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KLB, encoding ß-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
Xu, Cheng; Messina, Andrea; Somm, Emmanuel; Miraoui, Hichem; Kinnunen, Tarja; Acierno, James; Niederländer, Nicolas J; Bouilly, Justine; Dwyer, Andrew A; Sidis, Yisrael; Cassatella, Daniele; Sykiotis, Gerasimos P; Quinton, Richard; De Geyter, Christian; Dirlewanger, Mirjam; Schwitzgebel, Valérie; Cole, Trevor R; Toogood, Andrew A; Kirk, Jeremy Mw; Plummer, Lacey; Albrecht, Urs; Crowley, William F; Mohammadi, Moosa; Tena-Sempere, Manuel; Prevot, Vincent; Pitteloud, Nelly.
Afiliação
  • Xu C; Service of Endocrinology, Diabetology & Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Messina A; Service of Endocrinology, Diabetology & Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Somm E; Service of Endocrinology, Diabetology & Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Miraoui H; Service of Endocrinology, Diabetology & Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Kinnunen T; Department of Biology, School of Applied Sciences, University of Huddersfield, Huddersfield, UK.
  • Acierno J; Service of Endocrinology, Diabetology & Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Niederländer NJ; Service of Endocrinology, Diabetology & Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Bouilly J; Service of Endocrinology, Diabetology & Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Dwyer AA; Service of Endocrinology, Diabetology & Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Sidis Y; University of Lausanne Institute of Higher Education and Research in Healthcare, Lausanne, Switzerland.
  • Cassatella D; Service of Endocrinology, Diabetology & Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Sykiotis GP; Service of Endocrinology, Diabetology & Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Quinton R; Service of Endocrinology, Diabetology & Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • De Geyter C; Institute for Genetic Medicine, University of Newcastle-on-Tyne, Newcastle-on Tyne, UK.
  • Dirlewanger M; Clinic of Gynecological Endocrinology and Reproductive Medicine, University Hospital, University of Basel, Basel, Switzerland.
  • Schwitzgebel V; Pediatric Endocrine and Diabetes Unit, Children's Hospital, University Hospitals and Faculty of Medicine, Geneva, Switzerland.
  • Cole TR; Pediatric Endocrine and Diabetes Unit, Children's Hospital, University Hospitals and Faculty of Medicine, Geneva, Switzerland.
  • Toogood AA; Department of Clinical Genetics, Birmingham Women's Hospital, Birmingham, UK.
  • Kirk JM; Department of Endocrinology, Queen Elizabeth Hospital, University Hospitals Birmingham, Birmingham, UK.
  • Plummer L; Department of Endocrinology, Birmingham Children's Hospital, Birmingham, UK.
  • Albrecht U; National Center for Translational Research in Reproduction and Infertility, Harvard Reproductive Endocrine Sciences Center of the Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Crowley WF; Department of Biology, Biochemistry, Faculty of Science, University of Fribourg, Fribourg, Switzerland.
  • Mohammadi M; National Center for Translational Research in Reproduction and Infertility, Harvard Reproductive Endocrine Sciences Center of the Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Tena-Sempere M; Department of Biochemistry & Molecular Pharmacology, New York University School of Medicine, New York, NY, USA.
  • Prevot V; Department of Cell Biology, Physiology and Immunology, University of Cordoba, Cordoba, Spain.
  • Pitteloud N; Instituto Maimonides de Investigación Biomédica de Cordoba (IMIBIC/HURS), Cordoba, Spain.
EMBO Mol Med ; 9(10): 1379-1397, 2017 10.
Article em En | MEDLINE | ID: mdl-28754744
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hormônio Liberador de Gonadotropina / Síndrome de Kallmann / Receptor Tipo 1 de Fator de Crescimento de Fibroblastos / Fatores de Crescimento de Fibroblastos / Proteínas de Membrana Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: EMBO Mol Med Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Suíça País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hormônio Liberador de Gonadotropina / Síndrome de Kallmann / Receptor Tipo 1 de Fator de Crescimento de Fibroblastos / Fatores de Crescimento de Fibroblastos / Proteínas de Membrana Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: EMBO Mol Med Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Suíça País de publicação: Reino Unido