المؤلفون: Valente FOF; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Camacho CP; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Lindsey SC; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Yang JH; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Kunii IS; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Santos RB; Division of Endocrinology, Pontifícia Universidade Católica de Campinas, Campinas, São Paulo, Brazil., Kizys MML; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Cerutti JM; Genetic Basis of Thyroid Tumor Laboratory, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Dias-da-Silva MR; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Maciel RMB; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63576. Date of Electronic Publication: 2024 Feb 26.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Multiple Endocrine Neoplasia Type 2a*/genetics , Multiple Endocrine Neoplasia Type 2a*/pathology , Proto-Oncogene Proteins c-ret*/genetics , Mosaicism* , Germ-Line Mutation*/genetics , Pedigree*, Humans ; Female ; Male ; Adult ; Amino Acid Substitution ; Thyroid Neoplasms/genetics ; Thyroid Neoplasms/pathology ; Genotype ; Exome Sequencing

المؤلفون: Ferreira LGA; Laboratory of Molecular and Translational Endocrinology (LEMT), Endocrinology Division, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.; Murdoch Children's Research Institute, Melbourne, Australia., Kizys MML; Laboratory of Molecular and Translational Endocrinology (LEMT), Endocrinology Division, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Gama GAC; Laboratory of Molecular and Translational Endocrinology (LEMT), Endocrinology Division, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Pachernegg S; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia., Robevska G; Murdoch Children's Research Institute, Melbourne, Australia., Sinclair AH; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia., Ayers KL; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia., Dias-da-Silva MR; Laboratory of Molecular and Translational Endocrinology (LEMT), Endocrinology Division, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil. mrdsilva@unifesp.br.

المصدر: Cell & bioscience [Cell Biosci] 2024 Jan 04; Vol. 14 (1), pp. 3. Date of Electronic Publication: 2024 Jan 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101561195 Publication Model: Electronic Cited Medium: Print ISSN: 2045-3701 (Print) Linking ISSN: 20453701 NLM ISO Abbreviation: Cell Biosci Subsets: PubMed not MEDLINE

المؤلفون: Lasolle H; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Brussels, Belgium., Schiavo A; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Brussels, Belgium., Tourneur A; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Brussels, Belgium., Gillotay P; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Brussels, Belgium., de Faria da Fonseca B; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Brussels, Belgium., Ceolin L; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Brussels, Belgium.; Thyroid Section, Endocrine Division, Hospital de Clínicas de Porto Alegre (HCPA), Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil., Monestier O; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Brussels, Belgium., Aganahi B; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Brussels, Belgium., Chomette L; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Brussels, Belgium., Kizys MML; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Brussels, Belgium., Haenebalcke L; VIB, Flanders Institute for Biotechnology, Ghent University, Ghent, Belgium., Pieters T; VIB, Flanders Institute for Biotechnology, Ghent University, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Goossens S; VIB, Flanders Institute for Biotechnology, Ghent University, Ghent, Belgium.; Department of Diagnostic Sciences, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Haigh J; CancerCare Manitoba Research Institute, Department of Pharmacology and Therapeutics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada., Detours V; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Brussels, Belgium., Maia ALS; Thyroid Section, Endocrine Division, Hospital de Clínicas de Porto Alegre (HCPA), Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil., Costagliola S; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Brussels, Belgium., Romitti M; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Brussels, Belgium. mirian.romitti@ulb.be.

المصدر: Oncogene [Oncogene] 2024 Jan; Vol. 43 (3), pp. 155-170. Date of Electronic Publication: 2023 Nov 20.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8711562 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5594 (Electronic) Linking ISSN: 09509232 NLM ISO Abbreviation: Oncogene Subsets: MEDLINE

مواضيع طبية MeSH: Proto-Oncogene Proteins B-raf* , Thyroid Neoplasms*/drug therapy , Thyroid Neoplasms*/genetics , Thyroid Neoplasms*/pathology, Animals ; Mice ; Carcinogenesis ; Mutation ; Organoids/pathology ; Phosphatidylinositol 3-Kinases/genetics ; Thyroid Cancer, Papillary/pathology

المؤلفون: Domingues GAB; Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Kizys MML; Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Janovsky CCPS; Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil., de Barros Maciel RM; Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Dias-da-Silva MR; Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Martins JRM; Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Camacho CP; Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil.; Laboratório de Inovação Molecular e Biotecnologia, Divisão de Pós-Graduação Médica, Universidade Nove de Julho, São Paulo, SP, Brasil., Cunha LL; Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil, lucas.leite@unifesp.br.

