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Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
Duckett, Katie; Williamson, Alice; Kincaid, John W R; Rainbow, Kara; Corbin, Laura J; Martin, Hilary C; Eberhardt, Ruth Y; Huang, Qin Qin; Hurles, Matthew E; He, Wen; Brauner, Raja; Delaney, Angela; Dunkel, Leo; Grinspon, Romina P; Hall, Janet E; Hirschhorn, Joel N; Howard, Sasha R; Latronico, Ana C; Jorge, Alexander A L; McElreavey, Ken; Mericq, Verónica; Merino, Paulina M; Palmert, Mark R; Plummer, Lacey; Rey, Rodolfo A; Rezende, Raíssa C; Seminara, Stephanie B; Salnikov, Kathryn; Banerjee, Indraneel; Lam, Brian Y H; Perry, John R B; Timpson, Nicholas J; Clayton, Peter; Chan, Yee-Ming; Ong, Ken K; O'Rahilly, Stephen.
Afiliación
  • Duckett K; Wellcome-MRC Institute of Metabolic Science, Box 289, Level 4, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
  • Williamson A; Wellcome-MRC Institute of Metabolic Science, Box 289, Level 4, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
  • Kincaid JWR; Wellcome-MRC Institute of Metabolic Science, Box 289, Level 4, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
  • Rainbow K; Wellcome-MRC Institute of Metabolic Science, Box 289, Level 4, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
  • Corbin LJ; MRC Integrative Epidemiology Unit, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK.
  • Martin HC; Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
  • Eberhardt RY; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
  • Huang QQ; Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
  • Hurles ME; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
  • He W; Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA.
  • Brauner R; Pediatric Endocrinology Unit, Hôpital Fondation Adolphe de Rothschild and Université Paris Cité, 25 rue Manin, 75019 Paris, France.
  • Delaney A; Division of Endocrinology, Department of Pediatric Medicine, St. Jude Children's Research Hospital, 262 Danny Thomas Place MS 737, Memphis, TN 38105, USA.
  • Dunkel L; Centre for Endocrinology, William Harvey Research Institute, Barts & the London Medical School, Charterhouse Square, London EC1M 6BQ, UK.
  • Grinspon RP; Centro de Investigaciones Endocrinolègicas "Dr. César Bergadá" (CEDIE), CONICET-FEI-Divisièn de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Gallo 1330, C1425EFD Buenos Aires, Argentina.
  • Hall JE; Clinical Research Branch, Division of Intramural Research, National Institute of Environmental Science, National Institute of Health, 111 TW Alexander Dr, Bldg 101 - A222, Research Triangle Park, NC 27709, USA.
  • Hirschhorn JN; Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA.
  • Howard SR; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Latronico AC; Departamento de Clínica Médica, Av. Dr. Arnaldo, 455 - Cerqueira César, 01246903 São Paulo - SP, Brazil.
  • Jorge AAL; Departamento de Clínica Médica, Av. Dr. Arnaldo, 455 - Cerqueira César, 01246903 São Paulo - SP, Brazil.
  • McElreavey K; Institut Pasteur, Université de Paris, CNRS UMR3738, Human Developmental Genetics, F-75015 Paris, France.
  • Mericq V; Institute of Maternal and Child Research, Faculty of Medicine, University of Chile, Santa Rosa 1234, 2° piso, Santiago 8320000, Chile.
  • Merino PM; Institute of Maternal and Child Research, Faculty of Medicine, University of Chile, Santa Rosa 1234, 2° piso, Santiago 8320000, Chile.
  • Palmert MR; Division of Endocrinology, The Hospital for Sick Children and Departments of Pediatrics and Physiology, University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Plummer L; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Bartlett Hall Extension, 5th Floor, 55 Fruit Street, Boston, MA 02114, USA.
  • Rey RA; Centro de Investigaciones Endocrinolègicas "Dr. César Bergadá" (CEDIE), CONICET-FEI-Divisièn de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Gallo 1330, C1425EFD Buenos Aires, Argentina.
  • Rezende RC; Departamento de Clínica Médica, Av. Dr. Arnaldo, 455 - Cerqueira César, 01246903 São Paulo - SP, Brazil.
  • Seminara SB; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Bartlett Hall Extension, 5th Floor, 55 Fruit Street, Boston, MA 02114, USA.
  • Salnikov K; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Bartlett Hall Extension, 5th Floor, 55 Fruit Street, Boston, MA 02114, USA.
  • Banerjee I; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester M13 9WL, UK.
  • Lam BYH; Wellcome-MRC Institute of Metabolic Science, Box 289, Level 4, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
  • Perry JRB; Wellcome-MRC Institute of Metabolic Science, Box 289, Level 4, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
  • Timpson NJ; MRC Integrative Epidemiology Unit, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK.
  • Clayton P; Paediatric Endocrinology, Royal Manchester Children's Hospital, Oxford Road, Manchester M13 9WL, UK.
  • Chan YM; Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA.
  • Ong KK; MRC Epidemiology Unit, Institute of Metabolic Science, Cambridge Biomedical Campus Box 285, University of Cambridge, Cambridge CB2 0QQ, UK.
  • O'Rahilly S; Wellcome-MRC Institute of Metabolic Science, Box 289, Level 4, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
J Clin Endocrinol Metab ; 108(12): e1580-e1587, 2023 Nov 17.
Article en En | MEDLINE | ID: mdl-37339320
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Pubertad Tardía / Hipogonadismo Tipo de estudio: Prevalence_studies / Risk_factors_studies Límite: Adolescent / Animals / Female / Humans Idioma: En Revista: J Clin Endocrinol Metab Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Pubertad Tardía / Hipogonadismo Tipo de estudio: Prevalence_studies / Risk_factors_studies Límite: Adolescent / Animals / Female / Humans Idioma: En Revista: J Clin Endocrinol Metab Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido