1: P04.010, P04.02
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Keyword Index osteochondrodysplasia
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Keyword Index PXE-like syndrome: P0
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Keyword Index 0 sperm: P02.205 sper
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Keyword Index venous thrombosis: P0
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2008 Barcelona - European Society of Human Genetics

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