2009 Vienna - European Society of Human Genetics

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Molecular basis of Mendelian disorders gene, encoding spastin. SPG4-HSP and generally described as a pure form of the disease_that is, as spastic paraparesis often associated with a decreased sense of vibration in the lower limbs and urinary problems. However, it is characterized by a large variability in the age at onset (ranging from early infancy up to the eighth decade). Patients usually have a family history of the disease but some may also present as sporadic cases due to incomplete penetrance or censor effects. In the latter, non-genetic causes of spastic paraparesis, such as primary progressive multiple sclerosis, (PPMS) are usually searched for.. We report 3 patients with a primary diagnosis of PPMS, based on MRI findings, who carried a SPG4 mutation. Interestingly, 2 out of the 3 patients had a family history of gait disorder or clinical diagnosis of MS and in one, the father died at age 60 (censor effect). The remaining patient fulfilled Mc Donald’s criteria (MRI and CSF) for MS. Those findings must lead to important caution with PPMS diagnosis not to understimate genetic spastic paraplegia because of consequences for appropriate genetic counselling. Those results could also modify our understanding of the mechanisms of demyelinating diseases and of the interactions between axonal degeneration and inflammation. P12.155 molecular analysis of spinal muscular atrophy in iranian population S. Vallian, N. Noori; The University of Isfahan, Isfahan, Islamic Republic of Iran. Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder of motor neurons. Defects in genes for survival motor neuron (SMN) and neural apoptosis inhibitory protein (NAIP) have been shown to be associated with the disease. Among the genetic defects, deletions in exon 7 and 8 of SMN as well as exons 4 and 5 of NAIP gene were found to be most significant. In this study, deletions in SMN and NAIP genes were examined in 35 unrelated SMA patients (14 type I, 5 type II, 16 type III) patients. Deletion frequency in SMN (E7 and 8) and NAIP (E4 and 5) in patients with SMA type I was 92.8%,42.8%,64.3%,78.6%; in type II, 60%,20%,80%,80%; and in type III, 16.6%,6.25%,43.7%,43.7%, respectively. About 7.1% of patients with SMA type I; 20% with type II and 56.2% with type III showed no deletions for the exons examined. Moreover, homozygous deletion in E7 and/or 8 of the SMN gene was found in 62.5% of the patients, with high frequency in both type I (78.5%) and type II (80%), and less frequency (48.5%) in type III. Similarly, homozygous deletions of E4 and/or E5 of NAIP gene was highest in type I (92.9%) compare to type II (60%) and type III (6%). Our data suggest a strong association of deletions in E4 and E5 of NAIP together with deletions in SMN (E7 and 8) with more severe form of SMA (SMA type I and II) in Iranian population. P12.156 Estimation of smN2 copy number in 536 unrelated spanish smA patients by Multiplex-Ligation dependent Probe Amplification (mLPA) S. Bernal 1,2 , L. Alías 1,2 , M. J. Barceló 1,2 , E. Also-Rallo 1,2 , R. Martínez-Hernández 1,2 , F. J. Rodríguez-Alvarez 3,4 , E. Aller 5,6 , E. Grau 5,6 , A. Peciña 7,8 , L. Ortiz 7,8 , M. J. Rodríguez 1,2 , P. Gallano 1,2 , S. Borrego 7,8 , J. M. Millán 5,6 , C. Hernández- Chico 3,4 , E. F. Tizzano 1,2 ; 1 Servicio de genética. Hospital de la Santa Creu i Sant Pau, Barcelona, Spain, 2 CIBERER, Barcelona, Spain, 3 Unidad de genética. Hospital Ramón y Cajal, Madrid, Spain, 4 CIBERER, Madrid, Spain, 5 Unidad de genética. Hospital La Fe, Valencia, Spain, 6 CIBERER, Valencia, Spain, 7 Unidad de gestión clínica de genética, reproducción y medicina fetal. Hospital Virgen del Rocío, Sevilla, Spain, 8 CIBERER, Sevilla, Spain. Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by absence or mutations in the SMN1 gene. SMA patients are classified into 3 groups, type I (the most severe), type II (the intermediate form) and type III (the less affected) according to age of onset, achieved motor abilities, and life span. SMN2 is the SMN1 highly homologous copy that is considered as a modifier of the disease. We estimated the SMN2 copy number in 536 unrelated SMA patients from different Spanish centres. We employed the Multiplex-Ligation dependent Probe Amplification (MLPA) technique, which includes a mixture of specific probes for the SMA locus. The majority of the type I patients showed two copies of the SMN2 gene (209/261,80%), type II patients presented mainly 3 SMN2 copies (126/150, 84%), whereas 91% (114/125) of type III patients have 3 (67%) or 4 (24%) SMN2 copies. These results confirm that SMN2 copies are strongly related to disease severity. However, the correlation is not absolute (i.e. 36 type I patients showed three SMN2 copies and 9 type III patients had two copies). This study performed in a large cohort of subjects, allowed us to improve the genetic characterisation of the SMA locus. Moreover, it will be useful to define a subtype of patients (i.e. those with three SMN2 copies and different SMA type) to further investigate the functional copies of SMN2 