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Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome Gothelf, Doron; Hoeft, Fumiko; Hinard, Christine; Hallmayer, J. F.; ... Reiss, A. L. 2007
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Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes Sethupathy, Praveen; Borel, Christelle; Gagnebin, Maryline; Grant, G. R.; ... Antonarakis, Stylianos 2007
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The implications of alternative splicing in the ENCODE protein complement Antonarakis, Stylianos; Reymond, Alexandre 2007
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Structured RNAs in the ENCODE selected regions of the human genome Washietl, Stefan; Pedersen, J. S.; Korbel, J. O.; Stocsits, Claudia; ... Stadler, P. F. 2007
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Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution Zheng, Deyou; Frankish, Adam; Baertsch, Robert; Kapranov, Philipp; ... Gerstein, M. B. 2007
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Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1 Naveed, Mohammed; Nath, S. K.; Gaines, Mathew; Al-Ali, M. T.; ... Radhakrishna, Uppala 2007
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Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements Nikolaev, S. I.; Montoya Burgos, Juan Ignacio; Popadin, Konstantin; Parand, Leila; ... Antonarakis, Stylianos 2007
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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
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Welcome to PathoGenetics Ballabio, Andrea; Antonarakis, Stylianos 2008
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In vitro whole-genome analysis identifies a susceptibility locus for HIV-1 Loeuillet, Corinne; Deutsch, Samuel; Ciuffi, Angela; Robyr, Daniel; ... Telenti, Amalio 2008
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Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin Kazadi, Kayole; Loeuillet, Corinne; Deutsch, Samuel; Ciuffi, Angela; ... Telenti, Amalio 2008
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Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development Bonnefont, Jérôme; Nikolaev, Sergey Igorievich; Perrier, Anselme L.; Guo, Song; ... Krause, Karl-Heinz 2008
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Mapping of small RNAs in the human ENCODE regions Borel, Christelle; Gagnebin, Maryline; Gehrig, Corinne; Kriventseva, Evgenia; ... Antonarakis, Stylianos 2008
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Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore Hoda-Jourdan, Jean-Charles; Gu, Wenli; Friedli, Marc; Phillips, Hilary A.; ... Bertrand, Daniel 2008
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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
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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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Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3 Friedli, Marc; Nikolaev, Sergey Igorievich; Lyle, Robert; Arcangeli, Mélanie; ... Antonarakis, Stylianos 2008
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Functional genetic variation of human miRNAs and phenotypic consequences Borel, Christelle; Antonarakis, Stylianos 2008
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Efficient targeted transcript discovery via array-based normalization of RACE libraries Djebali, Sarah; Kapranov, Philipp; Foissac, Sylvain; Lagarde, Julien; ... Guigo, Roderic 2008
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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
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Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations Schwabe, Georg C.; Hoffmann, Katrin; Loges, Niki Tomas; Birker, Daniel; ... Bartoloni, Lucia 2008
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A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy Fokstuen, Siv; Lyle, Robert; Munoz, Analia; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
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Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients Martinet, Danielle; Filges, Isabel; Besuchet Schmutz, Nathalie; Morris, Michael Andréw; ... Bena, Frédérique 2008
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CNVs and genetic medicine (excitement and consequences of a rediscovery) Beckmann, J. S.; Sharp, A. J.; Antonarakis, Stylianos 2008
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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
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Pericentromeric instability and spontaneous emergence of human neoacrocentric and minute chromosomes in the alternative pathway of telomere lengthening Gagos, Sarantis; Chiourea, Maria; Christodoulidou, Agni; Apostolou, Eftichia; ... Antonarakis, Stylianos 2008
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Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome Voronov, S. V.; Frere, S. G.; Giovedi, Silvia; Pollina, E. A.; ... Di Paolo, Gilbert 2008
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Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening D'Haene, B.; Attanasio, Catia; Beysen, Diane; Dostie, Josee; ... De Baere, Elfride 2009
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Identifying protein-coding genes in genomic sequences Harrow, Jennifer; Nagy, Alinda; Reymond, Alexandre; Alioto, Tyler; ... Guigo, Roderic 2009
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Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing Nikolaev, S. I.; Iseli, Christian; Sharp, A. J.; Robyr, Daniel; ... Antonarakis, Stylianos 2009
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Common regulatory variation impacts gene expression in a cell type-dependent manner Dimas, Antigone S.; Deutsch, Samuel; Stranger, Barbara E.; Montgomery, Stephen; ... Antonarakis, Stylianos 2009
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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
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Genetic structure of Europeans: a view from the North-East Nelis, Mari; Esko, Tonu; Antonarakis, Stylianos; Borel, Christelle; Gagnebin, Maryline 2009
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Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation Bedard, Karen; Attar Cohen, Homa; Bonnefont, Jérôme; Jaquet, Vincent; ... Krause, Karl-Heinz 2009
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Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype Hubert, F. X.; Kinkel, S. A.; Crewther, P. E.; Cannon, P. Z.; ... Scott, Hamish Steele 2009
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Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms Lespinasse, James; Gimelli, Stefania; Bena, Frédérique; Antonarakis, Stylianos; ... Giacobino, Ariane 2009
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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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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
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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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A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome Pereira, P. L.; Magnol, Laetitia; Sahun, Ignasi; Brault, Veronique; ... Herault, Yann 2009
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Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15 Sharp, Andrew James; Migliavacca, Eugenia; Dupre, Yann; Stathaki, Elisavet; ... Antonarakis, Stylianos 2010
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A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents Marini, Monica; Bocciardi, Renata; Gimelli, Stefania; Di Duca, Marco; ... Ravazzolo, Roberto 2010
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Down syndrome: from understanding the neurobiology to therapy Gardiner, Katheleen; Herault, Yann; Lott, Ira T.; Antonarakis, Stylianos; ... Dierssen, Mara 2010
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Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation Gimelli, Stefania; Divizia, Maria Teresa; Lerone, Margherita; Bricco, Lara; ... Gimelli, Giorgio 2010
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A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes De Cegli, Rossella; Romito, Antonio; Iacobacci, Simona; Mao, Lei; ... Cobellis, G. 2010
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A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus Friedli, Marc; Barde, Isabelle; Arcangeli, Mélanie; Verp, Sonia; ... Antonarakis, Stylianos 2010
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New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism Kapranov, Philipp; Ozsolak, Fatih; Kim, Sang Woo; Foissac, Sylvain; ... Milos, Patrice M. 2010
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A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes Hovatta, Outi; Jaconi, Marisa; Tohonen, Virpi; Bena, Frédérique; ... Feki, Anis 2010
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Eye Gaze During Face Processing in Children and Adolescents With 22q11.2 Deletion Syndrome Glaser, Bronwyn; Debbané, Martin; Ottet, Marie-Christine; Vuilleumier, Patrik; ... Eliez, Stéphan 2010
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De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features Makrythanasis, Periklis; Moix, Isabelle; Gimelli, Stefania; Fluss, Joel Victor; ... Bottani, Armand 2010
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