| | Title | Authors / Editors | Date |
|
unige:42268 |
Domains of genome-wide gene expression dysregulation in Down's syndrome |
Letourneau, Audrey; Santoni, Federico; Bonilla Bustillo, Ximena; Sailani, Mohammad Reza; ... Antonarakis, Stylianos |
2014 |
|
unige:34644 |
BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients |
Tlili, Asma; Hoischen, Alexander; Ripoll, Clémentine; Benabou, Eva; ... Janel, Nathalie |
2012 |
|
unige:5576 |
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 |
Lyle, Robert; Bena, Frédérique; Gagos, Sarantis; Gehrig, Corinne; ... Antonarakis, Stylianos |
2009 |
|
unige:9167 |
Efficient targeted transcript discovery via array-based normalization of RACE libraries |
Djebali, Sarah; Kapranov, Philipp; Foissac, Sylvain; Lagarde, Julien; ... Guigo, Roderic |
2008 |
|
unige:1279 |
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness |
Guipponi, Michel; Antonarakis, Stylianos; Scott, Hamish Steele |
2008 |
|
unige:1188 |
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events |
Dahoun, Sophie; Gagos, Sarantis; Gagnebin, Maryline; Gehrig, Corinne; ... Blouin, Jean-Louis |
2008 |
|
unige:33455 |
Transcriptional profiling of type 1 diabetes genes on chromosome 21 in a rat beta-cell line and human pancreatic islets |
Bergholdt, R; Karlsen, A E; Hagedorn, P H; Aalund, M; ... Pociot, F |
2007 |
|
unige:8608 |
The challenge of Down syndrome |
Antonarakis, Stylianos; Epstein, C. J. |
2006 |
|
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:9092 |
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients |
Wattenhofer, Marie; Di Iorio, M. V.; Rabionet, Raquel; Dougherty, Loretta; ... Antonarakis, Stylianos |
2002 |
|
unige:8900 |
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis |
Michaud, Joelle; Wu, Feng; Osato, Motomi; Cottles, G. M.; ... Scott, Hamish Steele |
2002 |
|
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: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:26677 |
[Alzheimer's disease and genetic factors] |
Leuba, G; Savioz, Armand |
1997 |
Chromosomes, Human, Pair 21/genetics
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