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Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains.
Perrin, Aurélien; Van Goethem, Charles; Thèze, Corinne; Puechberty, Jacques; Guignard, Thomas; Lecardonnel, Bérénice; Lacourt, Delphine; Métay, Corinne; Isapof, Arnaud; Whalen, Sandra; Ferreiro, Ana; Arne-Bes, Marie-Christine; Quijano-Roy, Susana; Nectoux, Juliette; Leturcq, France; Richard, Pascale; Larrieux, Marion; Bergougnoux, Anne; Pellestor, Franck; Koenig, Michel; Cossée, Mireille.
Afiliação
  • Perrin A; Molecular Diagnostic Laboratory, Montpellier University Hospital, Montpellier, France; PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France.
  • Van Goethem C; Molecular Diagnostic Laboratory, Montpellier University Hospital, Montpellier, France.
  • Thèze C; Molecular Diagnostic Laboratory, Montpellier University Hospital, Montpellier, France.
  • Puechberty J; Department of Medical Genetics, Arnaud de Villeneuve Hospital, Montpellier, France.
  • Guignard T; Laboratoire de Génétique Chromosomique, Plateforme ChromoStem, CHU de Montpellier, Université de Montpellier, Montpellier, France.
  • Lecardonnel B; Laboratoire de Génétique Chromosomique, Plateforme ChromoStem, CHU de Montpellier, Université de Montpellier, Montpellier, France.
  • Lacourt D; Molecular Diagnostic Laboratory, Montpellier University Hospital, Montpellier, France.
  • Métay C; Assistance Publique-Hôpitaux de Paris (AP-HP), UF Molecular Cardiogenetics and Myogenetics, Sorbonne Université and Sorbonne Université UPMC Paris 06-Inserm UMRS974, Research Center in Myology, Pitié-Salpêtrière Hospital, Paris, France.
  • Isapof A; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.
  • Whalen S; Genetics and Cytogenetics Department, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpétrière, AP-HP, Paris, France.
  • Ferreiro A; AP-HP, Centre de Référence des Pathologies Neuromusculaires Nord-Est-Ile de France, Institut de Myologie, GHU Pitié-Salpêtrière, Paris, France; Basic and Translational Myology Laboratory, Université de Paris BFA, UMR 8251, CNRS, Paris, France.
  • Arne-Bes MC; Department of Neurology, Purpan University Hospital, Toulouse, France.
  • Quijano-Roy S; AP-HP, GH Université Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, Garches, France; Université de Versailles, U1179 INSERM-UVSQ, Montigny, France.
  • Nectoux J; Service de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, AP-HP, Centre-Université de Paris, Paris, France.
  • Leturcq F; Department of Genetics and Molecular Biology, AP-HP, Cochin Hospital, Paris, France.
  • Richard P; Assistance Publique-Hôpitaux de Paris (AP-HP), UF Molecular Cardiogenetics and Myogenetics, Sorbonne Université and Sorbonne Université UPMC Paris 06-Inserm UMRS974, Research Center in Myology, Pitié-Salpêtrière Hospital, Paris, France.
  • Larrieux M; Molecular Diagnostic Laboratory, Montpellier University Hospital, Montpellier, France.
  • Bergougnoux A; PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France.
  • Pellestor F; Laboratoire de Génétique Chromosomique, Plateforme ChromoStem, CHU de Montpellier, Université de Montpellier, Montpellier, France.
  • Koenig M; Molecular Diagnostic Laboratory, Montpellier University Hospital, Montpellier, France; PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France.
  • Cossée M; Molecular Diagnostic Laboratory, Montpellier University Hospital, Montpellier, France; PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France. Electronic address: mireille.cossee@inserm.fr.
J Mol Diagn ; 24(7): 719-726, 2022 07.
Article em En | MEDLINE | ID: mdl-35580751
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Musculares Tipo de estudo: Guideline Limite: Humans Idioma: En Revista: J Mol Diagn Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Musculares Tipo de estudo: Guideline Limite: Humans Idioma: En Revista: J Mol Diagn Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França