المصدر: Archives of endocrinology and metabolism [Arch Endocrinol Metab] 2022 Mar 08; Vol. 66 (1), pp. 112-117.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Segmento Farma Editores Country of Publication: Brazil NLM ID: 101652058 Publication Model: Print Cited Medium: Internet ISSN: 2359-4292 (Electronic) Linking ISSN: 23593997 NLM ISO Abbreviation: Arch Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Adenomatous Polyposis Coli*/diagnosis , Adenomatous Polyposis Coli*/genetics , Adenomatous Polyposis Coli*/pathology , Thyroid Neoplasms*/pathology, Female ; Genetic Background ; Humans ; Thyroid Cancer, Papillary/genetics

المؤلفون: Giannocco G; Departamento de Medicina, Laboratório de Endocrinologia e Medicina Translacional, Universidade Federal de São Paulo, UNIFESP/EPM, Rua Pedro de Toledo, 669 - 11 andar, São Paulo, SP 04039-032, Brazil; Departamento de Ciências Biológicas, Universidade Federal de São Paulo, UNIFESP, Diadema, SP 09920-000, Brazil., Kizys MML; Departamento de Medicina, Laboratório de Endocrinologia e Medicina Translacional, Universidade Federal de São Paulo, UNIFESP/EPM, Rua Pedro de Toledo, 669 - 11 andar, São Paulo, SP 04039-032, Brazil., Maciel RM; Departamento de Medicina, Laboratório de Endocrinologia e Medicina Translacional, Universidade Federal de São Paulo, UNIFESP/EPM, Rua Pedro de Toledo, 669 - 11 andar, São Paulo, SP 04039-032, Brazil., de Souza JS; Departamento de Medicina, Laboratório de Endocrinologia e Medicina Translacional, Universidade Federal de São Paulo, UNIFESP/EPM, Rua Pedro de Toledo, 669 - 11 andar, São Paulo, SP 04039-032, Brazil; Department of Pediatrics, School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address: jsenadesouza@ucsd.edu.

المصدر: Seminars in cell & developmental biology [Semin Cell Dev Biol] 2021 Jun; Vol. 114, pp. 47-56. Date of Electronic Publication: 2020 Sep 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Academic Press Country of Publication: England NLM ID: 9607332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-3634 (Electronic) Linking ISSN: 10849521 NLM ISO Abbreviation: Semin Cell Dev Biol Subsets: MEDLINE

مواضيع طبية MeSH: Central Nervous System/*physiology , Gene Expression/*genetics , Thyroid Hormones/*therapeutic use, Animals ; Humans ; Mice ; Thyroid Hormones/pharmacology

المؤلفون: Radonsky V; Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Kizys MML; Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Dotto RP; Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Esper PLG; Division of Nephrology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Heilberg IP; Division of Nephrology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Dias-da-Silva MR; Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil. mrdsilva@unifesp.br.; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Rua Pedro de Toledo, 669, 11° andar, São Paulo, SP, 04039-032, Brazil. mrdsilva@unifesp.br., Lazaretti-Castro M; Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.

المصدر: Calcified tissue international [Calcif Tissue Int] 2020 Oct; Vol. 107 (4), pp. 403-408. Date of Electronic Publication: 2020 Jul 24.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Springer Verlag Country of Publication: United States NLM ID: 7905481 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0827 (Electronic) Linking ISSN: 0171967X NLM ISO Abbreviation: Calcif Tissue Int Subsets: MEDLINE

مواضيع طبية MeSH: Amelogenesis Imperfecta*/genetics, Claudins/*genetics , Hypercalciuria/*genetics , Nephrocalcinosis/*genetics , Renal Tubular Transport, Inborn Errors/*genetics, Body Height ; Child ; Homozygote ; Humans ; Male ; Sequence Deletion

SCR Disease Name: Hypomagnesemia primary

المؤلفون: Ramos LS; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.; Thyroid Diseases Unit, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Kizys MML; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Kunii IS; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Spinola-Castro AM; Division of Pediatric Endocrinology, Department of Pediatrics, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Nesi-França S; Division of Pediatric Endocrinology, Department of Pediatrics, Universidade Federal do Paraná (UFPR), Curitiba, PR, Brazil., Guerra RA; Endocrinology Unit, Hospital do Servidor Público Municipal (HSPM), São Paulo, Brazil., Camacho CP; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.; Thyroid Diseases Unit, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Martins JRM; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.; Thyroid Diseases Unit, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Maciel RMB; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.; Thyroid Diseases Unit, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Dias-da-Silva MR; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.; Thyroid Diseases Unit, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Chiamolera MI; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil. mchiamolera@unifesp.br.; Thyroid Diseases Unit, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil. mchiamolera@unifesp.br.

