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Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.
Lemmers, Richard Jlf; van der Vliet, Patrick J; Balog, Judit; Goeman, Jelle J; Arindrarto, Wibowo; Krom, Yvonne D; Straasheijm, Kirsten R; Debipersad, Rashmie D; Özel, Gizem; Sowden, Janet; Snider, Lauren; Mul, Karlien; Sacconi, Sabrina; van Engelen, Baziel; Tapscott, Stephen J; Tawil, Rabi; van der Maarel, Silvère M.
Afiliação
  • Lemmers RJ; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands. R.J.L.F.Lemmers@lumc.nl.
  • van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Balog J; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Goeman JJ; Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, Netherlands.
  • Arindrarto W; Department of Molecular Epidemiology, Leiden University Medical Center, Leiden, Netherlands.
  • Krom YD; Department of Neurology, Leiden University Medical Center, Leiden, Netherlands.
  • Straasheijm KR; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Debipersad RD; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Özel G; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Sowden J; Neuromuscular Disease Unit, Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
  • Snider L; Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
  • Mul K; Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands.
  • Sacconi S; Centre de référence des Maladies neuromusculaires and CNRS UMR6543, Nice University Hospital, Nice, France.
  • van Engelen B; Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands.
  • Tapscott SJ; Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
  • Tawil R; Neuromuscular Disease Unit, Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
  • van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands. S.M.van_der_Maarel@lumc.nl.
Eur J Hum Genet ; 26(1): 94-106, 2018 01.
Article em En | MEDLINE | ID: mdl-29162933
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Homeodomínio / Penetrância / Distrofia Muscular Facioescapuloumeral / Genes Modificadores Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Homeodomínio / Penetrância / Distrofia Muscular Facioescapuloumeral / Genes Modificadores Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article