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A cohort study of treatment-experienced HIV-1-infected patients treated with raltegravir: factors associated with virological response and mutations selected at failure Marcelin, Anne-Geneviève; Delaugerre, Constance; Beaudoux, Céline; Descamps, Diane; ... Flandre, Philippe 2013
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A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1 Dirlewanger, Mijam; Huser, Delphine; Zennaro, Maria-Christina; Girardin, Eric; ... Schwitzgebel Luscher, Valérie 2011
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A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis Robert-Ebadi, Helia; Le Querrec, Agnès; De Moerloose, Philippe; Gandon-Laloum, Sylvie; ... Neerman Arbez, Marguerite 2008
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A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein Wattenhofer, Marie; Sahin-Calapoglu, Nilufer; Andreasen, Ditte; Kalay, Ersan; ... Antonarakis, Stylianos 2005
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An invariant surface patch on the TRIM5alpha PRYSPRY domain is required for retroviral restriction but dispensable for capsid binding Sebastian, Sarah; Grutter, Christian; Strambio de Castillia, Caterina; Pertel, Thomas; ... Luban, Jeremy 2009
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Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome Deutsch, Samuel; Rideau, Alexandra; Bochaton-Piallat, Marie-Luce; Merla, Giuseppe; ... Beris, Photis 2003
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Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report Jenny, Benoît John; Radovanovic, Ivan; Haenggeli, Charles-Antoine; Delavelle, Jacqueline; ... Rilliet, Bénédict 2007
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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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Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion Vu, Dung; Bolton-Maggs, P. H.; Parr, J. R.; Morris, Michael Andréw; ... Neerman Arbez, Marguerite 2003
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Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient rimella-le huu, a; Henry, H; Kern, Ilse; Hanquinet, Sylviane; ... Ballhausen, D 2008
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DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects Hornef, Nada; Olbrich, Heike; Horvath, Judit; Zariwala, M. A.; ... Omran, Heymut 2006
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Fibrinogen gamma375 arg-->trp mutation (fibrinogen aguadilla) causes hereditary hypofibrinogenemia, hepatic endoplasmic reticulum storage disease and cirrhosis Rubbia-Brandt, Laura; Neerman Arbez, Marguerite; Rougemont, A. L.; Male, P. J.; Spahr, Laurent 2006
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Fibrinogen Krakow: a novel hypo/dysfibrinogenemia mutation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function Undas, Anetta; Zdziarska, Joanna; Iwaniec, Teresa; Stepien, Ewa; ... Neerman Arbez, Marguerite 2009
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Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia Tchou, Isabelle; Diepold, Myriam; Pilotto, P. A.; Swinkels, Dorine; ... Beris, Photis 2009
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HIV-1 integrase variability and relationship with drug resistance in antiretroviral-naive and -experienced patients with different HIV-1 subtypes Reigadas, S; Marcelin, A G; Houssaïni, A; Yerly Ferrillo, Sabine; ... Masquelier, B 2013
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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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Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion Vu, Dung; De Moerloose, Philippe; Batorova, A.; Lazur, J.; ... Neerman Arbez, Marguerite 2005
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Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency Tirefort, Yordanka; Uhr, Mario R; Neerman Arbez, Marguerite; De Moerloose, Philippe 2012
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Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects Miesbach, Wolfgang; Scharrer, Inge; Henschen, Agnes; Neerman Arbez, Marguerite; ... Galanakis, Dennis 2010
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Limited clinical benefit of minority K103N and Y181C-variant detection in addition to routine genotypic resistance testing in antiretroviral therapy-naive patients Metzner, Karin J; Scherrer, Alexandra U; von Wyl, Viktor; Böni, Jürg; ... Günthard, Huldrych F 2014
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LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes Mehenni, Hamid; Lin-Marq, Nathalie; Buchet-Poyau, Karine; Reymond, Alexandre; ... Antonarakis, Stylianos 2005
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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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Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail Stasia, Marie José; Lardy, Bernard; Maturana, Andrés; Rousseau, Pascale; ... Morel, Françoise 2002
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Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite 2012
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Mutations in GJB6 cause hidrotic ectodermal dysplasia Lamartine, J.; Munhoz Essenfelder, G.; Kibar, Z.; Lanneluc, I.; ... Waksman, G. 2000
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Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia Bartoloni, Lucia; Blouin, Jean-Louis; Pan, Yanzhen; Gehrig, Corinne; ... Antonarakis, Stylianos 2002
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Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness Ben-Yosef, T.; Wattenhofer, M.; Riazuddin, S.; Ahmed, Z. M.; ... Morell, R. J. 2001
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Polymorphisms in multidrug resistance-associated protein gene 4 is associated with outcome in childhood acute lymphoblastic leukemia Ansari Djaberi, Marc Georges; Sauty, Géraldine; Labuda, Malgorzata; Gagné, Vincent; ... Krajinovic, Maja 2009
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Primary immunodeficiency mutation databases Vihinen, M.; Arredondo-Vega, F. X.; Casanova, J. L.; Etzioni, A.; ... Smith, C. I. 2001
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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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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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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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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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Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) Roessler, E.; Mittaz, L.; Du, Y.; Scott, Hamish Steele; ... Antonarakis, Stylianos 1999
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The cytotoxic T lymphocyte protease granzyme A cleaves and inactivates poly(adenosine 5'-diphosphate-ribose) polymerase-1 Zhu, Pengcheng; Martinvalet, Denis; Chowdhury, Dipanjan; Zhang, Dong; ... Lieberman, Judy 2009
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The influenza virus protein PB1-F2 inhibits the induction of type I interferon at the level of the MAVS adaptor protein Varga, Zsuzsanna T; Ramos, Irene; Hai, Rong; Schmolke, Mirco; ... Palese, Peter 2011
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The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus Boda, Bernadett; Alberi, Stefano; Nikonenko, Irina; Nodé-Langlois, Roxanne; ... Muller, Dominique 2004
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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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To aggregate or not to aggregate Neerman Arbez, Marguerite 2007
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Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1 Bottani, Armand; Orrico, Alfredo; Galli, Lucia; Karam, Oliver Laurent; ... Conrad, Bernard 2007
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αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia Buitrago, Lorena; Rendon, Augusto; Liang, Yupu 2015