and possible modifiers of the phenotype. Supported by GENAME Project, CIBERER and FIS 05-2416. P12.157 High throughput, complete genotyping of the tNFRsF1A gene. this project is supported through coordination theme 1 (Health) of the European community‘s FP7 S. Lezer, A. Yakir, N. Navot; Pronto Diagnostics Ltd, Rehovot, Israel. The TNF Receptor Associated Periodic Syndrome (TRAPS) is a rare autosomal dominant multisystematic autoinflammatory disorder, caused by sporadic mutations in the TNF super family Receptor 1A gene (TNFRSF1A). Genetic diagnosis of TRAPS consists usually of sequencing of exons 2-4 of TNFRSF1A gene. However, mutations which cause TRAPS have been also found outside these exons; therefore, a system that would offer complete genotyping of the TNFRSF1A gene would be highly advantageous. We are currently developing an answer to this need using a new, high throughput technique, for simultaneous detection of both known and novel point mutations (SNPs and pathogenic mutations) and of large-scale genetic rearrangements in the TNFRSF1A gene. This system, called EMMA (enhanced mismatch mutation analysis) is based on electrophoretic heteroduplex analysis (HDA) and semiquantitative multiplexed PCR by multi-capillary electrophoresis. The EMMA (Fluigent, France) mutation detection method is an alternative to dHPLC and sequencing. It combines all the advantages of the screening before sequencing strategy: high throughput, major reduction in sequencing costs and high productivity. The presence of both point mutations and long-range rearrangements has a “signature” that can be associated with quantitative and objective numerical criteria. The analysis of electrophoregrams can be fully automated; a feature that for the rare TRAPS case is less imperative, but will be very useful for high-throughput screening of clinically important genes with more prevalent SNPs and pathogenic allele variants. P12.158 New trinucleotide diseases analysis based on HPLc and QF PcR M. Skrzypczak-Zielinska 1,2 , A. Sulek-Piatkowska 3 , A. Plawski 2 , R. Slomski 2 , U. G. Froster 1 ; 1 Institute of Human Genetics, Leipzig, Germany, 2 Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland, 3 Department of Genetics, Institute of Psychiatry and Neurology, Warszawa, Poland. Trinucleotide expansions are an important mutational form specifically in neurogenerative disorders such as HD (Huntington disease), different types of SCA (Spinocerebellar ataxia), SBMA (Spinal and bulbar muscular atrophy) and DM1 (Myotonic dystrophy type 1). Trinucleotide disorders are characterized by an increasing of severity of disease course in the next generation of mutation curriers. The number of repeats may reach over 2000 in severe affected individuals. These larger expansions require specific and time consuming methods for identification, such as fragments lengths analysis by polyacrylamide gel electrophoresis (PAGE) or Southern blotting. Identification and exact determination of alleles on the molecular level is very important for diseases diagnosis and prognosis. The aim of our study was to develop a highly sensitive, automated and economical molecular method for determination and characterization of trinucleotide repeat regions. Here we present the molecular test based on high performance liquid chromatography (HPLC) and quantitative fluorescent (QF) PCR for characterization of trinucleotide repeats. We analyzed 403 samples - clinically diagnosed with different trinucleotide disorders. Our results indicated high accuracy and consistency of the data obtained with HPLC (± 3 CAG) compared to classical methods based on PAGE and sequencing. The results obtained using combined QF and Long PCR showed higher precision in comparison to the results obtained by traditional techniques. We conclude that HPLC, QF and Long PCR
Molecular basis of Mendelian disorders can be used as a sensitive and efficient alternative diagnostic method compared to conventional techniques for measuring fragment lengths in trinucleotide diseases. P12.159 characterization of two novel mutations in tricho-rhinophalangeal syndrome S. Cuevas 1 , A. Flores 2 , R. Ortiz de Luna 3 , M. Rivera-Vega 4 , J. Morales 5 , O. Mutchinick 5 , L. Gonzalez 4 ; 1 Hospital General de Mexico, Universidad Nacional Autonoma de Mexico, Mexico d.f., Mexico, 2 Hospital Infantil de Mexico, Mexico d.f., Mexico, 3 Hospital Infantil de Mexico, Mexico D.F., Mexico, 4 Hospital General de Mexico, Universidad Nacional Autonoma de Mexico, Mexico D.F., Mexico, 5 Instituto Nacional de Ciencias Medicas Salvador Zubiran, Mexico D.F., Mexico. Mutations of the TRPS1 gene lead to the tricho-rhinophalangeal syndromes (TRPS) types I or III. They are characterized by craniofacial and skeletal abnormalities. Cone-shape epiphyses are the characteristic radiographic findings. The patients have sparse scalp hair, a bulbous tip of the nose, a long flat philtrum, and a thin upper vermillion border. TRPS III is similar to TRPS I except by the presence of severe brachydactyly due to short metacarpals and severe short stature. TRPS II or Langer-Giedion syndrome is a microdeletion syndrome affecting both