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A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients Rosatelli, M. C.; Meloni, A.; Devoto, M.; Cao, A.; ... Antonarakis, Stylianos 1998
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A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3 Sertie, A. L.; Quimby, M.; Moreira, E. S.; Murray, J.; ... Passos-Bueno, M. R. 1996
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A linkage disequilibrium map of the MHC region based on the analysis of 14 loci haplotypes in 50 French families Sanchez-Mazas, Alicia; Djoulah, S.; Busson, M.; Le Monnier de Gouville, I.; ... Hors, J. 2000
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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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A study of Gm allotypes and immunoglobulin heavy gamma IGHG genes in Berbers, Arabs and sub-Saharan Africans from Jerba Island, Tunisia Loveslati, B Y.; Sanchez-Mazas, Alicia; Ennafaa, H.; Marrakchi, R.; ... Elgaaied, A B. 2001
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A whole-genome association study of major determinants for host control of HIV-1 Fellay, Jacques; Shianna, K. V.; Ge, Dongliang; Colombo, Sara; ... Goldstein, D. B. 2007
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A worldwide population study of the Ag-system haplotypes, a genetic polymorphism of human low-density lipoprotein Breguet, Georges; Bütler, R.; Bütler-Brunner, E.; Sanchez-Mazas, Alicia 1990
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An apportionment of human HLA diversity Sanchez-Mazas, Alicia 2007
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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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Arylamine N-Acetyltransferases in Anthropology Sabbagh, Audrey; Darlu, Pierre; Vangenot, Christelle; Poloni, Estella S. 2018
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Association of a common vitamin D-binding protein polymorphism with inflammatory bowel disease Eloranta, Jyrki J; Wenger, Christa; Mwinyi, Jessica; Hiller, Christian; ... Kullak-Ublick, Gerd A 2011
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Autoimmune T lymphocytes in myasthenia gravis : determination of target epitopes using T lines and recombinant products of the mouse nicotinic acetylcholine receptor gene Melms, A.; Chrestel, S.; Schalke, B.C.; Wekerle, H.; ... Barkas, T. 1989
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Biased allelic expression in human primary fibroblast single cells Borel, Christelle; Ferreira Marinheiro, Pedro; Santoni, Federico; Delaneau, Olivier; ... Antonarakis, Stylianos 2015
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BRD2 and TAP-1 genes and juvenile myoclonic epilepsy Layouni, Samia; Buresi, Catherine; Thomas, Pierre; Malafosse, Alain; Dogui, Mohamed 2010
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Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping Kibar, Z.; Dube, M. P.; Powell, J.; McCuaig, C.; ... Rouleau, G. A. 2000
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Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins Scott, Hamish Steele; Heino, M.; Peterson, P.; Mittaz, L.; ... Antonarakis, Stylianos 1998
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Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains Adams, D. J.; Dermitzakis, Emmanouil; Cox, Tony; Smith, James; ... Bradley, Allan 2005
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Control of separate pathogenic autoantibody responses marks MHC gene contributions to murine lupus Vyse, T. J.; Halterman, R. K.; Rozzo, S. J.; Izui, Shozo; Kotzin, B. L. 1999
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Dimorphism of TAP-1 gene in Caucasian with juvenile myoclonic epilepsy and in Tunisian with idiopathic generalized epilepsies Layouni, S.; Chouchane, L.; Malafosse, Alain; Dogui, M. 2010
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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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Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis Naveed, Mohammed; Al-Ali, M. T.; Murthy, S. K.; Al-Hajali, Sarah; ... Radhakrishna, Uppala 2006
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Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B Wiszniewski, W.; Fondaneche, M. C.; Lambert, N.; Masternak, Krzysztof; ... Lisowska-Grospierre, B. 2000
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Gene expression levels are a target of recent natural selection in the human genome Kudaravalli, Sridhar; Veyrieras, Jean-Baptiste; Stranger, Barbara E.; Dermitzakis, Emmanouil; Pritchard, Jonathan K. 2009
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Genetic differentiation of Yemeni people according to rhesus and Gm polymorphisms Chaabani, H.; Sanchez-Mazas, Alicia; Sallami, S. F. 2000
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Genetic diversity in Tunisia: a study based on the GM polymorphism of human immunoglobulins Fadhlaoui-Zid, Karima; Dugoujon, Jean-Michel; Elgaaied, Amel; Ben Amor, Mohamed; ... Sanchez-Mazas, Alicia 2004
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Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association study Rauch, Andri; Kutalik, Zoltan; Descombes, Patrick; Cai, Tao; ... Bochud, Pierre-Yves 2010
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Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele Radhakrishna, Uppala; Nath, Swapan K; McElreavey, Ken; Ratnamala, Uppala; ... Butler, Merlin G 2012
