| | Title | Authors / Editors | Date |
|
unige:127542 |
Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes |
Stekelenburg, Caroline; Gerster, Karine; Blouin, Jean-Louis; Lang-Muritano, Mariarosaria; ... Schwitzgebel Luscher, Valérie |
2019 |
|
unige:99565 |
Imipenem heteroresistance in nontypeable Haemophilus influenzae is linked to a combination of altered PBP3, slow drug influx and direct efflux regulation |
Cherkaoui, Abdessalam; Diene, S M; Renzoni, Adriana Maria; Emonet, Stéphane; ... Schrenzel, Jacques |
2017 |
|
unige:76387 |
A single amino acid substitution in the novel H7N9 influenza A virus NS1 protein increases CPSF30 binding and virulence |
Ayllon, Juan; Domingues, Patricia; Rajsbaum, Ricardo; Miorin, Lisa; ... García-Sastre, Adolfo |
2014 |
|
unige:34642 |
Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes |
Popadin, Konstantin; Nikolaev, Sergey Igorievich; Junier, Thomas; Baranova, Maria; Antonarakis, Stylianos |
2013 |
|
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:36375 |
Structural basis for polyadenosine-RNA binding by Nab2 Zn fingers and its function in mRNA nuclear export |
Brockmann, Christoph; Soucek, Sharon; Kuhlmann, Sonja I.; Mills-Lujan, Katherine; ... Stewart, Murray |
2012 |
|
unige:30560 |
Identification of site-specific adaptations conferring increased neural cell tropism during human enterovirus 71 infection |
Cordey, Samuel; Petty Ii, Thomas John; Schibler, Manuel; Martinez, Yannick; ... Tapparel, Caroline |
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:79941 |
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia |
Kannengiesser, Caroline; Sanchez, Mayka; Sweeney, Marion; Hetet, Gilles; ... May, Alison |
2011 |
|
unige:100196 |
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations |
Ducamp, Sarah; Kannengiesser, Caroline; Touati, Mohamed; Garçon, Loïc; ... Grandchamp, Bernard |
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:21208 |
COMT but not serotonin-related genes modulates the influence of childhood abuse on anger traits |
Perroud, Nader Ali; Jaussent, I.; Guillaume, Sébastien; Bellivier, F.; ... Courtet, P. |
2010 |
|
unige:20997 |
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 |
|
unige:20617 |
Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling |
Chen, Edwin; Beer, Philip A.; Godfrey, Anna L.; Ortmann, Christina A.; ... Green, Anthony R. |
2010 |
|
unige:17486 |
Residues in SRP9/14 essential for elongation arrest activity of the signal recognition particle define a positively charged functional domain on one side of the protein |
Mary, Camille; Scherrer, Anne Paule Marie; Huck, Laurent; Lakkaraju, Asvin Krishna Kumar; ... Strub, Katharina |
2010 |
|
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:19886 |
Sequence of a novel HLA-A2 allele in a haematopoietic stem cell donor of the international registry |
Kervaire, B.; Schmidt, A. H.; Villard, Jean; Tiercy, Jean-Marie |
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:2540 |
Interaction between BDNF Val66Met and childhood trauma on adult's violent suicide attempt |
Perroud, N.; Courtet, P.; Vincze, Ilona; Jaussent, I.; ... Malafosse, Alain |
2008 |
|
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:2415 |
A new HLA-DR4 allele, DRB1*0474, with an unusual residue at position 77 |
Desaules, Claire-Anne; Villard, Jean; Tiercy, Jean-Marie |
2008 |
|
unige:19016 |
Modifier effects between regulatory and protein-coding variation |
Dimas, Antigone S.; Stranger, Barbara E.; Beazley, Claude; Finn, Robert D.; ... Dermitzakis, Emmanouil |
2008 |
|
unige:13117 |
Sch9 is a major target of TORC1 in Saccharomyces cerevisiae |
Urban, Jörg; Soulard, Alexandre; Huber, Alexandre; Lippman, Soyeon; ... Loewith, Robbie |
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:26615 |
Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies |
van Leeuwen, F W; van Tijn, P; Sonnemans, M A F; Hobo, B; ... Fischer, D F |
2006 |
|
unige:81203 |
Unique substrate specificity of anaplastic lymphoma kinase (ALK): development of phosphoacceptor peptides for the assay of ALK activity |
Donella-Deana, Arianna; Marin, Oriano; Cesaro, Luca; Gunby, Rosalind H.; ... Pinna, Lorenzo A. |
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:4581 |
A yeast-based assay reveals a functional defect of the Q488H polymorphism in human Hsp90alpha |
MacLean, Morag J.; Llordella, Marc Martínez; Bot, Nathalie; Picard, Didier |
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:8744 |
Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites |
Ferrari, Serge Livio; Deutsch, Samuel; Choudhury, Urmila; Chevalley, Thierry; ... Antonarakis, Stylianos |
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:8828 |
Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse |
Izumi, Tetsuro; Yokota-Hashimoto, Hiromi; Zhao, Shengli; Wang, Jie; ... Takeuchi, Toshiyuki |
2003 |
|
unige:90658 |
An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events |
Hamer, Isabelle; Foti, Michelangelo; Emkey, R; Cordier-Bussat, M; ... Carpentier, J-L |
2002 |
|
unige:56147 |
Hypothesis for generation of the unstable Hb Bucuresti (beta 42 Phe-->Leu) mutation |
Von Planta, Maya; Humbert, James Ronald; Wacker, Pierre; Rimensberger, Peter; ... Beris, Photis |
2001 |
|
unige:8714 |
Nomenclature for the description of human sequence variations |
den Dunnen, J. T.; Antonarakis, Stylianos |
2001 |
|
unige:17514 |
Hierarchical assembly of the Alu domain of the mammalian signal recognition particle |
Weichenrieder, O; Stehlin, C; Kapp, U; Birse, D E; ... Cusack, S |
2001 |
|
unige:8849 |
Mutations in GJB6 cause hidrotic ectodermal dysplasia |
Lamartine, J.; Munhoz Essenfelder, G.; Kibar, Z.; Lanneluc, I.; ... Waksman, G. |
2000 |
|
unige:11168 |
Both transmembrane domains of SecG contribute to signal sequence recognition by the Escherichia coli protein export machinery |
Bost, S.; Silva, Filo; Rudaz, C.; Belin, Dominique |
2000 |
|
unige:75374 |
High-throughput mass spectrometric discovery of protein post-translational modifications |
Wilkins, Marc; Gasteiger, Elisabeth; Gooley, Andrew A; Herbert, Ben R; ... Hochstrasser, Denis |
1999 |
|
unige:74566 |
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 |
Amino acid substitution
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