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Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
Canton, Ana P M; Tinano, Flávia R; Guasti, Leonardo; Montenegro, Luciana R; Ryan, Fiona; Shears, Deborah; de Melo, Maria Edna; Gomes, Larissa G; Piana, Mariana P; Brauner, Raja; Espino-Aguilar, Rafael; Escribano-Muñoz, Arancha; Paganoni, Alyssa; Read, Jordan E; Korbonits, Márta; Seraphim, Carlos E; Costa, Silvia S; Krepischi, Ana Cristina; Jorge, Alexander A L; David, Alessia; Kaisinger, Lena R; Ong, Ken K; Perry, John R B; Abreu, Ana Paula; Kaiser, Ursula B; Argente, Jesús; Mendonca, Berenice B; Brito, Vinicius N; Howard, Sasha R; Latronico, Ana Claudia.
Afiliação
  • Canton APM; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics LIM/42, University of Sao Paulo, Sao Paulo, Brazil.
  • Tinano FR; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics LIM/42, University of Sao Paulo, Sao Paulo, Brazil.
  • Guasti L; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
  • Montenegro LR; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics LIM/42, University of Sao Paulo, Sao Paulo, Brazil.
  • Ryan F; Oxford Children's Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • de Melo ME; League of Childhood Obesity, University of Sao Paulo, Sao Paulo, Brazil.
  • Gomes LG; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics LIM/42, University of Sao Paulo, Sao Paulo, Brazil.
  • Piana MP; Children's State Hospital of Vila Velha, Vila Velha, Brazil.
  • Brauner R; Fondation Ophtalmologique Adolphe de Rothschild and Université de Paris, Paris, France.
  • Espino-Aguilar R; Hospital Universitario Virgen de Valmes, Universidad de Sevilla, Sevilla, Spain.
  • Escribano-Muñoz A; Endocrinology Unit, Department of Pediatrics, Virgen de la Arrixaca University Hospital, Murcia, Spain.
  • Paganoni A; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
  • Read JE; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
  • Korbonits M; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
  • Seraphim CE; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics LIM/42, University of Sao Paulo, Sao Paulo, Brazil.
  • Costa SS; Discipline of Endocrinology and Metabolism, Clinicas Hospital, School of Medicine and Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil.
  • Krepischi AC; Discipline of Endocrinology and Metabolism, Clinicas Hospital, School of Medicine and Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil.
  • Jorge AAL; Genetic Endocrinology Unit LIM/25, University of Sao Paulo, Sao Paulo, Brazil.
  • David A; Centre for Integrative Systems Biology and Bioinformatics, Department of Life Sciences, Imperial College London, London, UK.
  • Kaisinger LR; Medical Research Council Epidemiology Unit, Wellcome-Medical Research Council Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, UK.
  • Ong KK; Medical Research Council Epidemiology Unit, Wellcome-Medical Research Council Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, UK.
  • Perry JRB; Medical Research Council Epidemiology Unit, Wellcome-Medical Research Council Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, UK.
  • Abreu AP; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
  • Kaiser UB; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
  • Argente J; Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain; Department of Pediatrics and Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición, In
  • Mendonca BB; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics LIM/42, University of Sao Paulo, Sao Paulo, Brazil.
  • Brito VN; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics LIM/42, University of Sao Paulo, Sao Paulo, Brazil.
  • Howard SR; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK; Department of Paediatric Endocrinology, Barts Health NHS Trust, London, UK.
  • Latronico AC; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics LIM/42, University of Sao Paulo, Sao Paulo, Brazil. Electronic address: anacl@usp.br.
Lancet Diabetes Endocrinol ; 11(8): 545-554, 2023 08.
Article em En | MEDLINE | ID: mdl-37385287

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Puberdade Precoce / Síndrome de Rett Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Child / Female / Humans / Male País/Região como assunto: America do sul / Brasil Idioma: En Revista: Lancet Diabetes Endocrinol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Brasil

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Puberdade Precoce / Síndrome de Rett Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Child / Female / Humans / Male País/Região como assunto: America do sul / Brasil Idioma: En Revista: Lancet Diabetes Endocrinol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Brasil