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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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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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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 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 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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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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Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy Lalioti, M. D.; Scott, Hamish Steele; Buresi, C.; Rossier, Colette; ... 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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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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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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Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1 Blouin, Jean-Louis; Duriaux Sail, Geneviève; Guipponi, Michel; Rossier, Colette; ... Antonarakis, Stylianos 1998
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Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon Guipponi, Michel; Scott, Hamish Steele; Chen, H.; Schebesta, A.; ... Antonarakis, Stylianos 1998
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Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence Guipponi, Michel; Scott, Hamish Steele; Kudoh, J.; Kawasaki, K.; ... Antonarakis, Stylianos 1998
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