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Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.
Guran, Tulay; Tolhurst, Gwen; Bereket, Abdullah; Rocha, Nuno; Porter, Keith; Turan, Serap; Gribble, Fiona M; Kotan, L Damla; Akcay, Teoman; Atay, Zeynep; Canan, Husniye; Serin, Ayse; O'Rahilly, Stephen; Reimann, Frank; Semple, Robert K; Topaloglu, A Kemal.
Afiliación
  • Guran T; Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Res
  • Tolhurst G; Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Res
  • Bereket A; Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Res
  • Rocha N; Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Res
  • Porter K; Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Res
  • Turan S; Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Res
  • Gribble FM; Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Res
  • Kotan LD; Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Res
  • Akcay T; Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Res
  • Atay Z; Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Res
  • Canan H; Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Res
  • Serin A; Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Res
  • O'Rahilly S; Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Res
  • Reimann F; Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Res
  • Semple RK; Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Res
  • Topaloglu AK; Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Res
J Clin Endocrinol Metab ; 94(10): 3633-3639, 2009 Oct.
Article en En | MEDLINE | ID: mdl-19755480
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fragmentos de Péptidos / Neuroquinina B / Sustancia P / Receptores de Neuroquinina-3 / Mutación Missense / Amenorrea / Hipogonadismo Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: J Clin Endocrinol Metab Año: 2009 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fragmentos de Péptidos / Neuroquinina B / Sustancia P / Receptores de Neuroquinina-3 / Mutación Missense / Amenorrea / Hipogonadismo Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: J Clin Endocrinol Metab Año: 2009 Tipo del documento: Article