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Loss of heterozygosity for the short arm of chromosome 11 (11p15) in human milk epithelial cells immortalized by microinjection of SV40 DNA. Garcia, Irène; Brandt, D; Weintraub, J; Zhou, W G; Aapro, M 1991
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HLA-DR polymorphism in a Senegalese Mandenka population : DNA oligotyping and population genetics of DRB1 specificities Tiercy, Jean-Marie; Sanchez-Mazas, Alicia; Excoffier, Laurent Georges Louis; Shi-Isaac, Xiaowen; ... Langaney, André 1992
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Report of the Fourth International Workshop on Human Chromosome 21 Delabar, J. M.; Creau, N.; Sinet, P. M.; Ritter, O.; ... Patterson, D. 1993
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Loss of heterozygosity at the RB locus correlates with loss of RB protein in primary malignant neuro-endocrine lung carcinomas Gouyer, V; Gazzeri, S; Brambilla, E; Bolon, Isabelle; ... Brambilla, C 1994
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Factor VIII gene inversions in severe hemophilia A: results of an international consortium study Antonarakis, Stylianos 1995
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Constitutive expression of bcl-2 in B cells causes a lethal form of lupuslike autoimmune disease after induction of neonatal tolerance to H-2b alloantigens Lopez-Hoyos, Marcos; Carrio, R.; Merino, Ramon; Buelta, Luis; ... Merino, Jesus 1996
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Chromatin insulator elements block the silencing of a target gene by the Drosophila polycomb response element (PRE) but allow trans interactions between PREs on different chromosomes Sigrist, Christian; Pirrotta, Vincenzo 1997
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Genetic polymorphism of CCR5 gene and HIV disease: the heterozygous (CCR5/delta ccr5) genotype is neither essential nor sufficient for protection against disease progression. Swiss HIV Cohort Morawetz, R. A.; Rizzardi, G. P.; Glauser, Dominique; Rutschmann, Olivier Thierry; ... Pantaleo, G. 1997
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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
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Electron currents generated by the human phagocyte NADPH oxidase Schrenzel, Jacques; Serrander, Lena; Banfi, Botond; Nusse, Olivier; ... Krause, Karl-Heinz 1998
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Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity Mehenni, H.; Gehrig, Corinne; Nezu, J.; Oku, A.; ... Antonarakis, Stylianos 1998
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MHC-linked control of murine SLE Ibnou-Zekri, Nabila; Vyse, T. J.; Rozzo, S. J.; Iwamoto, Masahiro; ... Izui, Shozo 1999
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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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Isolation of Su(var)3-7 mutations by homologous recombination in Drosophila melanogaster Seum, Carole; Pauli, Daniel; Delattre, Marion; Jaquet, Yannis; ... Spierer, Pierre 2002
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Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse Izumi, Tetsuro; Yokota-Hashimoto, Hiromi; Zhao, Shengli; Wang, Jie; ... Takeuchi, Toshiyuki 2003
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Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers Gold, Gabriel; Blouin, Jean-Louis; Herrmann, François; Michon, Agnès; ... Antonarakis, Stylianos 2003
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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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APOE and modulation of Alzheimer's and frontotemporal dementia Boccardi, Marina; Sabattoli, F; Testa, C; Beltramello, A; ... Frisoni, Giovanni 2004
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Evolutionary comparison provides evidence for pathogenicity of RMRP mutations Bonafe, Luisa; Dermitzakis, Emmanouil; Unger, Sheila; Greenberg, C. R.; ... Reymond, Alexandre 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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