| Title | Authors / Editors | Date |
unige:8736 |
Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes |
Eliez, Stéphan; Palacio-Espasa, Francisco; Spira, A.; Lacroix, M.; ... Cramer, B. |
2000 |
unige:8917 |
YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome |
Nadal, M.; Mila, M.; Pritchard, M.; Mur, A.; ... Estivill, X. |
1996 |
unige:8845 |
What is expanded in progressive myoclonus epilepsy? |
Lalioti, M. D.; Scott, Hamish Steele; Antonarakis, Stylianos |
1997 |
unige:9136 |
Welcome to PathoGenetics |
Ballabio, Andrea; Antonarakis, Stylianos |
2008 |
unige:8879 |
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls |
Makrythanasis, Periklis; Kapranov, Philipp; Bartoloni, Lucia; Reymond, Alexandre; ... Antonarakis, Stylianos |
2009 |
unige:8950 |
Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis |
Pangalos, C.; Avramopoulos, D.; Blouin, Jean-Louis; Raoul, O.; ... Antonarakis, Stylianos |
1994 |
unige:8919 |
Two-dimensional electrophoresis southern transfer method for detecting human genome variability using a LINE-1 sequence probe |
Nakashima, H.; Yi, M.; Ichikawa, N.; LeBlond, G. F.; ... Ts'o, P. O. |
1995 |
unige:8963 |
Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene |
Perrin, G.; Morris, Michael Andréw; Antonarakis, Stylianos; Boltshauser, E.; Hutter, Pierre |
1996 |
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: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:34646 |
Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes |
Cossec, Jack-Christophe; Lavaur, Jérémie; Berman, Diego E; Rivals, Isabelle; ... Potier, Marie-Claude |
2012 |
unige:8683 |
Trapping and sequence analysis of 1138 putative exons from human chromosome 18 |
Chen, H.; Wang, N.; Huo, Y.; Sklar, P.; ... McInnis, M. G. |
2003 |
unige:34328 |
Transcriptome and genome sequencing uncovers functional variation in humans |
Lappalainen, Tuuli Emilia; Giger, Thomas; Padioleau, Ismael; Ongen, Halit; ... Dermitzakis, Emmanouil |
2013 |
unige:8699 |
Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome |
Dahmane, N.; Ghezala, G. A.; Gosset, P.; Chamoun, Z.; ... Delabar, J. M. |
1998 |
unige:8941 |
Transcriptional and post-transcriptional profile of human chromosome 21 |
Nikolaev, Sergey Igorievich; Deutsch Escalante, Samuel; Genolet, Raphaël; Borel, Christelle; ... Antonarakis, Stylianos |
2009 |
unige:8856 |
Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoter |
Leupin, Olivier; Attanasio, Catia; Marguerat, Samuel; Tapernoux, Myriam; ... Conrad, Bernard |
2005 |
unige:34632 |
TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm |
De Iaco, Alberto; Santoni, Federico; Vannier, Anne; Guipponi, Michel; ... Luban, Jeremy |
2013 |
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:34663 |
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing |
Fasquelle, Lydie; Scott, Hamish S; Lenoir, Marc; Wang, Jing; ... Delprat, Benjamin |
2011 |
unige:77359 |
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing |
Gutierrez Arcelus, Maria; Ongen, Halit; Lappalainen, Tuuli Emilia; Montgomery, Stephen; ... Dermitzakis, Emmanouil |
2015 |