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Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2 Guipponi, Michel; Scott, Hamish Steele; Hattori, M.; Ishii, K.; ... Antonarakis, Stylianos 1998
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Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly Vargas, F. R.; Roessler, E.; Gaudenz, K.; Belloni, E.; ... Muenke, M. 1998
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Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) Lalioti, M. D.; Mirotsou, M.; Buresi, C.; Peitsch, M. C.; ... 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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Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3 Scott, Hamish Steele; Chen, H.; Rossier, Colette; Lalioti, M. D.; Antonarakis, Stylianos 1997
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Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene Young, M.; Inaba, H.; Hoyer, L. W.; Higuchi, M.; ... Antonarakis, Stylianos 1997
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Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome Giacobino, Ariane; Chen, H.; Antonarakis, Stylianos 1997
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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 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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Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter Chen, H.; Gos, A.; Morris, Michael Andréw; Antonarakis, Stylianos 1996
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Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3 Chen, H.; Rossier, Colette; Lalioti, M. D.; Lynn, A.; ... Antonarakis, Stylianos 1996
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The human lanosterol synthase gene maps to chromosome 21q22.3 Young, M.; Chen, H.; Lalioti, M. D.; Antonarakis, Stylianos 1996
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Molecular genetics of coagulation factor VIII gene and hemophilia A Antonarakis, Stylianos 1995
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Localization of 102 exons to a 2.5 Mb region involved in Down syndrome Lucente, D.; Chen, H. M.; Shea, D.; Samec, S. N.; ... McCormick, M. K. 1995
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Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A Bi, L.; Lawler, A. M.; Antonarakis, Stylianos; High, K. A.; ... Kazazian, H. H. 1995
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Single-minded and Down syndrome? Chen, H.; Chrast, R.; Rossier, Colette; Gos, A.; ... Minoshima, S. 1995
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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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RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a novel family of homodimeric and heterodimeric DNA-binding proteins Reith, Walter; Ucla, C.; Barras, Emmanuele; Gaud, A.; ... Mach, Bernard 1994
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Exon skipping associated with A-->G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene Hutter, P.; Antonarakis, Stylianos; Delozier-Blanchet, C. D.; Morris, Michael Andréw 1994
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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A Lakich, D.; Kazazian, H. H.; Antonarakis, Stylianos; Gitschier, J. 1993
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