| | Title | Authors / Editors | Date |
|
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:8706 |
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 |
de Mollerat, X. J.; Gurrieri, Fiorella; Morgan, C. T.; Sangiorgi, Eugenio; ... Schwartz, C. E. |
2003 |
|
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: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:8611 |
Chromosome 21 and down syndrome: from genomics to pathophysiology |
Antonarakis, Stylianos; Lyle, Robert; Dermitzakis, Emmanouil; Reymond, Alexandre; Deutsch, Samuel |
2004 |
|
unige:9133 |
Chromosome 21 and Down syndrome: the post-sequence era |
Antonarakis, Stylianos; Reymond, Alexandre; Lyle, Robert; Deutsch, Samuel; Dermitzakis, Emmanouil |
2003 |
|
unige:8612 |
Chromosome 21: a small land of fascinating disorders with unknown pathophysiology |
Antonarakis, Stylianos; Lyle, Robert; Deutsch, Samuel; Reymond, Alexandre |
2002 |
|
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: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:8610 |
Differential gene expression studies to explore the molecular pathophysiology of Down syndrome |
Antonarakis, Stylianos; Lyle, Robert; Chrast, R.; Scott, Hamish Steele |
2001 |
|
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: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: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: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 |
|
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: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:8990 |
Human chromosome 21 gene expression atlas in the mouse |
Reymond, Alexandre; Marigo, Valeria; Yaylaoglu, M. B.; Leoni, Antonio; ... Ballabio, Andrea |
2002 |
|
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:9095 |
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains |
Wattenhofer, M.; Shibuya, K.; Kudoh, J.; Lyle, Robert; ... Scott, Hamish Steele |
2001 |
|
unige:8594 |
Isolation and initial characterization of the mouse Dnmt3l gene |
Aapola, Ulla; Lyle, Robert; Krohn, K.; Antonarakis, Stylianos; Peterson, P. |
2001 |
|
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: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: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: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:8988 |
Nineteen additional unpredicted transcripts from human chromosome 21 |
Reymond, Alexandre; Camargo, A. A.; Deutsch, Samuel; Stevenson, B. J.; ... Antonarakis, Stylianos |
2002 |
|
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: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: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: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: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: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:9050 |
The TPTE gene family: cellular expression, subcellular localization and alternative splicing |
Tapparel, Caroline; Reymond, Alexandre; Girardet, Christophe; Guillou, Louis; ... Antonarakis, Stylianos |
2003 |
|
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 |
Lyle, Robert
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