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 TitleAuthors / EditorsDate
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Genome linkage scanning: systematic or intelligent? 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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Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping Chen, H.; Chrast, R.; Rossier, Colette; Morris, Michael Andréw; ... Antonarakis, Stylianos 1996
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A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many years Savioz, Armand; Blouin, Jean-Louis; Guidi, S.; Antonarakis, Stylianos; Bouras, Constantin 1997
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Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee White, J. A.; McAlpine, P. J.; Antonarakis, Stylianos; Cann, H.; ... Povey, S. 1997
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Gene structure and chromosomal localization of the human P2X7 receptor Buell, G. N.; Talabot, F.; Gos, A.; Lorenz, J.; ... Antonarakis, Stylianos 1998
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Disease-causing mutations in the human genome Antonarakis, Stylianos; Krawczak, M.; Cooper, D. N. 2000
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Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity Blouin, Jean-Louis; Meeks, M.; Radhakrishna, U.; Sainsbury, A.; ... Antonarakis, Stylianos 2000
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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion den Dunnen, J. T.; Antonarakis, Stylianos 2000
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Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21 Guipponi, Michel; Yaspo, M. L.; Riesselman, L.; Chen, H.; ... Antonarakis, Stylianos 2000
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Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes Pulver, A. E.; Mulle, J.; Nestadt, G.; Swartz, K. L.; ... McGrath, J. A. 2000
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Proteome Analysis Database: online application of InterPro and CluSTr for the functional classification of proteins in whole genomes Apweiler, R; Biswas, M; Fleischmann, W; Kanapin, A; ... Zdobnov, Evgeny 2001
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BACking up the promises Antonarakis, Stylianos 2001
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Frequency of replication/transcription errors in (A)/(T) runs of human genes Giacobino, Ariane; Rossier, Colette; Papasavvas, M.; Antonarakis, Stylianos 2001
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Nineteen additional unpredicted transcripts from human chromosome 21 Reymond, Alexandre; Camargo, A. A.; Deutsch, Samuel; Stevenson, B. J.; ... Antonarakis, Stylianos 2002
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Chromosome 21 and Down syndrome: the post-sequence era Antonarakis, Stylianos; Reymond, Alexandre; Lyle, Robert; Deutsch, Samuel; Dermitzakis, Emmanouil 2003
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Mutation nomenclature den Dunnen, J. T.; Antonarakis, Stylianos 2003
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A genome-wide survey of human pseudogenes Torrents, David; Suyama, Mikita; Zdobnov, Evgeny; Bork, Peer 2003
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Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia Lewis, C. M.; Blouin, Jean-Louis; Antonarakis, Stylianos 2003
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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
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Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder Segurado, Ricardo; Detera-Wadleigh, S. D.; Levinson, D. F.; Lewis, C. M.; Gill, Michael 2003
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Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes Castelo, Robert; Reymond, Alexandre; Wyss, Carine; Camara, Francisco; ... Eyras, Eduardo 2005
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EGASP: the human ENCODE Genome Annotation Assessment Project Guigo, Roderic; Flicek, Paul; Abril, J. F.; Reymond, Alexandre; ... Reese, M. G. 2006
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GENCODE: producing a reference annotation for ENCODE Harrow, Jennifer; Denoeud, France; Frankish, Adam; Reymond, Alexandre; ... Guigo, Roderic 2006
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Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34 Radhakrishna, Uppala; Ratnamala, Uppala; Gaines, Mathew; Beiraghi, Soraya; ... Nath, S. K. 2006
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Useful 'junk': Alu RNAs in the human transcriptome Hasler, Julien; Samuelsson, T; Strub, Katharina 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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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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Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome Margulies, E. H.; Cooper, G. M.; Asimenos, George 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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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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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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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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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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The annotation of both human and mouse kinomes in UniProtKB/Swiss-Prot: one small step in manual annotation, one giant leap for full comprehension of genomes Braconi Quintaje, Silvia; Orchard, Sandra 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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Ethical issues in governing biobanks: Global Perspectives Elger, Bernice Simone; Biller-Andorno, Nikola; Mauron, Alex; Capron, Alexander 2008
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Modifier effects between regulatory and protein-coding variation Dimas, Antigone S.; Stranger, Barbara E.; Beazley, Claude; Finn, Robert D.; ... Dermitzakis, Emmanouil 2008
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High-resolution mapping of expression-QTLs yields insight into human gene regulation Veyrieras, Jean-Baptiste; Kudaravalli, Sridhar; Kim, Su Yeon; Dermitzakis, Emmanouil; ... Pritchard, Jonathan K. 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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Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium Ganesh, Santhi K. 2009
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Mendelian disorders and multifactorial traits: the big divide or one for all? Antonarakis, Stylianos; Chakravarti, Aravinda; Cohen, J. C.; Hardy, John 2010
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Analysis of in situ pre-mRNA targets of human splicing factor SF1 reveals a function in alternative splicing Corioni, Margherita; Antih, Nicolas; Tanackovic Abbas-Terki, Goranka; Zavolan, Mihaela; Kraemer, Angela 2011
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Genome-sequencing anniversary. Genome literacy Dermitzakis, Emmanouil 2011
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VPS35 mutations in Parkinson disease Vilariño-Güell, Carles; Wider, Christian; Ross, Owen A; Dachsel, Justus C; ... Farrer, Matthew J 2011
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A user's guide to the encyclopedia of DNA elements (ENCODE) ENCODE Project Consortium 2011
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Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes Strawbridge, Rona J 2011
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Genetic and epigenetic contribution to complex traits Kilpinen, Leena Helena; Dermitzakis, Emmanouil 2012
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