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Drosophila melanogaster acetylcholinesterase gene. Structure, evolution and mutations Fournier, D.; Karch, François; Bride, J M.; Hall, Lucinda M. C.; ... Spierer, Pierre 1989
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The importance of dominant negative effects of amino acid side chain substitution in peptide-MHC molecule interactions and T cell recognition Boehncke, Wolf-Henning; Takeshita, T.; Pendleton, C. D.; Houghten, R. A.; ... Germain, R. N. 1993
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Normal phenotype with paternal uniparental isodisomy for chromosome 21 Blouin, Jean-Louis; Avramopoulos, D.; Pangalos, C.; Antonarakis, Stylianos 1993
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Dinucleotide repeat polymorphism within ERCC5 gene Samec, S.; Clarkson, S. G.; Blaschak, J.; Chakravarti, A.; ... Antonarakis, Stylianos 1994
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The SWISS-PROT protein sequence data bank: current status Bairoch, Amos Marc; Boeckmann, Brigitte 1994
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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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Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically Blouin, Jean-Louis; Binkert, F.; Antonarakis, Stylianos 1994
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Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis Pangalos, C.; Avramopoulos, D.; Blouin, Jean-Louis; Raoul, O.; ... Antonarakis, Stylianos 1994
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Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain Margolis, R. L.; Breschel, T. S.; Li, S. H.; Kidwai, A. S.; ... Ross, C. A. 1995
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Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia Rogan, P. K.; Close, P.; Blouin, Jean-Louis; Seip, J. R.; ... Antonarakis, Stylianos 1995
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Molecular etiology of factor VIII deficiency in hemophilia A Antonarakis, Stylianos; Kazazian, H. H.; Tuddenham, E. G. 1995
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A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination Blouin, Jean-Louis; Christie, D. H.; Gos, A.; Lynn, A.; ... Antonarakis, Stylianos 1995
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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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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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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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Detection of polymorphisms in the human urokinase-type plasminogen activator gene Conne, Béatrice; Berczy, M.; Belin, Dominique 1997
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Association between interleukin-1 receptor antagonist (IL-1ra) gene polymorphism and early and late-onset psoriasis Tarlow, J. K.; Cork, M. J.; Clay, F. E.; Schmitt-Egenolf, M.; ... Duff, G. V. 1997
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The SWISS-PROT protein sequence database: its relevance to human molecular medical research Bairoch, Amos Marc; Apweiler, Rolf 1997
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Genetic polymorphism of CCR5 gene and HIV disease: the heterozygous (CCR5/delta ccr5) genotype is neither essential nor sufficient for protection against disease progression. Swiss HIV Cohort Morawetz, R. A.; Rizzardi, G. P.; Glauser, Dominique; Rutschmann, Olivier Thierry; ... Pantaleo, G. 1997
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Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) Lalioti, M. D.; Mirotsou, M.; Buresi, C.; Peitsch, M. C.; ... Antonarakis, Stylianos 1997
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What is expanded in progressive myoclonus epilepsy? Lalioti, M. D.; Scott, Hamish Steele; 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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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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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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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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Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins Scott, Hamish Steele; Heino, M.; Peterson, P.; Mittaz, L.; ... Antonarakis, Stylianos 1998
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Polymorphisms in the Cd22 gene of inbred mouse strains Lajaunias, Frédéric; Ibnou-Zekri, Nabila; Fossati-Jimack, Liliane; Chicheportiche, Yves; ... Izui, Shozo 1999
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Eukaryotic aldehyde dehydrogenase (ALDH) genes: human polymorphisms, and recommended nomenclature based on divergent evolution and chromosomal mapping Vasiliou, Vasilis; Bairoch, Amos Marc; Tipton, Keith F; Nebert, Daniel W 1999
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Vitamin D supplementation during infancy is associated with higher bone mineral mass in prepubertal girls Zamora, Samuel Antonio; Rizzoli, René; Belli, Dominique Charles; Slosman, Daniel; Bonjour, Jean-Philippe 1999
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Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21 Antonarakis, Stylianos; Blouin, Jean-Louis; Lasseter, V. K.; Gehrig, Corinne; ... Pulver, A. E. 1999
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No evidence for linkage between schizophrenia and markers at chromosome 15q13-14 Curtis, L.; Blouin, Jean-Louis; Radhakrishna, U.; Gehrig, Corinne; ... Antonarakis, Stylianos 1999
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beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the gene encoding the basic helix-loop-helix transcription factor neurogenic differentiation 4 (NEUROD4) in Japanese patients with MODY. Horikawa, Yohko; Horikawa, Yukio; Cox, Nancy J.; Iwasaki, Naoko; ... Bell, Graeme I. 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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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion den Dunnen, J. T.; Antonarakis, Stylianos 2000
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Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein Michaud, J.; Kudoh, J.; Berry, A.; Bonne-Tamir, B.; ... Scott, Hamish Steele 2000
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Nomenclature for the description of human sequence variations den Dunnen, J. T.; Antonarakis, Stylianos 2001
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Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study Eliez, Stéphan; Antonarakis, Stylianos; Morris, Michael Andréw; Dahoun, S. P.; Reiss, A. L. 2001
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Chronic graft dysfunction in renal transplant patients: potential role of plasminogen activator inhibitor type 1 Lahlou, Anis; Peraldi, Marie-Noelle; Thervet, Eric; Flahault, Antoine; ... Rondeau, Eric 2002
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Genetic and environmental risk factors for oral anticoagulant overdose Verstuyft, C.; Robert, A.; Morin, S.; Loriot, Marie-Anne; ... Becquemont, L. 2003
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ATM gene alterations in childhood acute lymphoblastic leukemias Gumy Pause, Fabienne; Wacker, Pierre; Maillet, Philippe; Betts, David; Sappino, Pascal 2003
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The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion Lalioti, M. D.; Antonarakis, Stylianos; Scott, Hamish Steele 2003
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The Swiss-Prot variant page and the ModSNP database: a resource for sequence and structure information on human protein variants Yip Sonderegger, Yum Lina; Scheib, Holger; Diemand, Alexander; Gattiker, Alexandre; ... Bairoch, Amos Marc 2004
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The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study Felley, Christian; Morris, Michael Andréw; Wonkam, Ambroise; Hirschel, Bernard; ... Frossard, Jean-Louis 2004
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Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin Menzel, Olivier; Bekkeheien, R. C.; Reymond, Alexandre; Fukai, Naomi; ... Guipponi, Michel 2004
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Evolutionary comparison provides evidence for pathogenicity of RMRP mutations Bonafe, Luisa; Dermitzakis, Emmanouil; Unger, Sheila; Greenberg, C. R.; ... Reymond, Alexandre 2005
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A yeast-based assay reveals a functional defect of the Q488H polymorphism in human Hsp90alpha MacLean, Morag J.; Llordella, Marc Martínez; Bot, Nathalie; Picard, Didier 2005
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Polymorphisme génétique et interactions médicamenteuses: leur importance dans le traitement de la douleur Samer, Caroline Flora; Piguet, Valérie; Dayer, Pierre; Desmeules, Jules Alexandre 2005
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