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Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Chatron, Nicolas; Cassinari, Kevin; Quenez, Olivier; Baert-Desurmont, Stéphanie; Bardel, Claire; Buisine, Marie-Pierre; Calpena, Eduardo; Capri, Yline; Corominas Galbany, Jordi; Diguet, Flavie; Edery, Patrick; Isidor, Bertrand; Labalme, Audrey; Le Caignec, Cedric; Lévy, Jonathan; Lecoquierre, François; Lindenbaum, Pierre; Pichon, Olivier; Rollat-Farnier, Pierre-Antoine; Simonet, Thomas; Saugier-Veber, Pascale; Tabet, Anne-Claude; Toutain, Annick; Wilkie, Andrew O M; Lesca, Gaetan; Sanlaville, Damien; Nicolas, Gaël; Schluth-Bolard, Caroline.
Afiliação
  • Chatron N; Genetics Department, Hospices Civils de Lyon, Lyon, France.
  • Cassinari K; GENDEV Team, CRNL, INSERM U1028, CNRS UMR5292, UCBL1, Lyon, France.
  • Quenez O; Department of Genetics and CNR-MAJ, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Baert-Desurmont S; Department of Genetics and CNR-MAJ, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Bardel C; Department of Genetics, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Buisine MP; Bioinformatics group of the Lyon University Hospital NGS facility, Groupement Hospitalier Est, Lyon, France.
  • Calpena E; Biostatistics and Bioinformatics Department, HCL, Lyon, France.
  • Capri Y; Department of Biochemistry and Molecular Biology, JPA Research Center, Inserm UMR-S 1172, Lille University, Lille University Hospital, Lille, France.
  • Corominas Galbany J; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Diguet F; Genetics Department, Clinical Genetics Unit, Hôpital Universitaire Robert Debré, Paris, France.
  • Edery P; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Isidor B; Genetics Department, Hospices Civils de Lyon, Lyon, France.
  • Labalme A; GENDEV Team, CRNL, INSERM U1028, CNRS UMR5292, UCBL1, Lyon, France.
  • Le Caignec C; Genetics Department, Hospices Civils de Lyon, Lyon, France.
  • Lévy J; GENDEV Team, CRNL, INSERM U1028, CNRS UMR5292, UCBL1, Lyon, France.
  • Lecoquierre F; Genetics Department, CHU Nantes, Nantes, France.
  • Lindenbaum P; Genetics Department, Hospices Civils de Lyon, Lyon, France.
  • Pichon O; Genetics Department, CHU Nantes, Nantes, France.
  • Rollat-Farnier PA; INSERM UMR_S915, Institut du thorax, Nantes University, Nantes, France.
  • Simonet T; Genetics Department, Cytogenetics Unit, Hôpital Universitaire Robert Debré, Paris, France.
  • Saugier-Veber P; Department of Genetics, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Tabet AC; INSERM, UMR_S1087, Institut du thorax, Nantes, France.
  • Toutain A; CNRS, UMR 6291, Nantes, France.
  • Wilkie AOM; Genetics Department, CHU Nantes, Nantes, France.
  • Lesca G; Genetics Department, Hospices Civils de Lyon, Lyon, France.
  • Sanlaville D; Bioinformatics group of the Lyon University Hospital NGS facility, Groupement Hospitalier Est, Lyon, France.
  • Nicolas G; Cellular Biotechnology Center, Hospices Civils de Lyon, Lyon, France.
  • Schluth-Bolard C; Nerve-Muscle Interactions Team, Institut NeuroMyoGène CNRS UMR 5310-INSERM U1217-Université Claude Bernard Lyon 1, Lyon, France.
Hum Mutat ; 40(11): 1993-2000, 2019 11.
Article em En | MEDLINE | ID: mdl-31230393
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Retroelementos / Predisposição Genética para Doença / Estudos de Associação Genética Tipo de estudo: Clinical_trials / Diagnostic_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 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: Testes Genéticos / Retroelementos / Predisposição Genética para Doença / Estudos de Associação Genética Tipo de estudo: Clinical_trials / Diagnostic_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: França