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Mutations in TBL1X Are Associated With Central Hypothyroidism.
Heinen, Charlotte A; Losekoot, Monique; Sun, Yu; Watson, Peter J; Fairall, Louise; Joustra, Sjoerd D; Zwaveling-Soonawala, Nitash; Oostdijk, Wilma; van den Akker, Erica L T; Alders, Mariëlle; Santen, Gijs W E; van Rijn, Rick R; Dreschler, Wouter A; Surovtseva, Olga V; Biermasz, Nienke R; Hennekam, Raoul C; Wit, Jan M; Schwabe, John W R; Boelen, Anita; Fliers, Eric; van Trotsenburg, A S Paul.
Afiliación
  • Heinen CA; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • Losekoot M; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • Sun Y; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • Watson PJ; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • Fairall L; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • Joustra SD; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • Zwaveling-Soonawala N; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • Oostdijk W; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • van den Akker EL; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • Alders M; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • Santen GW; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • van Rijn RR; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • Dreschler WA; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • Surovtseva OV; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • Biermasz NR; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • Hennekam RC; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • Wit JM; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • Schwabe JW; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • Boelen A; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • Fliers E; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
  • van Trotsenburg AS; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v
J Clin Endocrinol Metab ; 101(12): 4564-4573, 2016 12.
Article en En | MEDLINE | ID: mdl-27603907

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Hipófisis / Tiroxina / Transducina / Pérdida Auditiva / Hipotiroidismo Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: J Clin Endocrinol Metab Año: 2016 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Hipófisis / Tiroxina / Transducina / Pérdida Auditiva / Hipotiroidismo Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: J Clin Endocrinol Metab Año: 2016 Tipo del documento: Article