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 TitleAuthors / EditorsDate
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What is expanded in progressive myoclonus epilepsy? Lalioti, M. D.; Scott, Hamish Steele; Antonarakis, Stylianos 1997
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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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Variants in DNA double-strand break repair and DNA damage-response genes and susceptibility to lung and head and neck cancers Danoy, Patrick; Michiels, Stefan; Dessen, Philippe; Pignat, Cécile; ... Benhamou, Simone 2008
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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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Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions Howald, C.; Merla, Giuseppe; Digilio, M. C.; Amenta, S.; ... Reymond, Alexandre 2006
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Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation Bedard, Karen; Attar Cohen, Homa; Bonnefont, Jérôme; Jaquet, Vincent; ... Krause, Karl-Heinz 2009
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The vitamin D receptor gene bAt (CCA) haplotype impairs the response to pegylated-interferon/ribavirin-based therapy in chronic hepatitis C patients Baur, Katharina; Mertens, Joachim C; Schmitt, Johannes; Iwata, Rika; ... Rubbia-Brandt, Laura 2012
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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 SWISS-PROT protein sequence database: its relevance to human molecular medical research Bairoch, Amos Marc; Apweiler, Rolf 1997
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The SWISS-PROT protein sequence data bank: current status Bairoch, Amos Marc; Boeckmann, Brigitte 1994
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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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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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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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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 association of cytochrome P450 genetic polymorphisms with sulfolane formation and the efficacy of a busulfan-based conditioning regimen in pediatric patients undergoing hematopoietic stem cell transplantation Uppugunduri Satyanarayana, Chakradhara Rao; Rezgui, M; Diaz, PH; Tyagi, Anuj Kumar; ... Ansari Djaberi, Marc Georges 2014
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Telomere length and ApoE polymorphism in mild cognitive impairment, degenerative and vascular dementia Zekry Berger, Dina Selma; Herrmann, François; Irminger-Finger, Irmgard; Graf, Cristophe; ... Krause, Karl-Heinz 2010
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Simultaneous analysis of serotonin transporter, tryptophan hydroxylase 1 and 2 gene expression in the ventral prefrontal cortex of suicide victims Perroud, Nader Ali; Neidhart, Elizabeth; Petit, Brice; Vessaz, Monique; ... Guipponi, Michel 2010
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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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Rare genotype combination of the serotonin transporter gene associated with treatment response in severe personality disorder Perroud, Nader Ali; Salzmann, Annick; Saiz, Pilar A.; Baca-Garcia, Enrique; ... Malafosse, Alain 2010
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Psychological distress in fibromyalgia patients: a role for catechol-O-methyl-transferase Val158met polymorphism Desmeules, Jules Alexandre; Piguet, Valérie; Besson, Marie; Chabert, Jocelyne; ... Cedraschi, Christine 2012
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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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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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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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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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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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Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass Ferrari, Serge Livio; Deutsch, Samuel; Antonarakis, Stylianos 2005
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Particularités pharmacologiques du Tramadol chez l'enfant Saudan Frei, Sonja; Habre, Walid 2007
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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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Normal phenotype with paternal uniparental isodisomy for chromosome 21 Blouin, Jean-Louis; Avramopoulos, D.; Pangalos, C.; Antonarakis, Stylianos 1993
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Nomenclature for the description of human sequence variations den Dunnen, J. T.; Antonarakis, Stylianos 2001
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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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No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome Glaser, Bronwyn; Debbané, Martin; Hinard, Christine; Morris, Michael Andréw; ... Eliez, Stéphan 2006
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Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations Neerman Arbez, Marguerite; De Moerloose, Philippe 2007
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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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Mosquito genomics. Extensive introgression in a malaria vector species complex revealed by phylogenomics Fontaine, Michael C; Pease, James B; Steele, Aaron; Waterhouse, Robert; ... Besansky, Nora J 2015
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Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events Dahoun, Sophie; Gagos, Sarantis; Gagnebin, Maryline; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
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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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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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LRP5 gene polymorphisms and idiopathic osteoporosis in men Ferrari, Serge Livio; Deutsch, Samuel; Baudoin, C.; Cohen-Solal, M.; ... de Vernejoul, M. C. 2005
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Leptin and the sympathetic connection of fat to bone Hamrick, M W.; Ferrari, Serge Livio 2008
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Le concept de "resistance" a l'aspirine: mecanismes et pertinence clinique Reny, Jean-Luc; Bonvini, Robert; Barazer, I.; Berdague, P.; ... Fontana, Pierre 2009
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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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Lack of evidence for HLA-linked patterns of odorous carboxylic acids released from glutamine conjugates secreted in the human axilla Natsch, Andreas; Kuhn, Fabian; Tiercy, Jean-Marie 2010
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Lack of association between connexin40 polymorphisms and coronary artery disease Pfenniger, Anna; van der Laan, Sander W; Foglia, Bernard; Geindre, Sylvie Françoise; ... Kwak, Brenda 2012
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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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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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Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21 Lyle, Robert; Prandini, Paola; Osoegawa, Kazutoyo; ten Hallers, Boudewijn; ... Antonarakis, Stylianos 2007
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Influence of serotonin receptor 2A His452Tyr polymorphism on brain temporal structures: a volumetric MR study Filippini, Nicola; Scassellati, Catia; Boccardi, Marina; Pievani, Michela; ... Gennarelli, Massimo 2006
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Influence of GST gene polymorphisms on busulfan pharmacokinetics in children Ansari Djaberi, Marc Georges; Lauzon-Joset, J-F; Vachon, M-F; Duval, M.; ... Krajinovic, M. 2010
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Impact of genetic polymorphisms and drug-drug interactions on clopidogrel and prasugrel response variability Ancrenaz, Virginie; Daali, Youssef; Fontana, Pierre; Besson, M.; ... Desmeules, Jules Alexandre 2010
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