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Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia Neerman Arbez, Marguerite; De Moerloose, Philippe; Bridel, C.; Honsberger, A.; ... Morris, Michael Andréw 2000
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Alpha-complemented beta-galactosidase. An in vivo model substrate for the molecular chaperone heat-shock protein 90 in yeast Abbas-Terki, Toufik; Picard, Didier 1999
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The CCR4 and CAF1 proteins of the CCR4-NOT complex are physically and functionally separated from NOT2, NOT4, and NOT5 Bai, Yongli; Salvadore, Christopher; Chiang, Yueh-Chin; Collart, Martine; ... Denis, Clyde L. 1999
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Circadian expression of the steroid 15 alpha-hydroxylase (Cyp2a4) and coumarin 7-hydroxylase (Cyp2a5) genes in mouse liver is regulated by the PAR leucine zipper transcription factor DBP Lavery, Daniel; Lopez Molina, Luis; Margueron, R; Fleury Olela, Fabienne; ... Bonfils, Catherine Marie-Louise 1999
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Le cancer colo-rectal héréditaire associé aux syndromes polyposiques Soravia, Claudio; Pocard, M 1999
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Le cancer colo-rectal héréditaire sans polyadénomatose associée Pocard, M; Soravia, Claudio 1999
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Altered cell-surface targeting of stem cell factor causes loss of melanocyte precursors in Steel17H mutant mice Wehrle-Haller, Bernhard; Weston, J A 1999
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Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies Peter, M; Dubuis, Jean-Michel Marie Maurice; Sippell, WG 1999
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Membrane interaction of TNF is not sufficient to trigger increase in membrane conductance in mammalian cells Van Der Goot Grunberg, Françoise G.; Pugin, Jérôme; Hribar, Marusa; Fransen, Lucie; ... Lucas, Rudolf 1999
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Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency Neerman Arbez, Marguerite; Johnson, K. M.; Morris, Michael Andréw; McVey, J. H.; ... Tuddenham, E. G. 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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Impact of drug resistance mutations on virologic response to salvage therapy. Swiss HIV Cohort Study Lorenzi, P.; Opravil, M.; Hirschel, Bernard; Chave, J. P.; ... Yerly Ferrillo, Sabine 1999
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Residual MHC class II expression on mature dendritic cells and activated B cells in RFX5-deficient mice Clausen, B. E.; Waldburger, Jean-Marc; Schwenk, F.; Barras, Emmanuele; ... Reith, Walter 1998
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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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Characterization of NOT5 that encodes a new component of the Not protein complex Oberholzer, Ursula; Collart, Martine 1998
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The effect of histidine-228 on the catalytic efficiency and stereospecificity of the serine hydroxymethyltransferase catalysed exchange of the alpha-protons of amino acids Fitzpatrick, Thérésa Bridget; Malthouse, J P 1998
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Genotype-phenotype correlations in attenuated adenomatous polyposis coli Soravia, Claudio; Berk, T; Madlensky, L; Mitri, A; ... Bapat, B 1998
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Induction of neonatal TH1 and CTL responses by live viral vaccines: a role for replication patterns within antigen presenting cells? Siegrist, Claire-Anne; Saddallah, F; Tougne, Chantal; Martinez, Javier; ... Lambert, Paul Henri 1998
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Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals Ries, S; Büchler, C; Schindler, G; Aslanidis, C; ... Schmitz, G 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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Introduction of the mec element (methicillin resistance) into Staphylococcus aureus alters in vitro functional activities of fibrinogen and fibronectin adhesins Vaudaux, Pierre; Monzillo, V.; Francois, Patrice; Lew, Daniel Pablo; ... Berger-Bachi, B. 1998
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Clumping factor B (ClfB), a new surface-located fibrinogen-binding adhesin of Staphylococcus aureus Ni Eidhin, D.; Perkins, S.; Francois, Patrice; Vaudaux, Pierre; ... Foster, T. J. 1998
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Identification of sequence variants and analysis of the role of the catechol-O-methyl-transferase gene in schizophrenia susceptibility Karayiorgou, M.; Gogos, J. A.; Galke, B. L.; Wolyniec, P. S.; ... Pulver, A. E. 1998
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Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity Mehenni, H.; Gehrig, Corinne; Nezu, J.; Oku, A.; ... Antonarakis, Stylianos 1998
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Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group Antonarakis, Stylianos 1998
