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High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.
Stoupa, Athanasia; Al Hage Chehade, Ghada; Chaabane, Rim; Kariyawasam, Dulanjalee; Szinnai, Gabor; Hanein, Sylvain; Bole-Feysot, Christine; Fourrage, Cécile; Nitschke, Patrick; Thalassinos, Caroline; Pinto, Graziella; Mnif, Mouna; Baron, Sabine; De Kerdanet, Marc; Reynaud, Rachel; Barat, Pascal; Hachicha, Mongia; Belguith, Neila; Polak, Michel; Carré, Aurore.
Afiliación
  • Stoupa A; INSERM U1016, Cochin Institute, Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
  • Al Hage Chehade G; IMAGINE Institute affiliate, Paris, France.
  • Chaabane R; Pediatric Endocrinology, Gynecology and Diabetology Unit, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France.
  • Kariyawasam D; Pediatric Endocrinology, Gynecology and Diabetology Unit, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France.
  • Szinnai G; Laboratory of Human Molecular Genetics, Medicine School, University of Sfax, Sfax, Tunisia.
  • Hanein S; Pediatric Endocrinology, Gynecology and Diabetology Unit, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France.
  • Bole-Feysot C; Pediatric Immunology, Department of Biomedicine, University of Basel, Basel, Switzerland.
  • Fourrage C; Pediatric Endocrinology, University Children's Hospital Basel, University of Basel, Basel, Switzerland.
  • Nitschke P; INSERM U1163, IMAGINE Institute, Translational Genetics, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
  • Thalassinos C; Genomics Platform, INSERM UMR 1163, Paris Descartes Sorbonne Paris Cite University, Imagine Institute, Paris, France.
  • Pinto G; Bioinformatics Platform, Paris Descartes University, IMAGINE Institute, Paris, France.
  • Mnif M; Bioinformatics Platform, Paris Descartes University, IMAGINE Institute, Paris, France.
  • Baron S; Pediatric Endocrinology, Gynecology and Diabetology Unit, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France.
  • De Kerdanet M; Pediatric Endocrinology, Gynecology and Diabetology Unit, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France.
  • Reynaud R; Endocrinology Department, CHU Hedi Chaker, Sfax, Tunisia.
  • Barat P; Pediatrics Department, CHU Nantes, Nantes, France.
  • Hachicha M; Pediatrics Department, CHU Rennes, Rennes, France.
  • Belguith N; Pediatrics Department, CHU La Timone, Marseille, France.
  • Polak M; CHU de Bordeaux, Pediatric Endocrinology, Bordeaux, France.
  • Carré A; Pediatrics Department, CHU Hedi Chaker, Sfax, Tunisia.
Front Endocrinol (Lausanne) ; 11: 545339, 2020.
Article en En | MEDLINE | ID: mdl-33692749
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Hipotiroidismo Congénito Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Front Endocrinol (Lausanne) Año: 2020 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Hipotiroidismo Congénito Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Front Endocrinol (Lausanne) Año: 2020 Tipo del documento: Article País de afiliación: Francia