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Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1 Naveed, Mohammed; Nath, S. K.; Gaines, Mathew; Al-Ali, M. T.; ... Radhakrishna, Uppala 2007
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Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34 Radhakrishna, Uppala; Ratnamala, Uppala; Gaines, Mathew; Beiraghi, Soraya; ... Nath, S. K. 2006
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Genotype-based test in mapping cis-regulatory variants from allele-specific expression data Lefebvre, Jean Francois; Vello, Emilio; Ge, Bing; Montgomery, Stephen; ... Labuda, Damian 2012
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Glutathione S-transferase gene variations influence BU pharmacokinetics and outcome of hematopoietic SCT in pediatric patients Ansari Djaberi, Marc Georges; Rezgui, MA; Théoret, Y; Uppugunduri Satyanarayana, Chakradhara Rao; ... Krajinovic, M 2013
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H-2D haplotype-linked expression and involvement of TNF-alpha in Th2 cell-mediated tissue inflammation Mueller, Kai Michael; Lisby, Steen; Arrighi, Jean-François; Grau, Georges; ... Hauser, Conrad 1994
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Haplotype diversity generated by ancient recombination-like events in the MHC of Indian rhesus macaques Doxiadis, Gaby G M; de Groot, Nanine; Otting, Nel; de Vos-Rouweler, Annemiek J M; ... Bontrop, Ronald E 2013
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Haplotype-based banking of human pluripotent stem cells for transplantation: potential and limitations Zimmermann, Anna; Preynat-Seauve, Olivier; Tiercy, Jean-Marie; Krause, Karl-Heinz; Villard, Jean 2012
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High-allelic variability in HLA-C mRNA expression: association with HLA-extended haplotypes Bettens, F; Brunet, L; Tiercy, Jean-Marie 2014
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HLA class II DRB1, DQA1 and DQB1 polymorphisms in the Polish population from Wielkopolska Jungerman, M; Sanchez-Mazas, Alicia; Fichna, P; Ivanova, R; ... Djoulah, S 1997
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HLA class II genetic diversity in southern Tunisia and the Mediterranean area Abdennaji Guenounou, B.; Loueslati, B Yacoubi; Buhler, Stéphane; Hmida, S.; ... Sanchez-Mazas, Alicia 2006
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HLA class II polymorphism in Aka Pygmies and Bantu Congolese and a reassessment of HLA-DRB1 African diversity Renquin, Johan; Sanchez-Mazas, Alicia; Halle, L.; Rivalland, S.; ... Kaplan, C. 2001
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HLA-A-B-C-DRB1-DQB1 phased haplotypes in 124 Nigerian families indicate extreme HLA diversity and low linkage disequilibrium in Central-West Africa Testi, M; Battarra, M; Lucarelli, G; Isgro, A; ... Sanchez-Mazas, Alicia 2015
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HMOX1 and GST variants modify attenuation of FEF25-75% decline due to PM10 reduction Curjuric, I.; Imboden, M.; Schindler, C.; Downs, S. H.; ... Probst-Hensch, N. M. 2010
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Identification of VPS35 mutations replicated in French families with Parkinson disease Lesage, S; Condroyer, C; Klebe, S; Honoré, A; ... Brice, A 2012
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In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis Michaud, Joelle; Wu, Feng; Osato, Motomi; Cottles, G. M.; ... Scott, Hamish Steele 2002
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Induction of diabetes is influenced by the infectious virus and local expression of MHC class I and tumor necrosis factor-alpha Ohashi, P. S.; Oehen, S.; Aichele, P.; Pircher, H.; ... Zinkernagel, R. M. 1993
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Influence of ABCB1 gene polymorphisms and P-glycoprotein activity on cyclosporine pharmacokinetics in peripheral blood mononuclear cells in healthy volunteers Ansermot, Nicolas; Rebsamen, Michela; Chabert, Jocelyne; Fathi, Marc; ... Desmeules, Jules Alexandre 2008
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Interethnic genetic differentiation : GM polymorphism in Eastern Senegal Blanc, Madeleine; Sanchez-Mazas, Alicia; Hubert Van Blyenburgh, Ninian; Sevin, André; ... Langaney, André 1990
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Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin Menzel, Olivier; Bekkeheien, R. C.; Reymond, Alexandre; Fukai, Naomi; ... Guipponi, Michel 2004
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Lack of evidence for HLA-linked patterns of odorous carboxylic acids released from glutamine conjugates secreted in the human axilla Natsch, Andreas; Kuhn, Fabian; Tiercy, Jean-Marie 2010
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Large-scale population study of human cell lines indicates that dosage compensation is virtually complete Johnston, Colette M.; Lovell, Frances L.; Leongamornlert, Daniel A.; Stranger, Barbara E.; ... Ross, Mark T. 2008
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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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Modulation of anger control in suicide attempters by TPH-1 Baud, Patrick; Perroud, N.; Courtet, P.; Jaussent, I.; ... Malafosse, Alain 2009
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