المؤلفون: M. Gryngarten, Seraphim Ce, Ortiz-Cabrera Nv, Macedo Db, Ana Paula Abreu, Cunha M, A. C. Latronico, Piovesan Mr, Travieso-Suarez L, Carolina Ramos, V. N. Brito, Soriano-Guillen L, Argente J, de Castro Leal A, Labarta Ji, Antonini, Ursula B. Kaiser, Luciana Ribeiro Montenegro, B. B. Mendonca, Arcari Aj, Escribano Munoz A, Canton Apm, Corripio R, Guimaraes A, Gagliardi Pc, Benedetti Aff

المصدر: Yearbook of Paediatric Endocrinology.

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Internal medicine, Central precocious puberty, medicine, Biology, Genotype-Phenotype Correlations

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9ebf1d44790211748c6d3368e2fffd5f
https://doi.org/10.1530/ey.18.7.2

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المؤلفون: Seraphim CE; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Canton APM; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Montenegro L; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Piovesan MR; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Macedo DB; Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Cunha M; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Guimaraes A; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Ramos CO; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Benedetti AFF; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., de Castro Leal A; Departamento de Saúde Integrada da Universidade do Estado do Pará (UEPA), Santarém, Pará, Brazil., Gagliardi PC; Division of Endocrinology, Diabetes, and Metabolism, Nemours Children's Clinic, Jacksonville, FL, USA., Antonini SR; Department of Pediatrics, Ribeirao Preto Medical School, University of Sao Paulo, Brazil., Gryngarten M; Centro de Investigaciones Endocrinológicas 'Dr. César Bergadá' (Consejo Nacional de Investigaciones Científicas y Técnicas - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez), Buenos Aires, Argentina., Arcari AJ; Centro de Investigaciones Endocrinológicas 'Dr. César Bergadá' (Consejo Nacional de Investigaciones Científicas y Técnicas - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez), Buenos Aires, Argentina., Abreu AP; Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Kaiser UB; Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Soriano-Guillén L; Department of Pediatrics, IIS-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Spanish PUBERE Registry, Madrid, Spain., Escribano-Muñoz A; Endocrinology Unit, Department of Pediatrics, University Hospital Virgen of Arrixaca, Spanish PUBERE Registry, Murcia, Spain., Corripio R; Pediatric Endocrinology Department, Corporació Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí I3PT. Universitat Autònoma de Barcelona. Spanish PUBERE Registry, Sabadell, Spain., Labarta JI; Pediatric Endocrinology Unit, Department of Pediatrics, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria de Aragón, Spanish PUBERE Registry, Zaragoza, Spain., Travieso-Suárez L; Hospital Infantil Universitario Niño Jesús, Department of Endocrinology and Department of Pediatrics, Universidad Autónoma de Madrid, Spanish PUBERE Registry, CIBER of Obesity and Nutrition (CIBEROBN), Instituto de Salud Carlos III, IMDEA Institute, Madrid, Spain., Ortiz-Cabrera NV; Hospital Infantil Universitario Niño Jesús, Department of Endocrinology and Department of Pediatrics, Universidad Autónoma de Madrid, Spanish PUBERE Registry, CIBER of Obesity and Nutrition (CIBEROBN), Instituto de Salud Carlos III, IMDEA Institute, Madrid, Spain., Argente J; Hospital Infantil Universitario Niño Jesús, Department of Endocrinology and Department of Pediatrics, Universidad Autónoma de Madrid, Spanish PUBERE Registry, CIBER of Obesity and Nutrition (CIBEROBN), Instituto de Salud Carlos III, IMDEA Institute, Madrid, Spain., Mendonca BB; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Brito VN; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Latronico AC; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2021 Mar 25; Vol. 106 (4), pp. 1041-1050.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Puberty, Precocious/*genetics , Ubiquitin-Protein Ligases/*genetics, Case-Control Studies ; Child ; Child, Preschool ; Cohort Studies ; Family ; Female ; Genetic Association Studies ; Humans ; Hypothalamic Diseases/epidemiology ; Hypothalamic Diseases/genetics ; Loss of Function Mutation ; Male ; Mutation, Missense ; Puberty, Precocious/epidemiology

المؤلفون: Abreu AP; Division of Endocrinology, Diabetes, and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, USA., Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, Kaiser UB

المصدر: The New England journal of medicine [N Engl J Med] 2013 Jun 27; Vol. 368 (26), pp. 2467-75. Date of Electronic Publication: 2013 Jun 05.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation* , Mutation, Missense*, Puberty, Precocious/*genetics , Ribonucleoproteins/*genetics, Animals ; Arcuate Nucleus of Hypothalamus/chemistry ; Child ; Child, Preschool ; Exome ; Female ; Genetic Association Studies ; Heterozygote ; Humans ; Hypothalamus/metabolism ; Male ; Mice ; Pedigree ; RNA, Messenger/analysis ; Ribonucleoproteins/deficiency ; Sequence Analysis, DNA ; Ubiquitin-Protein Ligases