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The CRF neurosecretory vesicle: vasopressin-dependent changes in vesicle size after adrenalectomy Kiss, Jozsef Zoltan; Bertini, L. T. 1992
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The dose of a putative ubiquitin-specific protease affects position-effect variegation in Drosophila melanogaster Henchoz, Sandra; De Rubertis, Francesco; Pauli, Daniel; Spierer, Pierre 1996
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The DBP gene is expressed according to a circadian rhythm in the suprachiasmatic nucleus and influences circadian behavior Lopez Molina, Luis; Conquet, F; Dubois-Dauphin, Michel; Schibler, Ulrich 1997
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Chromatin insulator elements block the silencing of a target gene by the Drosophila polycomb response element (PRE) but allow trans interactions between PREs on different chromosomes Sigrist, Christian; Pirrotta, Vincenzo 1997
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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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Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor Pralong, François Pierre; Gomez, François; Castillo Salgado, Einar Eugenio; Cotecchia, S; ... Gaillard, Rolf Christian 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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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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The mouse Hoxd13spdh mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes Bruneau, Sylvia; Johnson, Kenneth R.; Yamamoto, Masakazu; Kuroiwa, Atsushi; Duboule, Denis 2001
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Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319 Prella, M.; Baccala, R.; Horisberger, J. D.; Belin, Dominique; ... Schapira, Marc 2001
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Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain De Moerloose, Philippe; Germanos-Haddad, Myrna; Boehlen, Françoise; Neerman Arbez, Marguerite 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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Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor Landau, Ruth; Morales, M. A.; Antonarakis, Stylianos; Blouin, Jean-Louis; Smiley, R. M. 2005
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Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency Germanos-Haddad, Myrna; De Moerloose, Philippe; Boehlen, Françoise; Peyvandi, Flora; Neerman Arbez, Marguerite 2005
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Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function Marthinet, Eric; Bloc, Alain André Leon; Oka, Yoshimoto; Tanizawa, Yukio; ... Schwitzgebel Luscher, Valérie 2005
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Dominant-negative effects of a novel mutated Ins2 allele causes early-onset diabetes and severe beta-cell loss in Munich Ins2C95S mutant mice Herbach, Nadja; Rathkolb, Birgit; Kemter, Elisabeth; Pichl, Lisa; ... Wanke, Ruediger 2007
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Are parkin patients particularly suited for deep-brain stimulation? Lohmann, Ebba; Welter, Marie-Laure; Fraix, Valerie; Krack, Paul; ... Brice, Alexis 2008
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HLA-Bw4 homozygosity is associated with an impaired CD4 T cell recovery after initiation of antiretroviral therapy Rauch, Andri; Nolan, David; Furrer, Hansjakob; McKinnon, Elizabeth; ... James, Ian 2008
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A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream Robert-Ebadi, Helia; De Moerloose, Philippe; El Khorassani, M.; El Khattab, M.; Neerman Arbez, Marguerite 2009
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Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome Harambat, Jerome; Fargue, Sonia; Acquaviva, Cecile; Gagnadoux, Marie-France; ... Cochat, Pierre 2010
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