2009 Vienna - European Society of Human Genetics

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Molecular and biochemical basis of disease P16.36 A novel connexin32 mutation cause X-linked charcot-marietooth disease in Belarus family T. Asadchuk, K. Mosse, N. Rumyantseva; National Center of Research and Applied Medicine «Mother and Child», Minsk, Belarus. The CMT1X is X-linked type of Charcot-Marie-Tooth disease, an inherited demyelinating neuropathy, associated with mutations in Cx32 gene (GJB1) coding for the gap junction protein, connexin 32. The majority of GJB1 mutations are missense mutations. We report a family with asymptomatic mother and her two affected sons from different marriage. Males have severe motor and sensory neuropathy with walking difficulties, steppage gait, prominent muscular atrophy of muscles below the knee, distal weakness, sensory loss, and decreased tendon reflexes. The symptoms are revealed in their hands as well. Both brothers have shown clinical signs by the age of 10-11 years. At the first stage CMT1A was excluded by QF-PCR analysis of duplication in 17p11.2 region. Then direct DNA sequencing analysis of Cx32 gene revealed a novel exon 2 (part 1) mutation identified in all three samples. Mutation c.149C>G in E1 extracellular domain resulted in a serine at codon 50 being replaced by cysteine (Ser50Cys). This substitution was not detected in healthy members of the family. For only 10% mutations in the GJB1 gene, family history of CMT1X disease is documented so far. New mutation is associated with severe phenotype and it’s analysis is crucial for CMT1X diagnosis and genetic counseling for probands and their relatives. P16.37 A novel mutation in mFN2 gene in a patient with cmt type 2A M. T. Akbari1,2 , S. Zare Karizi2 , H. Nemat- Farahzadi2 , G. A. Shahidi3 , M. Karimipoor4 ; 1Department of Medical Genetics, Tarbiat Modares University, Tehran, Islamic Republic of Iran, 2Tehran Medical Genetics Laboratory, Tehran, Islamic Republic of Iran, 3Iran Medical Sciences University, Tehran, Islamic Republic of Iran, 44- Biotechnology Research Center , Pasteur Institute of Iran, Tehran, Islamic Republic of Iran. Charcot-Marie-tooth neuropathies (CMT) are a group of genetically heterogeneous disease of the peripheral nervous system. Ten different genes have so far been identified causing various subtypes of CMT type 2. Mutations in the mitofusin 2 (MFN2) gene have been related to the axonal type of CMT2A. CMT2A is inherited in an autosomal dominant manner. The clinical phenotype is known to be severe and symptoms develop early. MFN2 gene encodes a mitochondrial GTPase protein. Here we report a MFN2 mutation in a CMT Iranian patient with late onset and mild phenotype. These features differ from what was expected. All exons of MFN2 gene were screened by direct sequencing and a de novo novel missense mutation was detected. This missense mutation, c.1574 A>G (N525S), is in exon 13 and the amino acid is located in the region between the transmembrane domain and the first coiled coil region of the polypeptide chain. To date, most of the mutations reported in MFN2 gene were missense mutations and most of them were located in the GTPase domain and the region linking the GTPase domain and the first coiled coil region. The effect of this mutation and the consequent amino acid change on the stability of the mitofusion 2 protein was studied by using Mupro (www.mupro.proteomics.ics.uci.edu) online software, which predicted that this mutation decreases the structural stability by 94 % score. However, we feel further work; either functional or modeling studies are required to establish the actual effect of this mutation. P16.38 mutation spectrum and genotype phenotype correlation for dynamin 2 gene in autosomal dominant centronuclear myopathy : from neonatal to adult forms. E. Schaefer 1 , C. R. Pierson 2 , A. Toussaint 3 , E. Taylor DeChene 2 , C. Poirson 3 , C. Kretz 3 , A. Nicot 3 , J. Boehm 3 , N. Dondaine 1 , L. Bomme-Ousager 4 , V. Drouin- Garraud 5 , A. Echaniz-Laguna 6 , C. Jern 7 , H. Karasoy 8 , A. Krause 9 , B. Leheup 10 , J. Melki 11 , L. Merlini 12 , A. Urtizberea 13 , C. Wallgren-Petterson 14 , E. Zanoteli 15 , J. Mandel 1,3 , A. Beggs 2 , J. Laporte 3 , V. Biancalana 1 ; 1 Laboratoire Diagnostic Génétique et EA3949. Faculté de Médecine - CHRU, Strasbourg, France, 2 Genetics Division, Children’s Hospital Boston, Harvard Medical School, Boston, ME, United States, 3 IGBMC, Illkirch, France, 4 Odense University Hospital, Odense, Denmark, 5 Unité de Génétique Clinique, CHU Charles Nicolle, Rouen, France, 6 Département de Neurologie, Hôpital Civil, Strasbourg, France, 7 Sahlgrenska University Hospital/Östra, Göteborg, Sweden, 8 Department of Neurology Ege, University Medical School Hospital, Izmir, Turkey, 9 National Health Laboratory Service (NHLS) & University of the Witwatersrand, Joannesburg, South Africa, 10 Unité de Génétique Clinique, CHU Brabois, Nancy, France, 11 Department of Human Gentics, Head, Hadassah University Hospital, Jerusalem, Israel, 12 Muscle Unit, Medical Genetics, University Ferrara, Ferrara, Italy, 13 Centre de Référence Maladies Neuromusculaires, APHP, Hôpital Marin d’Hendaye, Hendaye, France, 14 University of Helsinki and The Folkhälsan Institute of Gentics, Helsinki, Finland, 15 NIFESP-EPM, Sao Paulo, Brazil. Centronuclear (myotubular) myopathies (CNM) are characterized by muscle weakness and abnormal centralization of nuclei in muscle fibres. The severe neonatal X-linked form is due to mutations in the MTM1 gene. Mutations in the amphiphysin2 (BIN1) gene have been identified in autosomal recessive cases with childhood onset and moderate severity. Mutations in the Middle domain and in the Pleckstrin Homology (PH) domain of dynamin2 (DNM2) have been found in patients with autosomal dominant inheritance. Adulthood onset and mild severity are the common features in the majority of mutations. However some mutations are associated with neonatal onset. Whereas many mutations are localised in PH domain, this domain has also been found mutated in patients with dominant Charcot-Marie-Tooth neuropathy. We sequenced the DNM2 gene in 70 families with CNM, including 13 families with dominant inheritance. We found mutations in 10 families with dominant inheritance and in 24 sporadic cases. These mutations included 21 missense in the Middle domain, 11 missense and 1 splice site deletion in the PH domain. These results confirm that a DNM2 defect is the main cause of adulthood form of CNM, but is also a significant cause of neonatal onset CNM, as we found 9 cases with this form mutated in exons 8 or 16 (de novo). Our study, concerning 34 new families, confirms the variability in onset and severity and supports a screening strategy based on hot spot mutations and genotype phenotype correlation. We will present the functional connections between the 3 known proteins mutated in CNM. P16.39 Merosin-deficient congenital muscular dystrophy (MDC1A) in Russian patients. T. B. Tiburkova, O. A. Schagina, E. L. Dadaly, G. E. Rudenskaya, A. V. Polyakov; Research Centre for Medical Genetics, Moscow, Russian Federation. MDC1A (MIM 607855) is a severe autosomal recessive disorder caused by LAMA2 mutations. The gene encodes alpha-2 chain of laminin, or else merosin. LAMA2 mutations produce complete or, less often, partial merosin deficiency. In European populations, MDC1A amounts to 30-50% of all congenital muscular dystrophies cases. DNA diagnostics of MDC1A is complicated by the gene large size and absence of major mutations. Though, by now, about 100 LAMA2 mutations were registered in MDC1A patients. Immunohistochemical detection of merosin in muscles is another diagnostic possibility. Four unrelated Russian patients with MDC1A presentation were examined for LAMA2 mutations by direct sequencing of all coding exons including exon-introns boundaries. In two patients, four mutations were detected. The genotypes were c.3829C>T/ c.7536delC, and c.5422C>T/ c.7701delTinsGTGTCCCTAGGTGTCCCTA, two of the mutations are novel. The phenotypes were typical for ‘classic’ MDC1A, i.e. congenital muscular weakness with hypotonia, areflexia, and early contractures, high CPK level (700-1300 U/l), EMG signs of muscle lesion with concomitant hypomyelinating polyneuropathy, unspecific dystrophic pattern on muscle biopsy, and characteristic periventricular white matter abnormality on MRI. On follow-up to 4-6 years, the patients never walked and were severely disabled physically but showed no clinical signs of cerebral involvement. Two patients in whom mutations were not found may have extensive deletions undetectable by routine methods. These families need immunohistochemical MDC1A confirmation after which indirect DNA prenatal testing with STR-markers for 6q22q23 region could be performed.
