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Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
Morinière, Vincent; Dahan, Karin; Hilbert, Pascale; Lison, Marieline; Lebbah, Said; Topa, Alexandra; Bole-Feysot, Christine; Pruvost, Solenn; Nitschke, Patrick; Plaisier, Emmanuelle; Knebelmann, Bertrand; Macher, Marie-Alice; Noel, Laure-Hélène; Gubler, Marie-Claire; Antignac, Corinne; Heidet, Laurence.
Afiliação
  • Morinière V; Departments of Genetics, and Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France;
  • Dahan K; Department of Genetics, Institute of Pathology and Genetics, Gosselies, Belgium;
  • Hilbert P; Department of Genetics, Institute of Pathology and Genetics, Gosselies, Belgium;
  • Lison M; Department of Genetics, Institute of Pathology and Genetics, Gosselies, Belgium;
  • Lebbah S; Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France;
  • Topa A; Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden;
  • Bole-Feysot C; Genomics Platform, Imagine Institute, Paris, France;
  • Pruvost S; Genomics Platform, Imagine Institute, Paris, France;
  • Nitschke P; Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Paris, France;
  • Plaisier E; Assistance Publique des Hôpitaux de Paris, Nephrology Service, Tenon Hospital, Paris, France;
  • Knebelmann B; Nephrology Service and.
  • Macher MA; Assistance Publique des Hôpitaux de Paris, Pediatric Nephrology Service, Robert Debré Hospital, Paris, France; and.
  • Noel LH; Pathology, and.
  • Gubler MC; Institut National de la Santé et de la Recherche Médicale, Inserm UMR 1163, Laboratory of Inherited Kidney Diseases, Imagine Institute, Paris, France.
  • Antignac C; Departments of Genetics, and Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France; Institut National de la Santé et de la Recherche Médicale, Inserm UMR 1163, Laboratory of Inherited Kidney Diseases, Imagine Institut
  • Heidet L; Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France; Pediatric Nephrology Service, Assistance Publique des Hôpitaux de Paris, Necker-Enfants Malades Hospital, Paris, France;
J Am Soc Nephrol ; 25(12): 2740-51, 2014 Dec.
Article em En | MEDLINE | ID: mdl-24854265
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação / Nefrite Hereditária Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação / Nefrite Hereditária Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2014 Tipo de documento: Article