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Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Cohen, Enzo; Belkacem, Sabrina; Fedala, Soumeya; Collot, Nathalie; Khallouf, Eliane; Dastot, Florence; Polak, Michel; Duquesnoy, Philippe; Brioude, Frederic; Rose, Sophie; Viot, Géraldine; Soleyan, Aude; Carel, Jean-Claude; Sobrier, Marie-Laure; Chanson, Philippe; Gatelais, Frédérique; Heinrichs, Claudine; Kaffel, Noureddine; Coutant, Regis; Savas Erdeve, Senay; Kurnaz, Erdal; Aycan, Zehra; Thalassinos, Caroline; Lyonnet, Stanislas; Siklar, Zeynep; Berberoglu, Merih; Brachet, Cécile; Amselem, Serge; Legendre, Marie.
Afiliação
  • Cohen E; Genetic Department, INSERM UMR_S933, Hôpital Trousseau, Sorbonne Université, AP-HP, Paris, France.
  • Belkacem S; Genetic Department, INSERM UMR_S933, Hôpital Trousseau, Sorbonne Université, AP-HP, Paris, France.
  • Fedala S; Endocrinology Department, Hôpital Lamine Debaghine, CHU Bab El Oued, Bab El Oued, Algeria.
  • Collot N; Genetic Department, INSERM UMR_S933, Hôpital Trousseau, Sorbonne Université, AP-HP, Paris, France.
  • Khallouf E; Pediatric Endocrinology and Diabetology, Hôtel Dieu de France, Beyrouth, Lebanon.
  • Dastot F; Genetic Department, INSERM UMR_S933, Hôpital Trousseau, Sorbonne Université, AP-HP, Paris, France.
  • Polak M; Pediatric Endocrinology Department, Hôpital Necker, AP-HP, Paris, France.
  • Duquesnoy P; Genetic Department, INSERM UMR_S933, Hôpital Trousseau, Sorbonne Université, AP-HP, Paris, France.
  • Brioude F; Endocrine Investigation Department, Hôpital Trousseau, AP-HP, Paris, France.
  • Rose S; Genetic Department, INSERM UMR_S933, Hôpital Trousseau, Sorbonne Université, AP-HP, Paris, France.
  • Viot G; Prenatal Diagnosis and Foetal Medicine Unit, CHU Paris Centre, AP-HP, Paris, France.
  • Soleyan A; Genetic Department, INSERM UMR_S933, Hôpital Trousseau, Sorbonne Université, AP-HP, Paris, France.
  • Carel JC; Pediatric Endocrinology Department, Hôpital Robert Debré, AP-HP, Paris, France.
  • Sobrier ML; Genetic Department, INSERM UMR_S933, Hôpital Trousseau, Sorbonne Université, AP-HP, Paris, France.
  • Chanson P; Endocrinology and Reproductive Medicine Department and Rare Pituitary Disorder Reference Center, Hôpital de Bicêtre, AP-HP, Le Kremlin-Bicêtre, France.
  • Gatelais F; UMR_S1885, Faculté de Médecine Paris-Sud, Univ Paris Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, France.
  • Heinrichs C; Diabetology and Nutrition Unit, CHU d'Angers, Angers, France.
  • Kaffel N; Endocrinology Department, Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium.
  • Coutant R; Endocrinology Department, Dar Attabib, Complexe Médical Multidisciplinaire, Sfax, Tunisia.
  • Savas Erdeve S; Diabetology and Nutrition Unit, CHU d'Angers, Angers, France.
  • Kurnaz E; Clinic of Pediatric Endocrinology, Dr Sami Ulus Obstetrics and Gynecology, Children's Health and Disease, Health Implementation and Research Center, Health Sciences University, Ankara, Turkey.
  • Aycan Z; Clinic of Pediatric Endocrinology, Dr Sami Ulus Obstetrics and Gynecology, Children's Health and Disease, Health Implementation and Research Center, Health Sciences University, Ankara, Turkey.
  • Thalassinos C; Clinic of Pediatric Endocrinology, Dr Sami Ulus Obstetrics and Gynecology, Children's Health and Disease, Health Implementation and Research Center, Health Sciences University, Ankara, Turkey.
  • Lyonnet S; Pediatric Endocrinology Department, Hôpital Necker, AP-HP, Paris, France.
  • Siklar Z; Genetics Department and Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Berberoglu M; Department of Pediatric Endocrinology, Medical School of Ankara University, Ankara, Turkey.
  • Brachet C; Department of Pediatric Endocrinology, Medical School of Ankara University, Ankara, Turkey.
  • Amselem S; Endocrinology Department, Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium.
  • Legendre M; Genetic Department, INSERM UMR_S933, Hôpital Trousseau, Sorbonne Université, AP-HP, Paris, France.
Hum Mutat ; 40(11): 2033-2043, 2019 11.
Article em En | MEDLINE | ID: mdl-31231873
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de Hormônios Reguladores de Hormônio Hipofisário / Receptores de Neuropeptídeos / Predisposição Genética para Doença / Nanismo Hipofisário / Estudos de Associação Genética / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mutat Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de Hormônios Reguladores de Hormônio Hipofisário / Receptores de Neuropeptídeos / Predisposição Genética para Doença / Nanismo Hipofisário / Estudos de Associação Genética / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mutat Ano de publicação: 2019 Tipo de documento: Article