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Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes Chen, H.; Lowther, W.; Avramopoulos, D.; Antonarakis, Stylianos 1994
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval Ducros, A; Nagy, T; Alamowitch, S; Nibbio, A; ... Tournier-Lasserve, E 1996
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Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation Hutter, Pierre; Couturier, A.; Scott, R. J.; Alday, P.; ... Buerstedde, J. M. 1996
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Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3 Chen, H.; Rossier, Colette; Lalioti, M. D.; Lynn, A.; ... Antonarakis, Stylianos 1996
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A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3 Sertie, A. L.; Quimby, M.; Moreira, E. S.; Murray, J.; ... Passos-Bueno, M. R. 1996
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An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36 Radhakrishna, U.; Blouin, Jean-Louis; Solanki, J. V.; Dhoriani, G. M.; Antonarakis, Stylianos 1996
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Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy Lalioti, M. D.; Scott, Hamish Steele; Buresi, C.; Rossier, Colette; ... Antonarakis, Stylianos 1997
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Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4 Mehenni, H.; Blouin, Jean-Louis; Radhakrishna, U.; Bhardwaj, S. S.; ... Antonarakis, Stylianos 1997
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A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region Bartsch, O.; Hinkel, G. K.; Petersen, M. B.; Konig, U.; ... Antonarakis, Stylianos 1997
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Fortuitous detection of uniparental isodisomy of chromosome 6 Bittencourt, M. C.; Morris, Michael Andréw; Chabod, J.; Gos, A.; ... Tiberghien, P. 1997
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Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3 Chen, H.; Rossier, Colette; Nakamura, Y.; Lynn, A.; ... Antonarakis, Stylianos 1997
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Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13 Eliez, Stéphan; Morris, Michael Andréw; Dahoun-Hadorn, S.; DeLozier-Blanchet, C. D.; ... Antonarakis, Stylianos 1997
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Mutation in GLI3 in postaxial polydactyly type A Radhakrishna, U.; Wild, A.; Grzeschik, K. H.; Antonarakis, Stylianos 1997
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Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene Young, M.; Inaba, H.; Hoyer, L. W.; Higuchi, M.; ... Antonarakis, Stylianos 1997
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The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103 Neerman Arbez, Marguerite; Antonarakis, Stylianos; Blouin, Jean-Louis; Zeinali, S.; ... Tuddenham, E. G. 1997
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The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region Radhakrishna, U.; Blouin, Jean-Louis; Mehenni, H.; Mehta, T. Y.; ... Antonarakis, Stylianos 1997
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Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis Radhakrishna, U.; Blouin, Jean-Louis; Mehenni, H.; Patel, U. C.; ... Antonarakis, Stylianos 1997
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A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients Masternak, Krzysztof; Barras, Emmanuele; Zufferey, Madeleine; Conrad, Bernard; ... Reith, Walter 1998
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PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy Guicheney, P; Vignier, N; Zhang, X; He, Y; ... Tryggvason, K 1998
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A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients Rosatelli, M. C.; Meloni, A.; Devoto, M.; Cao, A.; ... Antonarakis, Stylianos 1998
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Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci Stratakis, C. A.; Kirschner, L. S.; Taymans, S. E.; Tomlinson, I. P.; ... Carney, J. A. 1998
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Family history characteristics, tumor microsatellite instability and germline MSH2 and MLH1 mutations in hereditary colorectal cancer Bapat, B V; Madlensky, L; Temple, L K; Hiruki, T; ... Gallinger, S 1999
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Early-onset familial dilatation of the ascending aorta Beghetti, Maurice; Steinmann, Beat; Didier, Dominique; Kalangos, Afksendiyos; Bottani, Armand 1999
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Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) Roessler, E.; Mittaz, L.; Du, Y.; Scott, Hamish Steele; ... Antonarakis, Stylianos 1999
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A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes Wang, S. Y.; Cruts, M.; Del-Favero, J.; Zhang, Y.; ... van Broeckhoven, C. 1999