المصدر: Endocrine [Endocrine] 2018 Dec; Vol. 62 (3), pp. 628-638. Date of Electronic Publication: 2018 Jul 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9434444 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-0100 (Electronic) Linking ISSN: 1355008X NLM ISO Abbreviation: Endocrine Subsets: MEDLINE

مواضيع طبية MeSH: Thyroid Hormone Receptors beta/*genetics , Thyroid Hormone Resistance Syndrome/*diagnosis, Adolescent ; Adult ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Infant ; Male ; Middle Aged ; Mutation ; Thyroid Function Tests ; Thyroid Hormone Receptors beta/metabolism ; Thyroid Hormone Resistance Syndrome/genetics ; Thyroid Hormone Resistance Syndrome/metabolism ; Thyrotropin/blood ; Thyroxine/blood ; Triiodothyronine/blood ; Young Adult

المؤلفون: Correa-Silva SR; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Fausto JDS; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Kizys MML; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Filipelli R; Molecular Biology and Lysosomal Disease Diagnosis Laboratory, Department of Biophysics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Marco Antonio DS; Research and Development, Fleury Group, São Paulo, Brazil., Oku AY; Research and Development, Fleury Group, São Paulo, Brazil., Furuzawa GK; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Orchard EVH; Unimed Belo Horizonte, Belo Horizonte, Brazil., Costa-Barbosa FA; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.; Research and Development, Fleury Group, São Paulo, Brazil., Mitne-Neto M; Research and Development, Fleury Group, São Paulo, Brazil.; Human Genome and Stem Cell Research Center (HUG-CELL), Biosciences Institute, University of São Paulo (USP), São Paulo, Brazil., Dias-da-Silva MR; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.

المصدر: Journal of neuroendocrinology [J Neuroendocrinol] 2018 Dec; Vol. 30 (12), pp. e12658. Date of Electronic Publication: 2018 Dec 19.

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

بيانات الدورية: Publisher: Wiley & Sons Country of Publication: United States NLM ID: 8913461 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2826 (Electronic) Linking ISSN: 09538194 NLM ISO Abbreviation: J Neuroendocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Pedigree*, Genetic Predisposition to Disease/*genetics , Hypogonadism/*genetics , Receptors, LHRH/*genetics, Brazil ; Cells, Cultured ; Female ; Humans ; Inositol Phosphates/metabolism ; Male ; Mutation ; Receptors, LHRH/physiology ; Exome Sequencing

المؤلفون: Kizys MML; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Universidade Federal de São Paulo, São Paulo 04039-032, Brazil., Louzada RA; UMR 8200 CNRS, Villejuif, 94800, France.; Institut Gustave Roussy, Villejuif, 94800, France.; Université Paris-Saclay, Orsay, 91405, France.; Laboratory of Endocrine Physiology Doris Rosenthal, Instituto de Biofisica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro 21941-902, Brazil., Mitne-Neto M; Fleury Group, São Paulo 04344-070, Brazil.; Human Genome and Stem Cell Research Center, Biosciences Institute, Universidade de São Paulo, São Paulo 05508-900, Brazil., Jara JR; Department of Pediatrics, Universidade Federal do Paraná, Curitiba 80060-240, Brazil., Furuzawa GK; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Universidade Federal de São Paulo, São Paulo 04039-032, Brazil., de Carvalho DP; Laboratory of Endocrine Physiology Doris Rosenthal, Instituto de Biofisica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro 21941-902, Brazil., Dias-da-Silva MR; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Universidade Federal de São Paulo, São Paulo 04039-032, Brazil., Nesi-França S; Department of Pediatrics, Universidade Federal do Paraná, Curitiba 80060-240, Brazil., Dupuy C; UMR 8200 CNRS, Villejuif, 94800, France.; Institut Gustave Roussy, Villejuif, 94800, France.; Université Paris-Saclay, Orsay, 91405, France., Maciel RMB; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Universidade Federal de São Paulo, São Paulo 04039-032, Brazil.; Fleury Group, São Paulo 04344-070, Brazil.

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2017 Nov 01; Vol. 102 (11), pp. 4060-4071.

نوع المنشور: Journal Article; 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: Mutation*, Congenital Hypothyroidism/*genetics , Dual Oxidases/*genetics , Thyroid Dysgenesis/*genetics, Cohort Studies ; Congenital Hypothyroidism/complications ; DNA Mutational Analysis ; Dual Oxidases/chemistry ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; HEK293 Cells ; Humans ; Infant, Newborn ; Male ; Protein Domains/genetics ; Thyroid Dysgenesis/complications ; Thyroid Gland/embryology

المؤلفون: Melo MCC; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Universidade Federal de São Paulo, São Paulo, 04039-032, Brazil., de Souza JS; Biological Sciences, Universidade Federal de São Paulo, Diadema, 09972-270, Brazil., Kizys MML; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Universidade Federal de São Paulo, São Paulo, 04039-032, Brazil., Vidi AC; Molecular Biology Program, Universidade Federal de São Paulo, São Paulo, 04044-020, Brazil., Dorta HS; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Universidade Federal de São Paulo, São Paulo, 04039-032, Brazil., