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High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
Lemmers, Richard J L F; van der Vliet, Patrick J; Granado, David San Leon; van der Stoep, Nienke; Buermans, Henk; van Schendel, Robin; Schimmel, Joost; de Visser, Marianne; van Coster, Rudy; Jeanpierre, Marc; Laforet, Pascal; Upadhyaya, Meena; van Engelen, Baziel; Sacconi, Sabrina; Tawil, Rabi; Voermans, Nicol C; Rogers, Mark; van der Maarel, Silvère M.
Afiliação
  • Lemmers RJLF; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands.
  • van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands.
  • Granado DSL; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands.
  • van der Stoep N; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands.
  • Buermans H; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands.
  • van Schendel R; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands.
  • Schimmel J; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands.
  • de Visser M; Department of Neurology, Academic Medical Center, Amsterdam, 1105 AZ, The Netherlands.
  • van Coster R; Department of Pediatrics Neurology, Ghent University Hospital, Ghent, 9000, Belgium.
  • Jeanpierre M; APHP-Hôpitaux de Paris, Université de Paris, Paris, 75400, France.
  • Laforet P; Neurology Department, Raymond-Poincaré Hospital, Garches, 92380, France.
  • Upadhyaya M; Department of Medical Genetics, Cardiff University, Cardiff, CF10 3AT, UK.
  • van Engelen B; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500 HB, The Netherlands.
  • Sacconi S; Centre de référence des Maladies neuromusculaires, Nice University Hospital, Nice, 06000, France.
  • Tawil R; Department of Neurology, University of Rochester Medical Center, Rochester, NY, NY 14642, USA.
  • Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500 HB, The Netherlands.
  • Rogers M; Department of Medical Genetics, Cardiff University, Cardiff, CF10 3AT, UK.
  • van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands.
Hum Mol Genet ; 31(5): 748-760, 2022 03 03.
Article em En | MEDLINE | ID: mdl-34559225
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular Facioescapuloumeral Limite: Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Holanda País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular Facioescapuloumeral Limite: Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Holanda País de publicação: Reino Unido