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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
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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
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What is expanded in progressive myoclonus epilepsy? Lalioti, M. D.; Scott, Hamish Steele; Antonarakis, Stylianos 1997
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Welcome to PathoGenetics Ballabio, Andrea; Antonarakis, Stylianos 2008
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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
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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
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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
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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
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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
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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
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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
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Trapping and sequence analysis of 1138 putative exons from human chromosome 18 Chen, H.; Wang, N.; Huo, Y.; Sklar, P.; ... McInnis, M. G. 2003
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Transcriptome and genome sequencing uncovers functional variation in humans Lappalainen, Tuuli Emilia; Giger, Thomas; Padioleau, Ismael; Ongen, Halit; ... Dermitzakis, Emmanouil 2013
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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
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Transcriptional and post-transcriptional profile of human chromosome 21 Nikolaev, Sergey Igorievich; Deutsch Escalante, Samuel; Genolet, Raphaël; Borel, Christelle; ... Antonarakis, Stylianos 2009
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Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoter Leupin, Olivier; Attanasio, Catia; Marguerat, Samuel; Tapernoux, Myriam; ... Conrad, Bernard 2005
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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
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TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness Guipponi, Michel; Antonarakis, Stylianos; Scott, Hamish Steele 2008
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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
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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
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