2008 Barcelona - European Society of Human Genetics

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Molecular and biochemical basis of disease P06.057 clinical and immunohistochemical pre-screening and RNA sequencing increase mutation detection rate for the collagen Vi genes T. P. Cullup 1 , C. Jimenez-Mallebrera 2 , L. Feng 2 , S. Robb 2 , F. Muntoni 2 , S. Yau 1 , S. Abbs 1 ; 1 DNA Laboratory, Guy’s & St. Thomas’ NHS Foundation Trust, London, United Kingdom, 2 Neuromuscular Unit, Hammersmith Hospital, London, United Kingdom. Ullrich Congenital Muscular Dystrophy (UCMD) and the milder Bethlem Myopathy (BM) are caused by mutations in COL6A1, COL6A2 and COL6A3 which collectively are comprised of 106 coding exons . Neither phenotypic nor immunohistochemical analyses are able to pinpoint which of these genes to target for mutation screening . We have established a diagnostic mutation screening service for these three genes based on sequencing cDNA derived from fibroblast cultures . This requires only 26 overlapping cDNA fragments, compared with over 100 fragments needed to cover the genes using genomic sequencing . Mutations have been detected in 14 out of an initial cohort of 16 patients; this 87 .5% detection rate compares favourably with the 62% detection reported in Lampe et al . This higher rate of detection can be partly attributed to the sequential use of clinical and immunohistochemical screening prior to molecular analysis and partly to the RNAbased approach . In particular a change ten bases from the start of the exon in COL6A2 (c .1117-10A>G) is likely to be responsible for the splicing out of exon 13 in one patient, and in a second patient an absence of exon 10 at the cDNA level of the same gene has as yet no confirmed mechanism at the DNA level. Surprisingly eight patients with a UCMD phenotype, previously thought of as a recessively-inherited form, have a single mutation; this reinforces current thinking that the two disorders represent either end of a phenotypic spectrum . Lampe, A . K . et al; J Med Genet 2005;42:108-120 P06.058 A computational test for biological relatedness in genetic association studies using probabilistically inferred haplotypes L. Xumerle, G. Malerba, P. F. Pignatti; Department Maternal Infantile and of Biology-Genetics. Section of Biology and Genetics, University of Verona, Italy. An association between gene and disease may be incorrectly estimated if the allele frequencies differ among cases and controls depending on inbreeding or unrecognized population stratification. A program (http://medgen .univr .it/jenoware/) was developed to compute the probability of genetic relatedness in pairs of individuals using a likelihood ratio test . Using loci that are in LD decreases the accuracy of parentage assignments . Groups of SNPs in linkage disequilibrium (LD) were simulated to verify the effects of linkage on relatedness assignment . The probability of genetic relatedness was computed using the single SNPs and treating the SNPs as composite markers with different r² threshold values . Haplotypes were probabilistically inferred using the PHASE and Gerbil programs . False positive rate and power were assessed by simulation in unrelated individuals and in pedigrees . As an example of results, in order to estimate the support for II degree relatedness with power 80%, and false positive rate 5%, the following was needed: 100 SNPs with no linkage; 275 SNPs having r²=0 .4; 20 probabilistically inferred haplotypes (100 SNPs having r²=0 .4); 40 probabilistically inferred haplotypes (200 SNPs having r²=0 .8) . In conclusion, if LD blocks are examined, the biological relatedness can be computed with a limited number of markers increasing test accuracy with probabilistically inferred haplotypes . P06.059 A new gene for X-linked congenital Ataxia maps to Xq25-q27.1 G. Zanni 1,2 , E. Bertini 2 , C. Bellcross 3 , B. Nedelec 1 , G. Froyen 4 , G. Neuhäuser 5 , J. M.Opitz 6 , J. Chelly 1 ; 1 Université Paris Descartes, Institut Cochin, Departement Génétique et Développement, Paris, France, 2 Ospedale Pediatrico Bambin Gesù, Unit of Molecular Medicine, Rome, Italy, 3 Dean Medical Center, Department of Perinatology, Madison, WI, United States, 4 Human Genome Laboratory, Department of Human Genetics, Catholic University Leuven, Leuven, Belgium, 5 Department of Pediatrics, Justus Liebig Universität, Giessen, Germany, 6 Department of Pediatrics, Medical Genetics, Human Genetics, Pathology, Obstetrics and Gynaecology, University of Utah, Salt Lake City, UT, United States. We observed a large American family of Norwegian descent with Xlinked nonprogressive congenital ataxia (XCA) and normal cognitive development in six affected males over three generations . Neuroimaging showed global cerebellar atrophy without evidence of supratentorial anomalies . Linkage analysis resulted in a maximum LOD score Z=3.44 for marker DXS1192 at θ =0.0 with flanking markers DXS1047 and DXS1227 defining a region of 12cM in Xq25-q27.1. The clinical and neuroradiological findings in the present family are very similar to those described in two other reported X-linked families however, the newly identified locus does not overlap with the one defined previously in Xp11 .21-Xq24, indicating that there are at least two genes responsible for this rare form of X-linked congenital cerebellar ataxia with normal intelligence . P06.060 Autosomal dominant left atrial isomerism with suggestive linkage to chromosome 9q K. van Engelen, J. B. A. van de Meerakker, J. Lam, R. H. Lekanne dit Deprez, I. B. Mathijssen, M. J. H. Baars, B. J. M. Mulder, A. F. Moorman, A. V. Postma; Academic Medical Centre, Amsterdam, The Netherlands. Background Left isomerism is a laterality disorder, characterized by bilateral left sidedness including cardiovascular malformations, bilateral bilobed lungs and polysplenia . Autosomal dominant laterality disorders are infrequent and have only been reported in a few families . In this study, we analyzed a large three generation family with cardiac left isomerism . Methods and results We obtained phenotypic information, including physical examination, electrocardiography, echocardiography and blood samples of 22 family members . Thirteen individuals had a cardiac anomaly, with considerable variation between patients . Cardiac anomalies considered to be part of the left isomerism spectrum were, among others, bilateral left atrial appendages, septal defects, persistent left superior caval vein and