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Mind the GAP, Rho, Rab and GDI Antonarakis, Stylianos; Van Aelst, L. 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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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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prl mutations in the Escherichia coli secG gene Bost, S.; Belin, Dominique 1997
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RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency Durand, Bénédicte; Sperisen, P.; Emery, P.; Barras, Emmanuele; ... Reith, Walter 1997
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Regulation of Escherichia coli cell envelope proteins involved in protein folding and degradation by the Cpx two-component system Pogliano, J.; Lynch, A. S.; Belin, Dominique; Lin, E. C.; Beckwith, J. 1997
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Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency Villard, Jean; Lisowska-Grospierre, B.; van den Elsen, P.; Fischer, A.; ... Mach, Bernard 1997
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The dipeptide repeat region of the fibrinogen-binding protein (clumping factor) is required for functional expression of the fibrinogen-binding domain on the Staphylococcus aureus cell surface Hartford, O. M.; Francois, Patrice; Vaudaux, Pierre; Foster, T. J. 1997
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Toxicity, efficacy, plasma drug concentrations and protease mutations in patients with advanced HIV infection treated with ritonavir plus saquinavir. Swiss HIV Cohort Study Lorenzi, P.; Yerly Ferrillo, Sabine; Abderrakim, K.; Fathi, Marc; ... Hirschel, Bernard 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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Mutation in GLI3 in postaxial polydactyly type A Radhakrishna, U.; Wild, A.; Grzeschik, K. H.; Antonarakis, Stylianos 1997
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Predictive value of codon 215 reverse transcriptase mutation on the efficacy of didanosine in HIV-infected, zidovudine-experienced patients Yerly Ferrillo, Sabine; Denereaz, N.; Mermillod, Bernadette; Hirschel, Bernard; Perrin, Luc 1996
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Position-effect variegation in Drosophila depends on dose of the gene encoding the E2F transcriptional activator and cell cycle regulator Seum, Carole; Spierer, Anne; Pauli, Daniel; Szidonya, Janos; ... Spierer, Pierre 1996
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The NOT, SPT3, and MOT1 genes functionally interact to regulate transcription at core promoters Collart, Martine 1996
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The Sendai paramyxovirus accessory C proteins inhibit viral genome amplification in a promoter-specific fashion Cadd, Tamarra Leigh; Garcin, Dominique; Tapparel, Caroline; Itoh, M; ... Kolakofsky, Daniel 1996
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Functional equivalence and rescue among group 11 Hox gene products in vertebral patterning Zakany, Jozsef; Gerard, Matthieu; Favier, B.; Potter, S.S.; Duboule, Denis 1996
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Mutational analysis of VAMP domains implicated in Ca2+-induced insulin exocytosis Regazzi, Romano; Sadoul, Karin; Meda, Paolo; Kelly, R. B.; ... Wollheim, Claes 1996
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The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS Wacey, A. I.; Kemball-Cook, G.; Kazazian, H. H.; Antonarakis, Stylianos; ... Tuddenham, E. G. 1996
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Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene Perrin, G.; Morris, Michael Andréw; Antonarakis, Stylianos; Boltshauser, E.; Hutter, Pierre 1996
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Tight regulation, modulation, and high-level expression by vectors containing the arabinose PBAD promoter Guzman, L. M.; Belin, Dominique; Carson, M. J.; Beckwith, J. 1995
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A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome) Steimle, Viktor; Durand, Bénédicte; Barras, Emmanuele; Zufferey, Madeleine; ... Reith, Walter 1995
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The A985G mutation in the medium-chain acyl-CoA dehydrogenase gene: high prevalence in the Swiss population resident in Geneva Conne, Béatrice; Zufferey, R.; Belin, Dominique 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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Role of Staphylococcus aureus coagulase and clumping factor in pathogenesis of experimental endocarditis Moreillon, Philippe; Entenza, J. M.; Francioli, Patrick; McDevitt, D.; ... Vaudaux, Pierre 1995
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Functional complementation of major histocompatibility complex class II regulatory mutants by the purified X-box-binding protein RFX Durand, Bénédicte; Kobr, M.; Reith, Walter; Mach, Bernard 1994
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