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 TitleAuthors / EditorsDate
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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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Early history of mammals is elucidated with the ENCODE multiple species sequencing data Nikolaev, Sergey; Montoya Burgos, Juan Ignacio; Margulies, E. H.; Rougemont, Jacques; ... Antonarakis, Stylianos 2007
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Gene duplication: a drive for phenotypic diversity and cause of human disease Conrad, Bernard; Antonarakis, Stylianos 2007
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A whole-genome association study of major determinants for host control of HIV-1 Fellay, Jacques; Shianna, K. V.; Ge, Dongliang; Colombo, Sara; ... Goldstein, D. B. 2007
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Promoter polymorphisms and allelic imbalance in ABCB1 expression Loeuillet, Corinne; Weale, Michael; Deutsch, Samuel; Rotger, Margalida; ... Telenti, Amalio 2007
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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
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Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability Beckmann, J. S.; Estivill, Xavier; Antonarakis, Stylianos 2007
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Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1 Beiraghi, Soraya; Nath, S. K.; Gaines, Matthew; Mandhyan, D. D.; ... Radhakrishna, Uppala 2007
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Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation Bottani, Armand; Chelly, Jamel; de Brouwer, A. P.; Pardo, Bruno; ... Conrad, Bernard 2007
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MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother Dayer, Alexandre; Bottani, Armand; Bouchardy, Isabelle; Fluss, Joel Victor; ... Morris, Michael Andréw 2007
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Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease de Pontual, L.; Pelet, A.; Clement-Ziza, M.; Trochet, D.; ... Amiel, J. 2007
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Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions Denoeud, France; Kapranov, Philipp; Ucla, Catherine; Frankish, Adam; ... Reymond, Alexandre 2007
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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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