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Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes Eliez, Stéphan; Palacio-Espasa, Francisco; Spira, A.; Lacroix, M.; ... Cramer, B. 2000
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YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome Nadal, M.; Mila, M.; Pritchard, M.; Mur, A.; ... Estivill, X. 1996
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Xenopus Meis3 protein lies at a nexus downstream to Zic1 and Pax3 proteins, regulating multiple cell-fates during early nervous system development Gutkovich, Yoni E.; Ofir, Rachel; Elkouby, Yaniv M.; Dibner, Charna; ... Frank, Dale 2010
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Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase Micale, Lucia; Fusco, Carmela; Augello, Bartolomeo; Napolitano, Luisa M. R.; ... Reymond, Alexandre 2008
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Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31 Villanueva, Adda; Willer, Jason R; Bryois, Julien; Dermitzakis, Emmanouil; ... Davis, Erica E 2014
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VTA DA neuron excitatory synapses in Shank3 Δex4-9 mouse line Bariselli, Sebastiano; Bellone, Camilla 2017
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Urokinase-type plasminogen activator and its receptor synergize to promote pathogenic proteolysis Zhou, Hong-Ming; Nichols, Anthony; Meda, Paolo; Vassalli, Jean-Dominique 2000
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Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference Young, Alexandra L; Marinescu, Razvan V; Oxtoby, Neil P; Bocchetta, Martina; ... Alexander, Daniel C 2018
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Two regulatory levels of transcriptional gene silencing in Arabidopsis Mittelsten Scheid, Ortrun; Probst, Aline V.; Afsar, Karin; Paszkowski, Jerzy 2002
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Two colons-two cancers: paradigm shift and clinical implications Gervaz, Pascal; Bucher, Pascal Alain Robert; Morel, Philippe 2004
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Tumour necrosis factor alpha confers an invasive, transformed phenotype on mammary epithelial cells Montesano, Roberto; Soulie, Priscilla; Eble, Johannes A.; Carrozzino, Fabio 2005
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Treatment of congenital fibrinogen disorders De Moerloose, Philippe; Neerman Arbez, Marguerite 2008
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Transgenerational stability of the Arabidopsis epigenome is coordinated by CG methylation Mathieu, Olivier; Reinders, Jon; Caikovski, Marian; Smathajitt, Chotika; Paszkowski, Jerzy 2007
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Tracing HIV-1 transmission: envelope traits of HIV-1 transmitter and recipient pairs Oberle, Corinna S; Joos, Beda; Rusert, Peter; Campbell, Nottania K; ... Günthard, Huldrych F 2016
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Toward a NOTCH1/FBXW7/RAS/PTEN-based oncogenetic risk classification of adult T-cell acute lymphoblastic leukemia: a Group for Research in Adult Acute Lymphoblastic Leukemia study Trinquand, Amélie; Tanguy-Schmidt, Aline; Ben Abdelali, Raouf; Lambert, Jérôme; ... Asnafi, Vahid 2013
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Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype Dayer, Romain Olivier Pierre; Ceroni, Dimitri; Bottani, Armand; Kaelin, André 2007
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The TATA-binding protein-associated factor yTafII19p functionally interacts with components of the global transcriptional regulator Ccr4-Not complex and physically interacts with the Not5 subunit Lemaire, Marc; Collart, Martine 2000
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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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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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The molecular chaperone Hsp90alpha is required for meiotic progression of spermatocytes beyond pachytene in the mouse Grad, Iwona; Cederroth, Christopher; Walicki, Joël Jonathan; Grey, Corinne; ... Picard, Didier 2010
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The fibronectin domain ED-A is crucial for myofibroblastic phenotype induction by transforming growth factor-beta1 Serini, G.; Bochaton-Piallat, Marie-Luce; Ropraz, Patricia; Geinoz, Antoine; ... Gabbiani, Giulio 1998
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The essential function of Not1 lies within the Ccr4-Not complex Maillet, Laurent Jean Marie; Tu, Chi; Hong, Y K; Shuster, E O; Collart, Martine 2000
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The Elephant in the Room: The Role of Microtubules in Cancer Cirillo, Luca; Gotta, Monica; Meraldi, Patrick 2017
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The effects of CYP2D6 and CYP3A activities on the pharmacokinetics of immediate release oxycodone Samer, Caroline Flora; Daali, Youssef; Wagner, M.; Hopfgartner, Gerard; ... Desmeules, Jules Alexandre 2010
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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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The Brisbane Systems Genetics Study: genetical genomics meets complex trait genetics Powell, Joseph E; Henders, Anjali K; McRae, Allan F; Caracella, Anthony; ... Montgomery, Grant W 2012
