| Title | Authors / Editors | Date |
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:74595 |
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy |
Guicheney, P; Vignier, N; Zhang, X; He, Y; ... Tryggvason, K |
1998 |
unige:9063 |
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 |
unige:8699 |
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 |
unige:8772 |
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 |
unige:8773 |
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 |
unige:9148 |
Gene structure and chromosomal localization of the human P2X7 receptor |
Buell, G. N.; Talabot, F.; Gos, A.; Lorenz, J.; ... Antonarakis, Stylianos |
1998 |
unige:9000 |
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) |
Roessler, E.; Mittaz, L.; Du, Y.; Scott, Hamish Steele; ... Antonarakis, Stylianos |
1999 |
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:8713 |
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion |
den Dunnen, J. T.; Antonarakis, Stylianos |
2000 |
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:8777 |
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 |
unige:8899 |
Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein |
Michaud, J.; Kudoh, J.; Berry, A.; Bonne-Tamir, B.; ... Scott, Hamish Steele |
2000 |
unige:8930 |
Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia |
Neerman Arbez, Marguerite; De Moerloose, Philippe; Bridel, C.; Honsberger, A.; ... Morris, Michael Andréw |
2000 |
unige:26601 |
Search for a mutation in the tau gene in a Swiss family with frontotemporal dementia |
Savioz, Armand; Kovari, Eniko Veronika; Anastasiu, R; Rossier, Colette; ... Leuba, G |
2000 |
unige:11445 |
Dysregulated expression of the Cd22 gene as a result of a short interspersed nucleotide element insertion in Cd22a lupus-prone mice |
Mary, Charles; Laporte, Catherine; Parzy, Daniel; Santiago-Raber, Marie-Laure; ... Reininger, Luc |
2000 |
unige:11639 |
PECAM-1/CD31 trans-homophilic binding at the intercellular junctions is independent of its cytoplasmic domain; evidence for heterophilic interaction with integrin alphavbeta3 in Cis |
Wong, C. W.; Wiedle, Guido; Ballestrem, Christoph; Wehrle-Haller, Bernhard; ... Imhof, Beat |
2000 |
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:90660 |
Role of two dileucine-like motifs in insulin receptor anchoring to microvilli |
Shackleton, Sue; Hamer, Isabelle; Foti, Michelangelo; Zumwald, Nicole; ... Carpentier, Jean-Louis |
2002 |
unige:30585 |
Comparative genome and proteome analysis of Anopheles gambiae and Drosophila melanogaster |
Zdobnov, Evgeny; von Mering, Christian; Letunic, Ivica; Torrents, David; ... Bork, Peer |
2002 |