2008 Barcelona - European Society of Human Genetics

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Genetic counselling, education, genetic services, and public policy P09.39 Establishing a cardiogenetic service in southern sweden C. Lundin 1 , P. Platonov 2 , E. Hertervig 2 , B. Ekmehag 2 , O. Kongstad 2 , U. Kristoffersson 1 ; 1 Dept of Clinical Genetics, Lund, Sweden, 2 Dept of Cardiology, Lund, Sweden. The genetic causes of several familial cardiac arrhythmias have been established in recent years, and thus the request for molecular genetic analyses as well as genetic counselling for these families has emerged . The multidisciplinary cardiogenetic service in the South Swedish Health Care region was initiated in 2005, and the network now comprises cardiologists, pediatric cardiologists, clinical geneticists, and specialists in pathology and forensic medicine, respectively . Much effort is concentrated towards education of the stakeholders and on drawing up guidelines, whereby more uniform information and clinical management of at-risk family members is possible . So far, two guidelines have been completed, i . e ., regarding families with an increased risk of hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS), respectively . We have adopted the model developed for our cancer genetic service, i .e ., most families are seen by a clinical geneticist together with a cardiologist . This gives the possibility of discussing most aspects of the disease, although no clinical examination or investigation is performed . Until December 2007, 28 families have been counselled in the cardiogenetic clinic, the majority having familial HCM (15 families) . 3 families had LQTS, and the rest had various diagnoses . All HCM-patients with a positive DNA analysis have had various mutations in MYBPC3 . In LQTS, only families with a known mutation have, so far, been referred to the cardiogenetic clinic . The request for genetic counselling in hereditary cardiovascular diseases is increasing, and establishing multidisciplinary networks in this field in our health care region is essential for high quality care and cost-effectiveness . P09.40 should preconception genetic testing of infertile couples be any less rigorous than for gamete and embryo donors? A case report C. Bancroft1,2 , T. El-Menabawey1 , M. Menabawey1 , A. H. Handyside1,2 , A. R. Thornhill1,2 ; 1London Bridge Fertility, Gynaecology and Genetics Centre, London, United Kingdom, 2Bridge Genoma, London, United Kingdom. A 36 year-old man presenting with primary male infertility (oligozoospermia) underwent in-vitro fertilisation treatment with intracytoplasmic sperm injection and transfer of two embryos resulting in healthy twins . The couple had surplus embryos cryopreserved, which they subsequently elected to donate to our embryo donation programme . To comply with Human Fertilisation and Embryology Authority (HFEA) Code of Practice for UK gamete and embryo donors, both partners underwent appropriate genetic screening tests, including karyotyping, which wasn’t considered necessary when the couple were first evaluated at their local hospital . The man carried a 13;14 balanced Robertsonian translocation and was referred for genetic counselling . Structural chromosome abnormalities cause infertility in both men and women, and many fertility centres have experienced similar cases . Owing to the increased incidence of balanced translocations among infertile people compared with the general population it is prudent to routinely offer preconception genetic counselling and karyotype analysis to couples with infertility . Such measures may improve (i) infertility diagnosis, (ii) follow-up treatment, (iii) risk assessment for future children and (iv) pregnancy management . Furthermore, appropriate genetic testing and evaluation may reduce numbers of failed IVF cycles, saving patients financial, physical and emotional costs. Current UK regulations require rigorous screening (including karyotyping) for gamete and embryo donors . However, routine karyotyping of couples with infertility is not UK standard practice and, this represents an inequality in patient care . Routine karyotyping should be offered to all couples presenting with infertility allowing them to make informed choices before undertaking the large investment required for assisted reproduction . P09.41 Analysis of machado-Joseph Disease Pedigrees: Risk Assessment and Patterns of segregation in Azorean Families C. Bettencourt 1 , C. Santos 2 , T. Kay 3 , J. Vasconcelos 4 , M. Lima 1 ; 1 University of the Azores, Ponta Delgada - Azores, Portugal, 2 Autonomous University of Barcelona, Bellaterra (Barcelona), Spain, 3 Hospital of D. Estefania, Lisbon, Portugal, 4 Hospital of Divino Espirito Santo, Ponta Delgada - Azores, Portugal. Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of late onset (mean 40 .5 yrs), whose causative mutation is a CAG expansion in the ATXN3 gene, at 14q32 .1 . MJD presents clinical heterogeneity, with differences in onset between series of patients being reported . Since in MJD risk assessment is complicated by age dependent penetrance, these differences will have an impact in risk calculation for at-risk individuals who choose not to take the genetic test . In the Azores 32 extended MJD families were identified; in Flores Island the disease reaches the highest worldwide value of prevalence (1:103) . Segregation ratio distortion (SRD) could be one of the factors behind high values of prevalence . The availability of an extended genealogical database for the affected Azorean families, associated to the thorough follow-up of patients provided the background to conduct a study aiming: a) to provide age dependent risk data, with impact on Genetic Counselling (GC); b) to analyse segregation patterns of normal and expanded ATXN3 alleles . For risk assessment, the probability of gene expression, using onset data from 176 Azorean patients, was calculated; a Bayesian method to compute the probability of heterozygosity if asymptomatic at different ages was applied . Sixtytwo sibships were selected for segregation analysis (330 meioses) . This analysis produced mendelian ratios, not supporting the presence of SRD for expanded alleles . Globally, results obtained will allow a higher accuracy of risk assessment, an essential component of GC, which is critical for the decision making of at risk individuals, namely for reproductive choices . P09.42 science and technology in the muslim World: the challenges A. I. Al-Aqeel; Riyadh Military Hospital/ King Faisal Specialist Hospital, Riyadh, Saudi Arabia. Muslim nations must take a big leap forward in developing science and technology to catch up with the rest of the world. But to flourish, science and technology need a cultural base that can only be acquired by science education, with an ethical background, and by undertaking research programmes . This effort requires that the mentality of political leaders must change to show more of a commitment to science between the 57 Islamic countries . Saudi Arabia, Qatar and Kuwait spend about 0 .2% of their gross domestic product (GDP) on science - less than one-tenth of the developed country average of 2 .3% . The Emir of Qatar has created an endowment that generates millions of dollars in research funding every year . Saudi Arabia is making a slow start, having approved a new national science and technology development plan in 2002 . Both Saudi Arabia and Kuwait are each investing around $2 billion in higher education institutes that include research centers . Inherited Genetic diseases are prevalent in the Muslim World . We will address the preventive health aspects of genetic problems in the Muslim world and provide guidelines to prioritize preventive strategies . Applications of various novel genetic techniques such as comprehensive neonatal screening, high throughput heterozygote detection, and pre implantation genetic diagnosis are discussed. in conclusion; from the various genetic techniques available, each country should adopt strategies most suitable to its genetic needs and should prioritize the programs to be used in prevention, in the presence of the challenges of having resources and expertise, among others . P09.43 Bases for genetic counselling in melanoma: benefits of specific surveillance programme S. Puig 1,2 , J. Puig Butille 1,2 , F. Cuellar 1 , S. Kroemer 1 , C. Badenas 1,2 , C. Carrera 1 , P. Aguilera 1 , M. González 1 , P. Iglesias 1 , D. Gabriel 1 , M. Mila 1,2 , J. Malvehy 1,2 ; 1 IDIBAPS/HOSPITAL CLINIC, Barcelona, Spain, 2 Centro Investigación Biomédica en Enfermedades Raras (CIBERER), ISCIII., Barcelona, Spain. Introduction: CDKN2A and CDK4 are two major susceptibility genes for melanoma (MM) . Other genes involved in melanoma susceptibility
Genetic counselling, education, genetic services, and public policy are MC1R and c9orf14 . Objectives: To describe the prevalence of germ line mutations in CD- KN2A and CDK4 in familial melanoma; to evaluate the modifying effect of MC1R polymorphism and c9orf14 variants; to describe a specific surveillance programme . Subjects: 70 families with at least 2 cases of melanoma (1 of 8; 17 of 3 and 49 of 2) were included . Methods: Exon 1alfa, 1beta, 2, 3 and IVS2-105, -34G>T at the CD- KN2A promoter region and EXON 2 from CDK4 were studied by PCR- SSCP analysis and sequencing; MC1R was studied by sequencing and c9orf14 variants by SSCP analyses . Results: CDKN2A mutations were detected in 24% of families being more frequent in families with multiple cases (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 analysis, linkage, and asso
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Normal variation, population geneti
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Page 471 and 472: Author Index Al-Owain, M.: P06.160
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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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