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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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Whole-genome sequencing of Staphylococcus aureus strain RN4220, a key laboratory strain used in virulence research, identifies mutations that affect not only virulence factors but also the fitness of the strain Nair, Dhanalakshmi; Memmi, Guido; Hernandez, David; Bard, Jonathan; ... Cheung, Ambrose L 2011
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What is expanded in progressive myoclonus epilepsy? Lalioti, M. D.; Scott, Hamish Steele; Antonarakis, Stylianos 1997
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Vitamin deficiencies in humans: can plant science help? Fitzpatrick, Thérésa Bridget; Basset, Gilles J C; Borel, Patrick; Carrari, Fernando; ... Fernie, Alisdair R 2012
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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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TWEAK, a new secreted ligand in the tumor necrosis factor family that weakly induces apoptosis Chicheportiche, Yves; Bourdon, P. R.; Xu, H.; Hsu, Y. M.; ... Browning, J. L. 1997
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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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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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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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The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma Gimelli, Stefania; Beri, Silvana; Drabkin, Harry A.; Gambini, Claudio; ... Gimelli, Giorgio 2009
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The transcriptome of equine peripheral blood mononuclear cells Pacholewska, Alicja; Drögemüller, Michaela; Klukowska-Rötzler, Jolanta; Lanz, Simone; ... Jagannathan, Vidhya 2015
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The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells Talbot, C. C.; Avramopoulos, D.; Gerken, S.; Chakravarti, A.; ... Antonarakis, Stylianos 1995
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The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3 Merla, Giuseppe; Howald, Cedric; Antonarakis, Stylianos; Reymond, Alexandre 2004
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The short Sendai virus leader region controls induction of programmed cell death Garcin, Dominique; Taylor, G; Tanebayashi, K; Compans, R; Kolakofsky, Daniel 1998
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The SH3D1A gene maps to human chromosome 21q22.1-->q22.2 Chen, H.; Antonarakis, Stylianos 1997
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The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family Guipponi, Michel; Tapparel, Caroline; Jousson, Olivier; Scamuffa, N.; ... Antonarakis, Stylianos 2001
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The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103 Neerman Arbez, Marguerite; Antonarakis, Stylianos; Blouin, Jean-Louis; Zeinali, S.; ... Tuddenham, E. G. 1997
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The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes Pulver, A. E.; Wolyniec, P. S.; Housman, D.; Kazazian, H. H.; ... Kempf, L. 1996
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The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study Winkler, Thomas W; Justice, Anne E; Graff, Mariaelisa; Barata, Llilda 2015
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The i5K Initiative: advancing arthropod genomics for knowledge, human health, agriculture, and the environment i5K Consortium 2013
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The human lanosterol synthase gene maps to chromosome 21q22.3 Young, M.; Chen, H.; Lalioti, M. D.; Antonarakis, Stylianos 1996
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The Glanville fritillary genome retains an ancient karyotype and reveals selective chromosomal fusions in Lepidoptera Lehtonen, Rainer; Waterhouse, Robert; Holm, Liisa; Auvinen, Petri; Frilander, Mikko J 2014
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The genes for MHC class II regulatory factors RFX1 and RFX2 are located on the short arm of chromosome 19 Pugliatti, L.; Derre, J.; Berger, R.; Ucla, C.; ... Mach, Bernard 1992
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The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region Radhakrishna, U.; Blouin, Jean-Louis; Mehenni, H.; Mehta, T. Y.; ... Antonarakis, Stylianos 1997
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The ecoresponsive genome of Daphnia pulex Colbourne, John K 2011
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The dose of a putative ubiquitin-specific protease affects position-effect variegation in Drosophila melanogaster Henchoz, Sandra; De Rubertis, Francesco; Pauli, Daniel; Spierer, Pierre 1996
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The DNA sequence of human chromosome 21 Hattori, M. 2000
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The bovine lactation genome: insights into the evolution of mammalian milk Lemay, Danielle G.; Lynn, David J.; Martin, William F.; Neville, Margaret C.; ... Rijnkels, Monique 2009
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Single-minded and Down syndrome? Chen, H.; Chrast, R.; Rossier, Colette; Gos, A.; ... Minoshima, S. 1995
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Similar level of polyteny in bands and interbands of Drosophila giant chromosomes Spierer-Royer, Anne; Spierer, Pierre 1984
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Sequencing of Culex quinquefasciatus establishes a platform for mosquito comparative genomics Arensburger, Peter 2010
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Report of the Fourth International Workshop on Human Chromosome 21 Delabar, J. M.; Creau, N.; Sinet, P. M.; Ritter, O.; ... Patterson, D. 1993
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Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing Ratnamala, Uppala; Lyle, Robert; Rawal, Rakesh; Singh, Raminder; ... Radhakrishna, Uppala 2011
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Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region Berry, A.; Scott, Hamish Steele; Kudoh, J.; Talior, I.; ... Bonne-Tamir, B. 2000
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Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3 Scott, Hamish Steele; Antonarakis, Stylianos; Mittaz, L.; Lalioti, M. D.; ... Gal, A. 2000
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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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Primary immunodeficiency mutation databases Vihinen, M.; Arredondo-Vega, F. X.; Casanova, J. L.; Etzioni, A.; ... Smith, C. I. 2001
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Post genomic decade - the epigenome and exposome challenges Giacobino, Ariane 2011
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Positive control of the two-component RcsC/B signal transduction network by DjlA: a member of the DnaJ family of molecular chaperones in Escherichia coli Kelley, William; Georgopoulos, C. 1997
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Positional identification of variants of Adamts16 linked to inherited hypertension Joe, Bina; Saad, Yasser; Dhindaw, Seema; Lee, Norman H.; ... Bouchard, Claude 2009
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Polymorphisms in the Cd22 gene of inbred mouse strains Lajaunias, Frédéric; Ibnou-Zekri, Nabila; Fossati-Jimack, Liliane; Chicheportiche, Yves; ... Izui, Shozo 1999
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Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4 Mehenni, H.; Blouin, Jean-Louis; Radhakrishna, U.; Bhardwaj, S. S.; ... Antonarakis, Stylianos 1997
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Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness Masmoudi, S.; Antonarakis, Stylianos; Schwede, T.; Ghorbel, A. M.; ... Guipponi, Michel 2001
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New complete genome sequences of human rhinoviruses shed light on their phylogeny and genomic features Tapparel, Caroline; Junier, Thomas; Gerlach, Daniel; Cordey, Samuel; ... Kaiser, Laurent 2007
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Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia Bartoloni, Lucia; Blouin, Jean-Louis; Pan, Yanzhen; Gehrig, Corinne; ... Antonarakis, Stylianos 2002
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Mutations in GJB6 cause hidrotic ectodermal dysplasia Lamartine, J.; Munhoz Essenfelder, G.; Kibar, Z.; Lanneluc, I.; ... Waksman, G. 2000
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Molecular mapping of genetic and chromomeric units in Drosophila melanogaster Spierer, Pierre; Spierer, Anne; Bender, W.; Hogness, D. S. 1983
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Molecular etiology of factor VIII deficiency in hemophilia A Antonarakis, Stylianos; Kazazian, H. H.; Tuddenham, E. G. 1995
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Molecular biology of squamous cell carcinoma of the anus: a comparison of HIV-positive and HIV-negative patients Gervaz, Pascal; Hahnloser, Dieter; Wolff, Bruce G; Anderson, Sarah A; ... Thibodeau, Stephen N 2004
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