the TRPS1 and EXT1 genes and differs from TRPS I and TRPS III by the presence of mental retardation and multiple cartilaginous exostoses. TRPS I is inherited as an autosomal dominant trait and is due to molecular defects in the TRPS1 gene. In the present study we describe two novel mutations in 2 families affected with TRPS I. We screened all exons of the TRPS1 from the patients. The mutation analysis showed missense mutation in exon 3 and nonsense mutation in exon 4 of the TRPS1 gene. The TRPS I phenotypes of most patients with a nonsense mutation and with a TRPS1 deletion or disruption are very similar. All nonsense mutations in a heterozygous state, reduce the doses of TRPS1 protein, supporting that haploinsufficiency is the cause of TRPS. Our data show a higher genotypic spectrum in the TRPS I and demonstrate that mutations within the initial region of the enzyme and in the GATA region of the TRPS1 gene result in TRPS I syndrome. P12.160 Large genomic rearrangements in the Usher genes L. Larrieu 1 , V. Faugère 1 , S. Le Guédard-Méreuze 2 , C. Abadie 1 , B. Gilbert-Dussardier 3 , C. Blanchet 4 , C. Hamel 4 , P. Castorina 5 , G. Lina 6 , M. Claustres 1,2 , A. F. Roux 1,2 ; 1 CHU de Montpellier, Laboratoire de Génétique Moléculaire, Montpellier, France, 2 Inserm, U827, Montpellier, France, 3 CHU de Poitiers, Service de génétique médicale, Poitiers, France, 4 CHU de Montpellier, Centre National de Référence des Affections Sensorielles Génétiques, Montpellier, France, 5 Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy, 6 CHU de Lyon, service ORL, Lyon, France. Usher syndrome is an autosomal recessive hearing loss which combines sensorineural deafness and retinitis pigmentosa. It is both clinically and genetically heterogeneous. Three clinical subtypes are defined in respect to the vestibular dysfunction and the degree of hearing loss. Type I (USH1) patients have profound hearing loss (HL) and vestibular dysfunction. Type II (USH2) is the most frequent form and patients have moderate to severe HL and normal vestibular function. Type III (USH3) is characterized by progressive HL. So far, 9 genes are known to be responsible for Usher syndrome (5 for USH1, 3 for USH2 and 1 for USH3). We have developed an exhaustive molecular analysis based on sequencing of the 9 genes (exons + flanking intronic regions). More than 180 USH families have been analysed so far. We identified the pathogenic mutations in most cases; however, 15% of our cohort carries either one or no mutation in any of the genes. The absence of mutation can sign the presence of large rearrangements that remain undetected by sequencing. Therefore we have developed a semi-quantitative non-fluorescent multiplex assay to identify large deletions or duplications. In addition, a MLPA kit has been recently designed for PCDH15. We have detected so far 12 large genomic rearrangements in 11 families. The breakpoints could be identified for 6 families. This study shows that large genomic rearrangements are implicated in at least 6 % of the Usher cases and their screening should be included for efficient molecular diagnosis. P12.161 Functional analysis of splicing mutations in Usher syndrome genes T. Jaijo 1,2 , E. Aller 1,2 , I. Hernán 3 , M. J. Gamundi 3 , M. Carballo 3 , J. M. Millán 1,2 ; 1 Hospital Universitario La Fe, Valencia, Spain, 2 CIBER de Enfermedades Raras CIBERER, Valencia, Spain, 3 Servicio de Laboratorio. Departamento de Genética y Biología Molecular. Hospital de Terrassa, Terrassa, Spain. Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, Retinitis Pigmentosa and variable vestibular areflexia. Clinically three subtypes are distinguished (USH1- USH3) and to date, nine genes have been associated to the disease. The most prevalent USH genes are MYO7A for USH1 and USH2A for USH2, with prevalences that range 29-55% and 75% respectively. Five sequence variants, suspected to affect the splicing process, had been identified in our cohort of USH patients: c.2283-1G>T and c.5856G>A in the MYO7A gene, and c.1841-2A>G, c.2167+5G>A and c.5298+1G>C in the USH2A gene. In the present study, minigenes based on pCI-Neo Mammalian Expression vector were used to investigate the implication of these variants in the mRNA processing. Exons and flanquing intronic sequences, both wild type as mutated, were cloned. After transfection of COS-7 cells, RNA was extracted, retrotranscripted to cDNA and analyzed. All changes were observed to affect the splicing process, being responsible for the skipping of implicated exons. Furthermore, the mutation c.2167+5G>A generated too an alternative splicing, where the final of the affected exon is lost. It is important to analyze the role of putative splicing variants in USH genes in order to determine their pathologic effect. Most USH genes show an expression profile restricted to hardly accessible tissues so, strategies as minigenes are needed to determine the implication of identified variants in the mRNA processing. P12.162 Unclassified variants in Usher syndrome and related disorders D. Baux1 , M. Claustres1,2 , A. F. Roux1,2 ; 1CHU Montpellier, Laboratoire de génétique moléculaire, Montpellier, France, 