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RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse Heino, M.; Peterson, P.; Sillanpaa, N.; Guerin, S.; ... Krohn, K. J. 2000
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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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Mutations in GJB6 cause hidrotic ectodermal dysplasia Lamartine, J.; Munhoz Essenfelder, G.; Kibar, Z.; Lanneluc, I.; ... Waksman, G. 2000
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Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: schizophrenia linkage collaborative group III Levinson, D. F.; Holmans, P.; Straub, R. E.; Owen, M. J.; ... Mallet, J. 2000
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Patterns of meiotic recombination on the long arm of human chromosome 21 Lynn, A.; Kashuk, C.; Petersen, M. B.; Bailey, J. A.; ... Chakravarti, A. 2000
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No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD) Maiti, A. K.; Bartoloni, Lucia; Mitchison, H. M.; Meeks, M.; ... Antonarakis, Stylianos 2000
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Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family Aapola, Ulla; Kawasaki, K.; Scott, Hamish Steele; Ollila, J.; ... Peterson, P. 2000
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Disease-causing mutations in the human genome Antonarakis, Stylianos; Krawczak, M.; Cooper, D. N. 2000
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OMIM passes the 1,000-disease-gene mark Antonarakis, Stylianos; McKusick, V. A. 2000
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Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency Bartoloni, Lucia; Wattenhofer, M.; Kudoh, J.; Berry, A.; ... Antonarakis, Stylianos 2000
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Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region Berry, A.; Scott, Hamish Steele; Kudoh, J.; Talior, I.; ... Bonne-Tamir, B. 2000
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Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity Blouin, Jean-Louis; Meeks, M.; Radhakrishna, U.; Sainsbury, A.; ... Antonarakis, Stylianos 2000
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Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome Chrast, R.; Scott, Hamish Steele; Madani, Rime; Huber, L.; ... Antonarakis, Stylianos 2000
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The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals Chrast, R.; Scott, Hamish Steele; Papasavvas, M. P.; Rossier, Colette; ... Antonarakis, Stylianos 2000
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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion den Dunnen, J. T.; Antonarakis, Stylianos 2000
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Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes Eliez, Stéphan; Palacio-Espasa, Francisco; Spira, A.; Lacroix, M.; ... Cramer, B. 2000
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C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning Guipponi, Michel; Brunschwig, K.; Chamoun, Z.; Scott, Hamish Steele; ... Antonarakis, Stylianos 2000
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Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21 Guipponi, Michel; Yaspo, M. L.; Riesselman, L.; Chen, H.; ... Antonarakis, Stylianos 2000
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Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein Michaud, J.; Kudoh, J.; Berry, A.; Bonne-Tamir, B.; ... Scott, Hamish Steele 2000
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Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia Neerman Arbez, Marguerite; De Moerloose, Philippe; Bridel, C.; Honsberger, A.; ... Morris, Michael Andréw 2000
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