| | Title | Authors / Editors | Date |
|
unige:83343 |
αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia |
Buitrago, Lorena; Rendon, Augusto; Liang, Yupu |
2015 |
|
unige:74401 |
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 |
|
unige:74512 |
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 |
|
unige:73681 |
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 |
|
unige:32312 |
Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia |
Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite |
2012 |
|
unige:32314 |
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 |
|
unige:32871 |
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 |
|
unige:75390 |
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 |
|
unige:25735 |
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 |
|
unige:8901 |
Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects |
Miesbach, Wolfgang; Scharrer, Inge; Henschen, Agnes; Neerman Arbez, Marguerite; ... Galanakis, Dennis |
2010 |
|
unige:9051 |
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 |
|
unige:9061 |
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 |
|
unige:5480 |
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 |
|
unige:20097 |
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 |
|
unige:19613 |
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 |
|
unige:43455 |
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 |
|
unige:1432 |
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 |
|
unige:44116 |
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 |
|
unige:8925 |
To aggregate or not to aggregate |
Neerman Arbez, Marguerite |
2007 |
|
unige:44539 |
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 |
|
unige:43113 |
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 |
|
unige:9006 |
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 |
|
unige:8814 |
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 |
|
unige:9080 |
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 |
|
unige:9094 |
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 |
|
unige:8743 |
LRP5 gene polymorphisms and idiopathic osteoporosis in men |
Ferrari, Serge Livio; Deutsch, Samuel; Baudoin, C.; Cohen-Solal, M.; ... de Vernejoul, M. C. |
2005 |
|
unige:8754 |
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 |
|
unige:4582 |
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 |
|
unige:36659 |
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 |
|
unige:10198 |
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 |
|
unige:8705 |
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 |
|
unige:38346 |
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 |
|
unige:9079 |
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 |
|
unige:8725 |
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 |
|
unige:8626 |
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 |
|
unige:30346 |
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 |
|
unige:10993 |
Primary immunodeficiency mutation databases |
Vihinen, M.; Arredondo-Vega, F. X.; Casanova, J. L.; Etzioni, A.; ... Smith, C. I. |
2001 |
|
unige:8638 |
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 |
|
unige:73868 |
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 |
|
unige:8849 |
Mutations in GJB6 cause hidrotic ectodermal dysplasia |
Lamartine, J.; Munhoz Essenfelder, G.; Kibar, Z.; Lanneluc, I.; ... Waksman, G. |
2000 |
|
unige:9000 |
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 |
Mutation, missense
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