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1 |
Material Type: Artigo
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Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular DystrophyIsabella Scionti Francesca Greco; Giulia Ricci; Monica Govi; Patrícia Arashiro; Liliana Vercelli; Angela Berardinelli; Corrado Angelini; Giovanni Antonini; Michelangelo Cao; Antonio Di Muzio; Maurizio Moggio; Lucia Morandi; Enzo Ricci; Carmelo Rodolico; Lucia Ruggiero; Lucio Santoro; Gabriele Siciliano; Giuliano Tomelleri; Carlo Pietro Trevisan; Giuliana Galluzzi; Woodring Wright; Mayana Zatz; Rosella TuplerAmerican Journal of Human Genetics Cambridge v. 90, n. 4, p. 628-635, Apr. 2012Cambridge 2012Item não circula. Consulte sua biblioteca.(Acessar) |
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2 |
Material Type: Artigo
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Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular DystrophyIsabella Scionti Francesca Greco; Giulia Ricci; Monica Govi; Patrícia Arashiro; Liliana Vercelli; Angela Berardinelli; Corrado Angelini; Giovanni Antonini; Michelangelo Cao; Antonio Di Muzio; Maurizio Moggio; Lucia Morandi; Enzo Ricci; Carmelo Rodolico; Lucia Ruggiero; Lucio Santoro; Gabriele Siciliano; Giuliano Tomelleri; Carlo Pietro Trevisan; Giuliana Galluzzi; Woodring Wright; Mayana Zatz; Rosella TuplerAmerican Journal of Human Genetics Cambridge v. 90, n. 4, p. 628-635, Apr. 2012Cambridge 2012Item não circula. Consulte sua biblioteca.(Acessar) |
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3 |
Material Type: Artigo
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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population SettingWright, Caroline F. ; West, Ben ; Tuke, Marcus ; Jones, Samuel E. ; Patel, Kashyap ; Laver, Thomas W. ; Beaumont, Robin N. ; Tyrrell, Jessica ; Wood, Andrew R. ; Frayling, Timothy M. ; Hattersley, Andrew T. ; Weedon, Michael N.American journal of human genetics, 2019-02, Vol.104 (2), p.275-286 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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4 |
Material Type: Artigo
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Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty AcidsAmeur, Adam ; Enroth, Stefan ; Johansson, Åsa ; Zaboli, Ghazal ; Igl, Wilmar ; Johansson, Anna C.V. ; Rivas, Manuel A. ; Daly, Mark J. ; Schmitz, Gerd ; Hicks, Andrew A. ; Meitinger, Thomas ; Feuk, Lars ; van Duijn, Cornelia ; Oostra, Ben ; Pramstaller, Peter P. ; Rudan, Igor ; Wright, Alan F. ; Wilson, James F. ; Campbell, Harry ; Gyllensten, UlfAmerican journal of human genetics, 2012-05, Vol.90 (5), p.809-820 [Periódico revisado por pares]Cambridge, MA: Elsevier IncTexto completo disponível |
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5 |
Material Type: Artigo
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De Novo Mutations in EBF3 Cause a Neurodevelopmental SyndromeSleven, Hannah ; Welsh, Seth J. ; Yu, Jing ; Churchill, Mair E.A. ; Wright, Caroline F. ; Henderson, Alex ; Horvath, Rita ; Rankin, Julia ; Vogt, Julie ; Magee, Alex ; McConnell, Vivienne ; Green, Andrew ; King, Mary D. ; Cox, Helen ; Armstrong, Linlea ; Lehman, Anna ; Nelson, Tanya N. ; Williams, Jonathan ; Clouston, Penny ; Hagman, James ; Németh, Andrea H.American journal of human genetics, 2017-01, Vol.100 (1), p.138-150 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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6 |
Material Type: Artigo
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Runs of Homozygosity in European PopulationsMcQuillan, Ruth ; Leutenegger, Anne-Louise ; Abdel-Rahman, Rehab ; Franklin, Christopher S. ; Pericic, Marijana ; Barac-Lauc, Lovorka ; Smolej-Narancic, Nina ; Janicijevic, Branka ; Polasek, Ozren ; Tenesa, Albert ; MacLeod, Andrew K. ; Farrington, Susan M. ; Rudan, Pavao ; Hayward, Caroline ; Vitart, Veronique ; Rudan, Igor ; Wild, Sarah H. ; Dunlop, Malcolm G. ; Wright, Alan F. ; Campbell, Harry ; Wilson, James F.American journal of human genetics, 2008-09, Vol.83 (3), p.359-372 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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7 |
Material Type: Artigo
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Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general populationKingdom, Rebecca ; Tuke, Marcus ; Wood, Andrew ; Beaumont, Robin N. ; Frayling, Timothy M. ; Weedon, Michael N. ; Wright, Caroline F.American journal of human genetics, 2022-07, Vol.109 (7), p.1308-1316 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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8 |
Material Type: Artigo
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A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis PigmentosaBreuer, Debra K. ; Yashar, Beverly M. ; Filippova, Elena ; Hiriyanna, Suja ; Lyons, Robert H. ; Mears, Alan J. ; Asaye, Bersabell ; Acar, Ceren ; Vervoort, Raf ; Wright, Alan F. ; Musarella, Maria A. ; Wheeler, Patricia ; MacDonald, Ian ; Iannaccone, Alessandro ; Birch, David ; Hoffman, Dennis R. ; Fishman, Gerald A. ; Heckenlively, John R. ; Jacobson, Samuel G. ; Sieving, Paul A. ; Swaroop, AnandAmerican journal of human genetics, 2002-06, Vol.70 (6), p.1545-1554 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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9 |
Material Type: Artigo
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Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohortsMirshahi, Uyenlinh L ; Colclough, Kevin ; Wright, Caroline F ; Wood, Andrew R ; Beaumont, Robin N ; Tyrrell, Jessica ; Laver, Thomas W ; Stahl, Richard ; Golden, Alicia ; Goehringer, Jessica M ; Frayling, Timothy F ; Hattersley, Andrew T ; Carey, David J ; Weedon, Michael N ; Patel, Kashyap AAmerican journal of human genetics, 2022-11, Vol.109 (11), p.2018-2028 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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10 |
Material Type: Artigo
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Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disordersGardner, Eugene J. ; Sifrim, Alejandro ; Lindsay, Sarah J. ; Prigmore, Elena ; Rajan, Diana ; Danecek, Petr ; Gallone, Giuseppe ; Eberhardt, Ruth Y. ; Martin, Hilary C. ; Wright, Caroline F. ; FitzPatrick, David R. ; Firth, Helen V. ; Hurles, Matthew E.American journal of human genetics, 2021-11, Vol.108 (11), p.2186-2194 [Periódico revisado por pares]Elsevier IncTexto completo disponível |