2Inserm, U827, Montpellier, France. Genes involved in Usher syndrome, the major cause of hereditary deaf-blindness, are particularly prone to alterations of unknown clinical significance (Unclassified Variants, UVs). In the MYO7A and USH2A genes, such alterations can account for up to 50% of the newly identified variants in molecular diagnosis. The most encountered type of UV is missense variants, which can affect the protein structure and therefore its function. In vitro assessment is there difficult and expensive, and in silico studies represent an attractive way to classify these variants. We present here a multiple step analysis which combines biological observations and in silico studies. Six items are taken into account (4 of which are discussed in Greenblatt et al., 2008), and are presented below: Review of published literature Biological observations In silico studies Position in cis or trans of a second alteration Presence or absence in relevant control DNAs Ortholog conservation Conservation in similar protein domains 3D analysis Each item is then rated following precise rules, and the sum allows the classification of missense variants on a four-grade scale, UV1-4, as recommended in the guidelines published by the Clinical Molecular Genetics Society, UV1 corresponding to certainly non-pathogenic variants and UV4, considered as certainly pathogenic variants. This empirical method has already been applied to 115 missense variants identified in 6 genes responsible for Usher syndrome or related non-syndromic affections, and will be extended to all identified missense variants in these genes. Moreover, this method could be applied to variants identified in genes involved in any recessively transmitted Mendelian disease. P12.163 Vascular Ehlers-Danlos syndrome in Italy: identification of 15 novel and 2 known COL A mutations B. Drera 1 , N. Zoppi 1 , M. Ritelli 1 , G. Tadini 2 , M. Venturini 3 , A. Wischmeijer 4 , M. Nicolazzi 5 , A. Musumeci 6 , M. Clementi 7 , P. Calzavara Pinton 3 , M. Valli 8 , S. Barlati 1 , M. Colombi 1 ; 1 University of Brescia, Dept. Biomedical Sciences and Biotechnology, Brescia,
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Volume 17 Supplement 2 May 2009 www
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European Society of Human Genetics
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Table of Contents spoken Presentati
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Plenary Lectures PL2.2 massive para
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Concurrent Symposia s01.1 Genome va
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Concurrent Symposia Monogenic diabe
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Concurrent Symposia invariable in t
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Concurrent Symposia s11.2 clinical,
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Concurrent Symposia s13.2 A novel g
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Concurrent Sessions c01.1 mRNA-seq
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Concurrent Sessions velopmental del
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Concurrent Sessions development of
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Concurrent Sessions c04.6 Duplicati
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Concurrent Sessions genes to be rec
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Concurrent Sessions c07.5 Prenatal
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Concurrent Sessions with familial h
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Concurrent Sessions University of W
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Concurrent Sessions with this, we f
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Concurrent Sessions had immotile ci
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Concurrent Sessions abnormal glycos
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Concurrent Sessions showers’ and
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Concurrent Sessions partial gene de
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Concurrent Sessions leads to distre
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Genetic counseling Genetics educati
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Clinical genetics and Dysmorphology
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Cytogenetics P03. cytogenetics Recu
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Cytogenetics use of metaphase analy
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Cytogenetics 2: mother’s age < fa
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Cytogenetics P03.028 HLA B27 allele
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Cytogenetics karyotype revealed a p
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Cytogenetics drome is estimated at
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Cytogenetics P03.057 Pathological c
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Cytogenetics grandmother and 2 mate
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Cytogenetics method used to detect