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The architecture of gene regulatory variation across multiple human tissues: the MuTHER study Nica, Alexandra; Parts, Leopold; Glass, Daniel; Nisbet, James; ... Spector, Timothy D 2011
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The AmpliChip CYP450 test: cytochrome P450 2D6 genotype assessment and phenotype prediction Rebsamen, M C.; Desmeules, Jules Alexandre; Daali, Youssef; Chiappe, A.; ... Rossier, M. F. 2009
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TGFbeta directs gene expression of activated microglia to an anti-inflammatory phenotype strongly focusing on chemokine genes and cell migratory genes Paglinawan, Rey; Malipiero, Ursula; Schlapbach, Ralph; Frei, Karl; ... Fontana, Adriano 2003
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Testis determination requires insulin receptor family function in mice Nef, Serge; Verma-Kurvari, Sunita; Merenmies, Jussi; Vassalli, Jean-Dominique; ... Parada, Luis F. 2003
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Targeting connexin 43 prevents platelet-derived growth factor-BB-induced phenotypic change in porcine coronary artery smooth muscle cells Chadjichristos, Christos E.; Morel, Sandrine; Derouette, Jean-Paul; Sutter, Dominique; ... Kwak, Brenda 2008
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Targeted mutation of zebrafish fga models human congenital afibrinogenemia Fish, Richard; Di Sanza, Corinne; Neerman Arbez, Marguerite 2014
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Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients Martinet, Danielle; Filges, Isabel; Besuchet Schmutz, Nathalie; Morris, Michael Andréw; ... Bena, Frédérique 2008
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Structure-function analyses of the Ssc1p, Mdj1p, and Mge1p Saccharomyces cerevisiae mitochondrial proteins in Escherichia coli Deloche, Olivier; Kelley, William; Georgopoulos, C. 1997
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Stochasticité : la troisième variable Giacobino, Ariane 2013
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stand still, a Drosophila gene involved in the female germline for proper survival, sex determination and differentiation Pennetta, Giuseppa Léonarda; Pauli, Daniel 1997
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Splicing factor SF3a60 is the mammalian homologue of PRP9 of S.cerevisiae: the conserved zinc finger-like motif is functionally exchangeable in vivo Kraemer, Angela; Legrain, P; Mulhauser, Frank; Groening, Karsten Johannes; ... Bilbe, G 1994
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SNPs and other features as they predispose to complex disease: genome-wide predictive analysis of a quantitative phenotype for hypertension Won, Joong-Ho; Ehret, Georg Benedikt; Chakravarti, Aravinda; Olshen, Richard A 2011
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Silencing of the hydra serine protease inhibitor Kazal1 gene mimics the human SPINK1 pancreatic phenotype Chera, Simona; De Rosa, Renaud; Miljkovic-Licina, Marijana; Dobretz, Kevin; ... Galliot, Brigitte 2006
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Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa Duncan, Laramie; Yilmaz, Zeynep; Gaspar, Helena; Walters, Raymond; ... Bulik, Cynthia M 2017
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Sex-biased genetic effects on gene regulation in humans Dima, Antigoni; Nica, Alexandra; Montgomery, Stephen; Stranger, Barbara E; ... Dermitzakis, Emmanouil 2012
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Severe bleeding and miscarriages in a hypofibrinogenemic woman heterozygous for the gamma Ala82Gly mutation Zdziarska, Joanna; Undas, Anetta; Basa, Joanna; Iwaniec, Teresa; ... Neerman Arbez, Marguerite 2009
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Serum Osteopontin Levels Are Decreased in Focal Adenomyosis Streuli, Marie Isabelle; Santulli, Pietro; Chouzenoux, Sandrine; Chapron, Charles; Batteux, Frédéric 2017
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Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy Lange, Christian M; Kutalik, Zoltan; Morikawa, Kenichi; Bibert, Stéphanie; ... Bochud, Pierre-Yves 2012
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Sequential implication of the mental retardation proteins ARHGEF6 and PAK3 in spine morphogenesis Nodé-Langlois, Roxanne; Muller, Dominique; Boda, Bernadett 2006
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Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype Clot, Fabienne; Grabli, David; Burbaud, Pierre; Aya, Magali; ... Brice, Alexis 2011
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RNAi gene silencing affects cell and developmental plasticity in hydra Galliot, Brigitte; Miljkovic-Licina, Marijana; Ghila, Luiza Mihaela.; Chera, Simona 2007
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Ribosome protection prevents azithromycin-mediated quorum-sensing modulation and stationary-phase killing of Pseudomonas aeruginosa Kohler, Thilo; Dumas, Jean-Luc Claude; Van Delden, Christian 2007
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Reversal of cocaine-evoked synaptic potentiation resets drug-induced adaptive behaviour Pascoli, Vincent Jean; Turiault, Marc; Luescher, Christian 2012
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Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children Ozen, Seza; Demirkaya, Erkan; Amaryan, Gayane; Koné-Paut, Isabelle; ... Gattorno, Marco 2014
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