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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 new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination Blouin, Jean-Louis; Christie, D. H.; Gos, A.; Lynn, A.; ... Antonarakis, Stylianos 1995
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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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APECED: a monogenic autoimmune disease providing new clues to self-tolerance Peterson, P.; Nagamine, K.; Scott, Hamish Steele; Heino, M.; ... Krohn, K. J. 1998
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Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically Blouin, Jean-Louis; Binkert, F.; Antonarakis, Stylianos 1994
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Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis Scott, Hamish Steele; Kyriakou, D. S.; Peterson, P.; Heino, M.; ... Antonarakis, Stylianos 1998
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Chromosome 21: a small land of fascinating disorders with unknown pathophysiology Antonarakis, Stylianos; Lyle, Robert; Deutsch, Samuel; Reymond, Alexandre 2002
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Chromosome 21: from sequence to applications Antonarakis, Stylianos 2001
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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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Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping Chen, H.; Chrast, R.; Rossier, Colette; Morris, Michael Andréw; ... Antonarakis, Stylianos 1996
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Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2 Chen, H.; Rossier, Colette; Antonarakis, Stylianos 1996
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Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3 Mittaz, L.; Scott, Hamish Steele; Rossier, Colette; Seeburg, P. H.; ... Antonarakis, Stylianos 1997
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Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3 Chen, H.; Rossier, Colette; Nakamura, Y.; Lynn, A.; ... Antonarakis, Stylianos 1997
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Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3 Chen, H.; Bouras, Constantin; Antonarakis, Stylianos 1996
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Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2 Chen, H.; Morris, Michael Andréw; Rossier, Colette; Blouin, Jean-Louis; Antonarakis, Stylianos 1995
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Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3 Giacobino, Ariane; Chen, Haiming; Peitsch, M. C.; Rossier, Colette; Antonarakis, Stylianos 1997
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Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region Chrast, R.; Scott, Hamish Steele; Chen, H.; Kudoh, J.; ... Antonarakis, Stylianos 1997
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Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3 Lalioti, M. D.; Chen, H.; Rossier, Colette; Shafaatian, R.; ... Antonarakis, Stylianos 1996
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Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3 Lapenta, V.; Sossi, V.; Gosset, P.; Vayssettes, C.; ... Brahe, C. 1998
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Detection of aneuploidies by paralogous sequence quantification Deutsch, Samuel; Choudhury, U.; Merla, Giuseppe; Howald, C.; ... Antonarakis, Stylianos 2004
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