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1
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy
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Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy

Isabella 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 Tupler

American Journal of Human Genetics Cambridge v. 90, n. 4, p. 628-635, Apr. 2012

Cambridge 2012

Item não circula. Consulte sua biblioteca.(Acessar)

2
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy
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Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy

Isabella 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 Tupler

American Journal of Human Genetics Cambridge v. 90, n. 4, p. 628-635, Apr. 2012

Cambridge 2012

Item não circula. Consulte sua biblioteca.(Acessar)

3
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

Wright, 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 Inc

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4
Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids
Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids
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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 Acids

Ameur, 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, Ulf

American journal of human genetics, 2012-05, Vol.90 (5), p.809-820 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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5
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
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De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Sleven, 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 Inc

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6
Runs of Homozygosity in European Populations
Runs of Homozygosity in European Populations
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Runs of Homozygosity in European Populations

McQuillan, 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 Inc

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7
Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population
Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population
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Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population

Kingdom, 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 Inc

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8
A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa
A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa
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A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

Breuer, 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, Anand

American journal of human genetics, 2002-06, Vol.70 (6), p.1545-1554 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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9
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts
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Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts

Mirshahi, 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 A

American journal of human genetics, 2022-11, Vol.109 (11), p.2018-2028 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

Wright, Caroline F. ; Quaife, Nicholas M. ; Ramos-Hernández, Laura ; Danecek, Petr ; Ferla, Matteo P. ; Samocha, Kaitlin E. ; Kaplanis, Joanna ; Gardner, Eugene J. ; Eberhardt, Ruth Y. ; Chao, Katherine R. ; Karczewski, Konrad J. ; Morales, Joannella ; Gallone, Giuseppe ; Balasubramanian, Meena ; Banka, Siddharth ; Gompertz, Lianne ; Kerr, Bronwyn ; Kirby, Amelia ; Lynch, Sally A. ; Morton, Jenny E.V. ; Pinz, Hailey ; Sansbury, Francis H. ; Stewart, Helen ; Zuccarelli, Britton D. ; Cook, Stuart A. ; Taylor, Jenny C. ; Juusola, Jane ; Retterer, Kyle ; Firth, Helen V. ; Hurles, Matthew E. ; Lara-Pezzi, Enrique ; Barton, Paul J.R. ; Whiffin, Nicola

American journal of human genetics, 2021-06, Vol.108 (6), p.1083-1094 [Periódico revisado por pares]

United States: Elsevier Inc

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Deste Autor:

  1. Ricci, E
  2. Trevisan, C
  3. Greco, F
  4. Berardinelli, A
  5. Angelini, C

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Humans
  5. Male

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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