| | Title | Authors / Editors | Date |
|
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:8774 |
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 |
|
unige:8647 |
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 |
|
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: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:8639 |
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region |
Berry, A.; Scott, Hamish Steele; Kudoh, J.; Talior, I.; ... Bonne-Tamir, B. |
2000 |
|
unige:9029 |
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness |
Scott, Hamish Steele; Kudoh, J.; Wattenhofer, M.; Shibuya, K.; ... Antonarakis, Stylianos |
2001 |
|
unige:8775 |
The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family |
Guipponi, Michel; Tapparel, Caroline; Jousson, Olivier; Scamuffa, N.; ... Antonarakis, Stylianos |
2001 |
|
unige:8821 |
Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP |
Hussain, N. K.; Jenna, S.; Glogauer, M.; Quinn, C. C.; ... McPherson, P. S. |
2001 |
|
unige:8888 |
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness |
Masmoudi, S.; Antonarakis, Stylianos; Schwede, T.; Ghorbel, A. M.; ... Guipponi, Michel |
2001 |
|
unige:8989 |
From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map |
Reymond, Alexandre; Friedli, Marc; Henrichsen, C. N.; Chapot, F.; ... Antonarakis, Stylianos |
2001 |
|
unige:8776 |
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro |
Guipponi, Michel; Vuagniaux, Gregoire; Wattenhofer, Marie; Shibuya, Kazunori; ... Rossier, B. C. |
2002 |
|
unige:8988 |
Nineteen additional unpredicted transcripts from human chromosome 21 |
Reymond, Alexandre; Camargo, A. A.; Deutsch, Samuel; Stevenson, B. J.; ... Antonarakis, Stylianos |
2002 |
|
unige:8747 |
Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12 |
Friedli, Marc; Guipponi, Michel; Bertrand, Sonia; Bertrand, Daniel; ... Reymond, Alexandre |
2003 |
|
unige:8973 |
Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling |
Pruitt, W. M.; Karnoub, A. E.; Rakauskas, A. C.; Guipponi, Michel; ... Der, C. J. |
2003 |
|
unige:8887 |
Association of the connexin36 gene with juvenile myoclonic epilepsy |
Mas, Christophe; Taske, N.; Deutsch, Samuel; Guipponi, Michel; ... Meda, Paolo |
2004 |
|
unige:8893 |
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin |
Menzel, Olivier; Bekkeheien, R. C.; Reymond, Alexandre; Fukai, Naomi; ... Guipponi, Michel |
2004 |
|
unige:8894 |
The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development |
Menzel, Olivier; Vellai, Tibor; Takacs-Vellai, Krisztina; Reymond, Alexandre; ... Guipponi, Michel |
2004 |
Guipponi, Michel
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