| Title | Authors / Editors | Date |
unige:25377 |
Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing |
Ratnamala, Uppala; Lyle, Robert; Rawal, Rakesh; Singh, Raminder; ... Radhakrishna, Uppala |
2011 |
unige:8907 |
Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres |
Moldrich, R. X.; Dauphinot, Luce; Laffaire, Julien; Vitalis, Tania; ... Potier, M. C. |
2009 |
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:8664 |
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome |
Canzonetta, Claudia; Mulligan, Claire; Deutsch, Samuel; Ruf, Sandra; ... Nizetic, Dean |
2008 |
unige:1281 |
Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells |
Attanasio, Catia; Reymond, Alexandre; Humbert, Richard; Lyle, Robert; ... Stamatoyannopoulos, John A. |
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:1039 |
Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3 |
Friedli, Marc; Nikolaev, Sergey Igorievich; Lyle, Robert; Arcangeli, Mélanie; ... Antonarakis, Stylianos |
2008 |
unige:1055 |
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy |
Fokstuen, Siv; Lyle, Robert; Munoz, Analia; Gehrig, Corinne; ... Blouin, Jean-Louis |
2008 |
unige:8871 |
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21 |
Lyle, Robert; Prandini, Paola; Osoegawa, Kazutoyo; ten Hallers, Boudewijn; ... Antonarakis, Stylianos |
2007 |
unige:8969 |
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance |
Prandini, Paola; Deutsch, Samuel; Lyle, Robert; Gagnebin, Maryline; ... Antonarakis, Stylianos |
2007 |
unige:8740 |
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation |
Everman, D. B.; Morgan, C. T.; Lyle, Robert; Laughridge, M. E.; ... Schwartz, C. E. |
2006 |
unige:8815 |
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions |
Howald, C.; Merla, Giuseppe; Digilio, M. C.; Amenta, S.; ... Reymond, Alexandre |
2006 |
unige:8872 |
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region |
Lyle, Robert; Radhakrishna, Uppala; Blouin, Jean-Louis; Gagos, Sarantis; ... Antonarakis, Stylianos |
2006 |
unige:8897 |
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes |
Merla, Giuseppe; Howald, Cedric; Henrichsen, C. N.; Lyle, Robert; ... Reymond, Alexandre |
2006 |
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:9096 |
Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis |
Webster, K. E.; O'Bryan, M. K.; Fletcher, Stephen; Crewther, P. E.; ... Scott, Hamish Steele |
2005 |
unige:8700 |
The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome |
Dauphinot, L.; Lyle, Robert; Rivals, I.; Dang, M. T.; ... Potier, M. C. |
2005 |
unige:8724 |
Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes |
Deutsch, Samuel; Lyle, Robert; Dermitzakis, Emmanouil; Attar, Homa; ... Antonarakis, Stylianos |
2005 |
unige:9174 |
L'apport de la génétique moléculaire en cardiologie clinique : l'exemple de la cardiomyopathie hypertrophique |
Fokstuen, Siv; Blouin, Jean-Louis; Lyle, Robert; Lerch, René; ... Sigwart, Ulrich |
2005 |
unige:8870 |
Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome |
Lyle, Robert; Gehrig, Corinne; Neergaard-Henrichsen, Charlotte; Deutsch, Samuel; Antonarakis, Stylianos |
2004 |