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 TitleAuthors / EditorsDate
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Human chromosome 21: genome mapping and exploration, circa 1993 Antonarakis, Stylianos 1993
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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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Normal phenotype with paternal uniparental isodisomy for chromosome 21 Blouin, Jean-Louis; Avramopoulos, D.; Pangalos, C.; Antonarakis, Stylianos 1993
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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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Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis Pangalos, C.; Avramopoulos, D.; Blouin, Jean-Louis; Raoul, O.; ... Antonarakis, Stylianos 1994
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Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia Rogan, P. K.; Close, P.; Blouin, Jean-Louis; Seip, J. R.; ... Antonarakis, Stylianos 1995
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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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Localization of a human homolog of the mouse Tiam-1 gene to chromosome 21q22.1 Chen, H.; Antonarakis, Stylianos 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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Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21 Chrast, R.; Chen, H.; Morris, Michael Andréw; Antonarakis, Stylianos 1995
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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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The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3 Lalioti, M. D.; Gos, A.; Green, M. R.; Rossier, Colette; ... Antonarakis, Stylianos 1996
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Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21 Blouin, Jean-Louis; Duriaux Sail, Geneviève; Chen, H.; Gos, A.; ... Antonarakis, Stylianos 1996
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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 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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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 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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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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The human lanosterol synthase gene maps to chromosome 21q22.3 Young, M.; Chen, H.; Lalioti, M. D.; Antonarakis, Stylianos 1996
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YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome Nadal, M.; Mila, M.; Pritchard, M.; Mur, A.; ... Estivill, X. 1996
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The SH3D1A gene maps to human chromosome 21q22.1-->q22.2 Chen, H.; Antonarakis, Stylianos 1997
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Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3 Krohn, K.; Ovod, V.; Vilja, P.; Heino, M.; ... Peterson, P. 1997
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What is expanded in progressive myoclonus epilepsy? Lalioti, M. D.; Scott, Hamish Steele; Antonarakis, Stylianos 1997
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Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2 Chen, 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 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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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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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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Positional cloning of the APECED gene Nagamine, K.; Peterson, P.; Scott, Hamish Steele; Kudoh, J.; ... Shimizu, N. 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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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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Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome Dahmane, N.; Ghezala, G. A.; Gosset, P.; Chamoun, Z.; ... Delabar, J. M. 1998
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Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2) Scott, Hamish Steele; Antonarakis, Stylianos; Lalioti, M. D.; Rossier, Colette; ... Henry, M. F. 1998
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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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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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Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3 Scott, Hamish Steele; Antonarakis, Stylianos; Mittaz, L.; Lalioti, M. D.; ... Gal, A. 2000
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The DNA sequence of human chromosome 21 Hattori, M. 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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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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Chromosome 21: from sequence to applications Antonarakis, Stylianos 2001
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Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains Wattenhofer, M.; Shibuya, K.; Kudoh, J.; Lyle, Robert; ... Scott, Hamish Steele 2001
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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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Nineteen additional unpredicted transcripts from human chromosome 21 Reymond, Alexandre; Camargo, A. A.; Deutsch, Samuel; Stevenson, B. J.; ... Antonarakis, Stylianos 2002
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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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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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Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21 Lyle, Robert; Prandini, Paola; Osoegawa, Kazutoyo; ten Hallers, Boudewijn; ... Antonarakis, Stylianos 2007
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Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes Sethupathy, Praveen; Borel, Christelle; Gagnebin, Maryline; Grant, G. R.; ... Antonarakis, Stylianos 2007
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Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance Prandini, Paola; Deutsch, Samuel; Lyle, Robert; Gagnebin, Maryline; ... Antonarakis, Stylianos 2007
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Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing Nikolaev, S. I.; Iseli, Christian; Sharp, A. J.; Robyr, Daniel; ... Antonarakis, Stylianos 2009
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