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Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.
Xu, Cheng; Cassatella, Daniele; van der Sloot, Almer M; Quinton, Richard; Hauschild, Michael; De Geyter, Christian; Flück, Christa; Feller, Katrin; Bartholdi, Deborah; Nemeth, Attila; Halperin, Irene; Pekic Djurdjevic, Sandra; Maeder, Philippe; Papadakis, Georgios; Dwyer, Andrew A; Marino, Laura; Favre, Lucie; Pignatelli, Duarte; Niederländer, Nicolas J; Acierno, James; Pitteloud, Nelly.
Afiliação
  • Xu C; Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland.
  • Cassatella D; Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland.
  • van der Sloot AM; Institute for Research in Immunology and Cancer, University of Montreal, Montreal, Canada.
  • Quinton R; Institute for Genetic Medicine, University of Newcastle-on-Tyne, Newcastle-on Tyne, UK.
  • Hauschild M; Endocrinology-Diabetology Unit, Department of Paediatrics, Lausanne University Hospital, Lausanne, Switzerland.
  • De Geyter C; Clinic of Gynecological Endocrinology and Reproductive Medicine, University Hospital, University of Basel, Basel, Switzerland.
  • Flück C; Division of Pediatric Endocrinology and Diabetology, Department of Pediatrics, and Department of Clinical Research, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
  • Feller K; Division of Endocrinology, Diabetes, and Clinical Nutrition, Inselspital, Bern University Hospital, and University of Bern, Bern, Switzerland.
  • Bartholdi D; Department of Human Genetics, Inselspital, Bern University Hospital, and University of Bern, Bern, Switzerland.
  • Nemeth A; Department of Endocrinology, St John's Hospital, Budapest, Hungary.
  • Halperin I; Department of Endocrinology, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain.
  • Pekic Djurdjevic S; Clinic of Endocrinology, Diabetes, and Diseases of Metabolism, University Clinical Center, Belgrade, Serbia.
  • Maeder P; Department of Radiology, Lausanne University Hospital, Lausanne, Switzerland.
  • Papadakis G; Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland.
  • Dwyer AA; Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland.
  • Marino L; Institute of Higher Education and Research in Healthcare, University of Lausanne, Lausanne, Switzerland.
  • Favre L; Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland.
  • Pignatelli D; Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland.
  • Niederländer NJ; Department of Endocrinology, Hospital S João, Porto, Portugal.
  • Acierno J; Department of Experimental Biology, Faculty of Medicine of the University of Porto, Porto, Portugal.
  • Pitteloud N; CGC Genetics-Clinical and Research Institute, Porto, Portugal.
Genet Med ; 20(8): 872-881, 2018 08.
Article em En | MEDLINE | ID: mdl-29144511
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Helicases / Proteínas de Ligação a DNA / Síndrome CHARGE / Hipogonadismo Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Suíça
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Helicases / Proteínas de Ligação a DNA / Síndrome CHARGE / Hipogonadismo Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Suíça