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Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
Acierno, James S; Xu, Cheng; Papadakis, Georgios E; Niederländer, Nicolas J; Rademaker, Jesse D; Meylan, Jenny; Messina, Andrea; Kolesinska, Zofia; Quinton, Richard; Lang-Muritano, Mariarosaria; Bartholdi, Deborah; Halperin, Irene; De Geyter, Christian; Bouligand, Jérôme; Bartoloni, Lucia; Young, Jacques; Santoni, Federico A; Pitteloud, Nelly.
Afiliação
  • Acierno JS; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Xu C; Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.
  • Papadakis GE; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Niederländer NJ; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Rademaker JD; Department of Reproductive Endocrinology, Assistance Publique-Hôpitaux de Paris, Bicêtre Hôpital, Le Kremlin-Bicêtre, France.
  • Meylan J; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Messina A; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Kolesinska Z; Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.
  • Quinton R; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Lang-Muritano M; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Bartholdi D; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
  • Halperin I; Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland.
  • De Geyter C; Translational & Clinical Research Institute, University of Newcastle-upon-Tyne, Newcastle-upon-Tyne, UK.
  • Bouligand J; Division of Pediatric Endocrinology and Diabetology and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.
  • Bartoloni L; Department of Human Genetics, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland.
  • Young J; Department of Endocrinology, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain.
  • Santoni FA; Reproductive Medicine and Gynecological Endocrinology (RME), University Hospital, University of Basel, Basel, Switzerland.
  • Pitteloud N; Department of Molecular Genetics, Pharmacogenomics, and Hormonology, Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Le Kremlin-Bicêtre, France.
Genet Med ; 22(11): 1759-1767, 2020 11.
Article em En | MEDLINE | ID: mdl-32724172

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hipogonadismo / Infertilidade Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Suíça

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hipogonadismo / Infertilidade Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Suíça