specific electrocardiographic disturbances compatible with absence of the sinoatrial node . Other heart defects were present as well . The condition was inherited in an autosomal dominant pattern . Subsequent genome wide linkage analysis demonstrated linkage to a single locus on chromosome 9q shared by all affected individuals, with a multipoint maximum LOD score of 2 .20 at marker D9S283 . The shared locus was delineated by markers D9S167 and D9S1677, was 26 Mb in size and contained 218 genes . Sequence analysis of three candidate genes in this region (Inversin, TGFBR1 and IPPK) revealed no mutations . Conclusions The mapping of a suggestive locus for this autosomal dominant laterality disorder on chromosome 9q represents an important step toward the discovery of genes implied in laterality disorders . Further sequencing and investigation of genomic duplications/deletions of candidate genes will be the next steps in the identification of the susceptibility gene . P06.061 implication of HOXB9 and cOL1A1 genes in congenital hip dislocation : a case-control association study in Brittany (Western-France) K. Rouault 1,2 , V. Scotet 1 , S. Autret 3 , F. Dubrana 4 , B. Fenoll 5 , F. Gaucher 6 , D. Tanguy 7 , C. Yaacoub 8 , C. Ferec 1,2 ; 1 INSERM U613, BREST, France, 2 Laboratoire de Génétique moléculaire, CHU Morvan, Brest, France, 3 Université de Bretagne Occidentale, BREST, France, 4 Department of orthopedic surgery, CHU La Cavale Blanche, BREST, France, 5 Department of pediatric surgery, CHU Morvan, BREST, France, 6 Department of orthopedic surgery, Hotel Dieu, Pont l’abbe, France, 7 Department of physical medicine, Centre de Perharidy, ROSCOFF, France, 8 Department of orthopedic surgery, CH Cornouaille, QUIMPER, France. Congenital dislocation of the hip (CDH) is a complex disease which presents a mechanical component due to the pregnancy and delivery conditions and a genetic component linked to the ethnical predispositions and the familial aggregation . A case-control association study was set up in the area of Finistère (western Brittany, France) where CDH is frequent in order to study the implication of two candidate genes, 0
Molecular and biochemical basis of disease HOXB9 involved in the embryonic development of members and CO- L1A1 implied in the constitution of cartilaginous tissue . TagSNPs were selected using Haploview and Tagger softwares (r²=0 .8, MAF=0 .05) and genotyped using SNaPshot method (HOXB9: n=3 and COL1A1: n=12) . All SNPs were in Hardy-Weinberg equilibrium . Associations were tested using logistic regression analysis . Our cohort included 239 CDH patients and controls and CDH affected 91 .2% of women and was bilateral in 60.8% of cases. Breech presentation was significantly associated with CDH (OR=10 .10 [2 .96-34 .46], p
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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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Prenental diagnostics Here we descr
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Prenental diagnostics service deliv
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Prenental diagnostics cal Universit
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Prenental diagnostics nuchal transl
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Prenental diagnostics etal anomalie
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Cancer genetics forms . The typical
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Cancer genetics P04.012 A novel PtE
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Cancer genetics P04.021 comparative
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Cancer genetics P04.029 characteris
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Cancer genetics mutations detected
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Cancer genetics deleterious mutatio
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Cancer genetics Research Centre, Mo
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Cancer genetics P04.064 Dissection
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Cancer genetics P04.072 Acute promy
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Cancer genetics P04.081 Discordance
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Cancer genetics ity of the malignan
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Cancer genetics Method: mRNA level
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Cancer genetics preparations were o
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Cancer genetics ries.The identifica
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Cancer genetics P04.127 FGFR3 mutat
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Cancer genetics Our experience show
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Cancer genetics way consists of thr
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Cancer genetics and/or prognostic m
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Cancer genetics P04.162 HER-2/neu A
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Cancer genetics controls, by hetero
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Cancer genetics P04.179 molecular g
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Cancer genetics there are no change
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Cancer genetics P04.197 mutation in
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Molecular and biochemical basis of
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Genetic counselling, education, gen
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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 their own home . It e
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EMPAG Posters with resultant specia
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EMPAG Posters 0 the family, relativ
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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 In collaboration with
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EMPAG Posters most patients’ psyc
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EMPAG Posters 0 EP13.2 Decision mak
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EMPAG Posters Objective . GeneBanC
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EMPAG Posters EP14.12 the role of t
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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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