Molecular and biochemical basis of disease P16.40 Post mortem Duchenne muscular dystrophy DNA diagnostics from archival milk teeth C. Stein 1 , W. M. Schmidt 2 , D. Jovanovic 2 , H. Rehder 3 , R. E. Bittner 2 ; 1 Department of Forensic Medicine, Medical University of Vienna, Vienna, Austria, 2 Neuromuscular Research Department, Center of Anatomy & Cell Biology, Medical University of Vienna, Vienna, Austria, 3 Department of Medical Genetics, Medical University of Vienna, Vienna, Austria. The X-linked Duchenne muscular dystrophy (DMD) remains an untreatable lethal disease causing the premature death of affected patients in their early twenties. DMD is caused by mutations in the highly complex, 79 exons spanning DMD gene. Since the characterization of the complete DMD coding sequence in the late 1980ies, thousands of different mutations scattered throughout the gene have been reported. If a DMD-patient has died prior to this era, the molecular basis for his disease remained unresolved, which hampers the accurate and direct genetic counseling of his family members, such as the establishment of carrier-diagnosis in female relatives. Here, we report on the successful post mortem analysis of the DMD gene in two different cases. In both cases, we could get hold of preserved milk teeth of the deceased patients and successfully isolated genomic DNA thereof. Subsequently, we subjected these DNA-samples isolated from milk teeth to multiplex ligation-dependent probe amplification (MLPA)-based screening for whole exon deletions or duplications within the DMD gene. In both cases we could detect the pathogenic mutation, i.e. an out-of-frame deletion of exon 21 in one case and an out-of-frame consecutive deletion of exons 46-48 in the other. In both cases reported here, the DNA samples extracted from teeth (which had been kept for more than 20 years and more than 40 years, respectively) were suitable for MLPA and PCR procedures and were the biologic source for establishing the causative mutation within the largest gene known, the DMD gene, even decades after the patient’s death. P16.41 comparative clinical and molecular analysis of DmD gene deletions and duplications E. Neagu 1 , G. Girbea 1 , A. Constantinescu 1 , C. Constantinescu 1 , D. Iancu 1 , G. Talpes 1 , E. Manole 2 , E. Ionica 3 , N. Butoianu 4 , D. Plesca 5 , A. Todoran 6 , L. Barbarii 1 ; 1 National Institute of Legal Medicine “Mina Minovici”, Bucharest, Romania, 2 Neuropathology Clinic - Colentina Hospital, Bucharest, Romania, 3 Multiuser Research Unit – University of Bucharest, Bucharest, Romania, 4 Neuropediatric Clinic - “Al.Obregia” Hospital, Bucharest, Romania, 5 Pediatric Hospital “V. Gomoiu, Bucharest, Romania, 6 Medical University Targu Mures, Bucharest, Romania. Deletions and duplications in dystrophin gene are known to cause approximately 65% of Duchenne and Becker muscular dystrophies (DMD/BMD). To detect these major DMD gene mutations multiplex ligation-dependent probe amplification (MLPA) was applied on samples from 107 unrelated patients with clinical diagnostic or clinical suspicion of DMD/BMD. In our study, by comparing the major clinical and mutational features (location, extent, predicted effect on gene reading frame) of the 11 duplications lot and the 55 deletions lot, we have tried to asses the usefulness of the molecular analysis for the prediction of the clinical form severity and natural history of DMD/BMD in order to improve their clinical management. P16.42 mutation-associated exon skipping pinpoint localization of exonic splicing regulatory elements in the DmD gene S. Le Guedard-Mereuze1 , D. Thorel2 , D. Méchin2 , C. Saquet2 , J. Miro3 , P. Khau van Kien2 , M. Claustres2,1,3 , S. Tuffery-Giraud1,3 ; 1Inserm U827 - Laboratoire de Génétique Moléculaire, Montpellier, France, 2CHU Montpellier - Laboratoire de Génétique Moléculaire, Montpellier, France, 3Université Montpellier 1 - Faculté de Médecine, Montpellier, France. Mutation-associated exon skipping has been recognized in an increasing number of genes as a novel form of splicing mutation. Not only nonsense mutations, but also missense and even translationally silent mutations can lead to alternative splicing events. In the DMD gene, the identification of a mutation introducing a premature stop codon in patients with a milder (Becker-like) phenotype than expected (Duch- enne-like) is a pointer of such mechanisms. The rescue of the phenotype results from the partial elimination of the truncating mutation from dystrophin mRNA by skipping of an in-frame exon. A large fraction of these mutations are supposed to exert their effects by disrupting the activity of Exonic Splicing Enhancers (ESEs), but repression of splicing may also be due to the creation of an Exonic Splicing Silencer (ESS). Using cDNA-based mutation detection analysis, we have identified 9 novel mutations in exons 19, 29, 38, 39, 59 and 66 of the DMD gene that lead to different extents of misspliced transcripts in Duchenne (DMD) and Becker (BMD) patients. To further elucidate the underlying mechanisms, disruption of cis-regulatory splicing sequences was assessed by using the Human Splicing Finder software (http://www.umd. be/HSF/). Seven out of the 9 mutations were found to abrogate one or several ESE(s). An ESE-dependent splicing assay has been set up to confirm the in silico predictions. This study illustrates how diseasecausing mutations can contribute to shed light on new modulatory elements important for splicing in the DMD gene, which may be important for the exon-skipping therapeutic strategy. P16.43 Analysis of the dystrophin gene in Duchenne muscular dystrophy patients from Bashkortostan Republic of Russia I. Khidiyatova1 , I. Gilyazova1 , I. Khidiyatova2 , R. Magzhanov2 , E. Khusnutdinova1 ; 1 2 Institute of Biochemistry and Genetics, Ufa, Russian Federation, Bashkir State Medical University, Ufa, Russian Federation. Duchenne muscular dystrophy is caused by mutations in the dystrophin gene (DMD) consisting of 79 exons. It is known that 25%-75% of all DMD gene mutations in different populations are huge deletions covering one and more exons and located in 2 hot points - 5’ (6-19 exons) and 3’ (40-53 exons) regions. More than 6% of mutations are large duplications, the rest are point mutations. Using the multiplex PCR we studied mutations spectrum of twenty exons (3, 4, 6, 8, 13, 17, 19, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 60) and promoter region of DMD gene in patients from 60 unrelated families, living in Bashkortostan Republic (the territory of the Southern Urals). Exon deletions of the gene were revealed in 31.75% of families - 30% in 5’-region, 70% - in 3’-region. SSCP-analysis and consequent sequencing of DNA samples without large deletions revealed 2 new point mutations not described before and 1 polymorphism. In 3 patients from 2 families of Russian ethnic origin we found c.401_404delCCAA (p.Thr134ThrfsX7) in the 6th exon; it’s frequency is 3.17% among unrelated patients. Mutation c.6626delA (p.Lys2210ArgfsX11) (1.6%) was revealed in 46th exon in 1 patient in Tatar ethnic origin. We revealed mutation c.7728T>C (Asn2575Asn) in the 53th exon, the functional significant of which is unknown. Thus, specific mutation spectrum of DMD gene was found in patients from Bashkortostan Republic that is very important for analysis of structural and functional features of the gene and for optimal DNA-diagnostics approaches development. P16.44 mRNA-based analysis of point mutations in DmD gene in a selected cohort of spanish patients J. Juan Mateu1,2 , M. Rodriguez1,2 , M. Moragues3 , L. Gozalez-Quereda1,2 , M. J. Barcelo1,2 , J. Colomer4 , A. Nascimento4 , E. Tizzano1,2 , P. Gallano1,2 ; 1 2 Genetics Dept Hospital Sant Pau, Barcelona, Spain, CIBERER, Spain, 3 4 CIBERNED, Barcelona, Spain, Neurology Dept Hospital Sant Joan De Déu, Barcelona, Spain. The most common form of Duchenne and Becker muscular dystrophies causing mutations are large intragenic deletions and duplications that account for 60 to 70% of all cases. The remaining cases are due to small mutations consisting in nonsense mutations, missense mutations, splicing mutations, frameshift small deletions or insertions and midintronic insertions. The detection of these small mutations in routine diagnosis have long been a difficult issue due to the complexity and large size of the DMD gene. In order to identify these mutations we have chosen a previously described method based on whole sequencing of mRNA from muscle biopsy. To validate the method, we studied a selected cohort of nine unrelated patients with clinical and immunohistochemical data compatible with distrophinopathy and without deletions or duplications in the DMD gene. A total of new seven mutations were found, six consisting in different nonsense mutations and the remaining consisting in a acceptor
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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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Molecular basis of Mendelian disord
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Page 329 and 330: Molecular basis of Mendelian disord
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Page 403 and 404: Author Index Allanson, J.: P02.140
Page 405 and 406: Author Index 0 Barbacioru, C.: C01.
Page 407 and 408: Author Index 0 Bonneau, D.: C16.2,
Page 409 and 410: Author Index 0 Chakravarti, A.: C13
Page 411 and 412: Author Index 0 Dan, D.: P01.39, P14
Page 413 and 414: Author Index 0 Duskova, J.: P06.012
Page 415 and 416: Author Index Franke, A.: P09.056 Fr
Page 417 and 418: Author Index Grasso, R.: P02.025 Gr
Page 419 and 420: Author Index Holder-Espinasse, M.:
Page 421 and 422: Author Index Jurkiewicz, E.: C14.5
Page 423 and 424: Author Index Kooper, A. J. A.: P05.
Page 425 and 426: Author Index Li, K. J.: P11.086 Li,
Page 427 and 428: Author Index Martinet, D.: P03.095
Page 429 and 430: 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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