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The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster Neerman Arbez, Marguerite; Antonarakis, Stylianos; Honsberger, A.; Morris, Michael Andréw 1999
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Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia Neerman Arbez, Marguerite; Honsberger, A.; Antonarakis, Stylianos; Morris, Michael Andréw 1999
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The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations Radhakrishna, U.; Bornholdt, D.; Scott, Hamish Steele; Patel, U. C.; ... Antonarakis, Stylianos 1999
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Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B Wiszniewski, W.; Fondaneche, M. C.; Lambert, N.; Masternak, Krzysztof; ... Lisowska-Grospierre, B. 2000
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Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3 Scott, Hamish Steele; Antonarakis, Stylianos; Mittaz, L.; Lalioti, M. D.; ... Gal, A. 2000
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Search for a mutation in the tau gene in a Swiss family with frontotemporal dementia Savioz, Armand; Kovari, Eniko Veronika; Anastasiu, R; Rossier, Colette; ... Leuba, G 2000
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Familial frontotemporal dementia with ubiquitin inclusion bodies and without motor neuron disease Kovari, Eniko Veronika; Leuba, G; Savioz, Armand; Saini, Krishan; ... Bouras, Constantin 2000
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Proximal myotonic myopathy: clinical, electrophysiological and pathological findings in a family Kohler, André; Burkhard, Pierre; Hefft, S; Bottani, Armand; ... Magistris, Michel 2000
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Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping Kibar, Z.; Dube, M. P.; Powell, J.; McCuaig, C.; ... Rouleau, G. A. 2000
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Mutations in GJB6 cause hidrotic ectodermal dysplasia Lamartine, J.; Munhoz Essenfelder, G.; Kibar, Z.; Lanneluc, I.; ... Waksman, G. 2000
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Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: schizophrenia linkage collaborative group III Levinson, D. F.; Holmans, P.; Straub, R. E.; Owen, M. J.; ... Mallet, J. 2000
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Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region Berry, A.; Scott, Hamish Steele; Kudoh, J.; Talior, I.; ... Bonne-Tamir, B. 2000
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Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity Blouin, Jean-Louis; Meeks, M.; Radhakrishna, U.; Sainsbury, A.; ... Antonarakis, Stylianos 2000
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Fibrinogen gene mutations accounting for congenital afibrinogenemia Neerman Arbez, Marguerite 2001
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The molecular basis of inherited afibrinogenaemia Neerman Arbez, Marguerite 2001
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Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness Masmoudi, S.; Antonarakis, Stylianos; Schwede, T.; Ghorbel, A. M.; ... Guipponi, Michel 2001
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Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness Ben-Yosef, T.; Wattenhofer, M.; Riazuddin, S.; Ahmed, Z. M.; ... Morell, R. J. 2001
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Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness Scott, Hamish Steele; Kudoh, J.; Wattenhofer, M.; Shibuya, K.; ... Antonarakis, Stylianos 2001
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An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree Radhakrishna, U.; Senol, S.; Herken, H.; Gucuyener, K.; ... Antonarakis, Stylianos 2001
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Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14 Grötzsch, H; Pizzolato, Gianpaolo; Ghika, J; Schorderet, D; ... Burkhard, Pierre 2002
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Kjellin's syndrome: fundus autofluorescence, angiographic, and electrophysiologic findings Frisch, Inez B; Haag, Peter; Steffen, Heimo; Weber, Bernhard H F; Holz, Frank G 2002
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A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene Ferreiro-girani, Ana; Monnier, Nicole; Romero, Norma B; Leroy, Jean-Paul; ... Guicheney, Pascale 2002
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Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients Wattenhofer, Marie; Di Iorio, M. V.; Rabionet, Raquel; Dougherty, Loretta; ... Antonarakis, Stylianos 2002
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In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis Michaud, Joelle; Wu, Feng; Osato, Motomi; Cottles, G. M.; ... Scott, Hamish Steele 2002
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Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22 Savioz, Armand; Riederer, Beat M; Heutink, Peter; Rizzu, Patrizia; ... Leuba, Geneviève 2003
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