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Cytogenetics P03.082 High-resolutio
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Cytogenetics All detected anomalies
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Cytogenetics somy for chromosome 2.
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Cytogenetics cially in chromosome 4
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Cytogenetics (59.390.122 to 62.021.
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Cytogenetics For further characteri
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Cytogenetics 9p duplication. This c
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Cytogenetics regions with mental /d
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Cytogenetics donation program of po
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Cytogenetics P03.165 interpretation
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Cytogenetics P03.174 Deletion of th
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Cytogenetics P03.183 An atypical 7q
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Cytogenetics spermia, 11 oligosperm
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Reproductive genetics and social fa
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Reproductive genetics mosomal chang
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Reproductive genetics two cohorts w
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Reproductive genetics the 147 SC ch
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Prenatal and perinatal genetics P05
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Prenatal and perinatal genetics and
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Prenatal and perinatal genetics fro
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Prenatal and perinatal genetics dev
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Prenatal and perinatal genetics in
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Prenatal and perinatal genetics obj
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Prenatal and perinatal genetics P05
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Cancer genetics P06.005 tiling reso
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Cancer genetics tient group in whic
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Cancer genetics chronic inflammatio
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Cancer genetics licular thyroid can
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Cancer genetics also studied. In 31
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Cancer genetics tile polyposis. We
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Cancer genetics Upon recombinant ex
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Cancer genetics variant allele was
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Cancer genetics from patients with
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Cancer genetics tion (PAX5 and GATA
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Cancer genetics scribed underexpres
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Cancer genetics of the ZIC gene fam
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Cancer genetics Materials and metho
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Cancer genetics the past and it is
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Cancer genetics P06.130 spectrum an
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Cancer genetics P06.139 the role of
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Cancer genetics and MSH2 germline m
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Cancer genetics P06.155 New roles f
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Cancer genetics screening was perfo
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Cancer genetics val (DFI) than pati
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Cancer genetics is hTERC gene ampli
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Cancer genetics on chromosome regio
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Cancer genetics preferentially dupl
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Cancer cytogenetics mutations in co
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Cancer cytogenetics P07.08 molecula
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Statistical genetics, includes Mapp
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Complex traits and polygenic disord
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Evolutionary and population genetic
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Genomics, Genomic technology and Ep
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Page 297 and 298: Genomics, Genomic technology and Ep
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Page 385 and 386: Genetic analysis, linkage ans assoc
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Genetic analysis, linkage ans assoc
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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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