Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods.

Coppin, Lucie; Plouvier, Pascal; Crépin, Michel; Jourdain, Anne-Sophie; Ait Yahya, Emilie; Richard, Stéphane; Bressac-de Paillerets, Brigitte; Cardot-Bauters, Catherine; Lejeune, Sophie; Leclerc, Julie; Pigny, Pascal

Coppin, Lucie; Plouvier, Pascal; Crépin, Michel; Jourdain, Anne-Sophie; Ait Yahya, Emilie; Richard, Stéphane; Bressac-de Paillerets, Brigitte; Cardot-Bauters, Catherine; Lejeune, Sophie; Leclerc, Julie; Pigny, Pascal.

Afiliação

Coppin L; UMR-S 1172-Jean-Pierre Aubert Research Center, University of Lille, Lille, France; INSERM, UMR-S 1172, Team on Mucins, Epithelial Differentiation and Carcinogenesis, Lille, France; Department of Biochemistry and Molecular Biology, Centre Hospitalier Régional et Universitaire de Lille, Lille, France.
Plouvier P; Department of Biochemistry and Molecular Biology, Centre Hospitalier Régional et Universitaire de Lille, Lille, France.
Crépin M; Department of Biochemistry and Molecular Biology, Centre Hospitalier Régional et Universitaire de Lille, Lille, France.
Jourdain AS; Department of Biochemistry and Molecular Biology, Centre Hospitalier Régional et Universitaire de Lille, Lille, France; Research Team on Rare and Developmental Metabolic Diseases (RADEME), University of Lille, Lille, France.
Ait Yahya E; Department of Biochemistry and Molecular Biology, Centre Hospitalier Régional et Universitaire de Lille, Lille, France.
Richard S; Department of Genetic Oncology, Ecole Pratique des Hautes Etudes, PSL Research University, INSERM U1186, Gustave Roussy Cancer Campus, Villejuif, France; National Expert Center for Rare Cancers (PREDIR), Bicêtre Hospital, Le Kremlin-Bicêtre, France.
Bressac-de Paillerets B; Department of Biopathology, INSERM U1186, Gustave Roussy, Université Paris-Saclay, Villejuif, France.
Cardot-Bauters C; Department of Endocrinology, Centre Hospitalier Régional et Universitaire de Lille, Lille, France.
Lejeune S; Department of Clinical Genetics, Centre Hospitalier Régional et Universitaire de Lille, Lille, France.
Leclerc J; UMR-S 1172-Jean-Pierre Aubert Research Center, University of Lille, Lille, France; INSERM, UMR-S 1172, Team on Mucins, Epithelial Differentiation and Carcinogenesis, Lille, France; Department of Biochemistry and Molecular Biology, Centre Hospitalier Régional et Universitaire de Lille, Lille, France.
Pigny P; UMR-S 1172-Jean-Pierre Aubert Research Center, University of Lille, Lille, France; INSERM, UMR-S 1172, Team on Mucins, Epithelial Differentiation and Carcinogenesis, Lille, France; Department of Biochemistry and Molecular Biology, Centre Hospitalier Régional et Universitaire de Lille, Lille, France.

J Mol Diagn ; 21(3): 462-470, 2019 05.

Article em En | MEDLINE | ID: mdl-30731206

Assuntos

Sequenciamento de Nucleotídeos em Larga Escala/métodos; Mosaicismo; Mutação/genética; Proteína Supressora de Tumor Von Hippel-Lindau/genética; Adolescente; Adulto; Humanos; Limite de Detecção; Masculino; Pessoa de Meia-Idade; Plasmídeos/genética; Reprodutibilidade dos Testes

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína Supressora de Tumor Von Hippel-Lindau / Sequenciamento de Nucleotídeos em Larga Escala / Mosaicismo / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Humans / Male / Middle aged Idioma: En Revista: J Mol Diagn Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2019 Tipo de documento: Article País de afiliação: França

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