| Title | Authors / Editors | Date |
unige:8681 |
A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y |
Chen, H.; Rossier, Colette; Morris, Michael Andréw; Scott, Hamish Steele; ... Antonarakis, Stylianos |
1999 |
unige:8625 |
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia |
Bartoloni, Lucia; Blouin, Jean-Louis; Maiti, A. K.; Sainsbury, A.; ... Antonarakis, Stylianos |
2001 |
unige:8771 |
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 |
unige:9030 |
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 |
unige:8627 |
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 |
unige:8676 |
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 |
unige:8679 |
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 |
unige:8906 |
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 |
unige:8682 |
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 |
unige:8680 |
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 |
unige:8678 |
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 |
unige:8953 |
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 |
unige:8686 |
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 |
unige:8842 |
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 |
unige:9028 |
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins |
Scott, Hamish Steele; Heino, M.; Peterson, P.; Mittaz, L.; ... Antonarakis, Stylianos |
1998 |
unige:9166 |
Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening |
D'Haene, B.; Attanasio, Catia; Beysen, Diane; Dostie, Josee; ... De Baere, Elfride |
2009 |
unige:1068 |
DNAI1 mutations explain only 2% of primary ciliary dykinesia |
Failly, Mike; Saitta, Alexandra; Munoz, Analia; Falconnet, Emilie; ... Blouin, Jean-Louis |
2008 |
unige:8847 |
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy |
Lalioti, M. D.; Scott, Hamish Steele; Buresi, C.; Rossier, Colette; ... Antonarakis, Stylianos |
1997 |
unige:8720 |
Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs) |
Dermitzakis, Emmanouil; Reymond, Alexandre; Scamuffa, Nathalie; Ucla, Catherine; ... Antonarakis, Stylianos |
2003 |
unige:8955 |
Frequency of replication/transcription errors in (A)/(T) runs of human genes |
Giacobino, Ariane; Rossier, Colette; Papasavvas, M.; Antonarakis, Stylianos |
2001 |