| | Title | Authors / Editors | Date |
|
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: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:8719 |
Numerous potentially functional but non-genic conserved sequences on human chromosome 21 |
Dermitzakis, Emmanouil; Reymond, Alexandre; Lyle, Robert; Scamuffa, Nathalie; ... Antonarakis, Stylianos |
2002 |
|
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:8990 |
Human chromosome 21 gene expression atlas in the mouse |
Reymond, Alexandre; Marigo, Valeria; Yaylaoglu, M. B.; Leoni, Antonio; ... Ballabio, Andrea |
2002 |
|
unige:8612 |
Chromosome 21: a small land of fascinating disorders with unknown pathophysiology |
Antonarakis, Stylianos; Lyle, Robert; Deutsch, Samuel; Reymond, Alexandre |
2002 |
|
unige:9050 |
The TPTE gene family: cellular expression, subcellular localization and alternative splicing |
Tapparel, Caroline; Reymond, Alexandre; Girardet, Christophe; Guillou, Louis; ... Antonarakis, Stylianos |
2003 |
|
unige:8720 |
Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs) |
Dermitzakis, Emmanouil; Reymond, Alexandre; Scamuffa, Nathalie; Ucla, Catherine; ... Antonarakis, Stylianos |
2003 |
|
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:8770 |
Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes |
Guigo, Roderic; Dermitzakis, Emmanouil; Agarwal, Pankaj; Ponting, C. P.; ... Brent, M. R. |
2003 |
|
unige:9133 |
Chromosome 21 and Down syndrome: the post-sequence era |
Antonarakis, Stylianos; Reymond, Alexandre; Lyle, Robert; Deutsch, Samuel; Dermitzakis, Emmanouil |
2003 |
|
unige:8717 |
Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment |
Dermitzakis, Emmanouil; Kirkness, Ewen; Schwarz, Scott; Birney, Ewan; ... Antonarakis, Stylianos |
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 |
|
unige:8896 |
The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3 |
Merla, Giuseppe; Howald, Cedric; Antonarakis, Stylianos; Reymond, Alexandre |
2004 |
|
unige:8611 |
Chromosome 21 and down syndrome: from genomics to pathophysiology |
Antonarakis, Stylianos; Lyle, Robert; Dermitzakis, Emmanouil; Reymond, Alexandre; Deutsch, Samuel |
2004 |
|
unige:9093 |
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro |
Wattenhofer, Marie; Reymond, Alexandre; Falciola, Veronique; Charollais, Anne; ... Antonarakis, Stylianos |
2005 |
|
unige:9094 |
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 |
|
unige:8718 |
Conserved non-genic sequences - an unexpected feature of mammalian genomes |
Dermitzakis, Emmanouil; Reymond, Alexandre; Antonarakis, Stylianos |
2005 |
Reymond, Alexandre
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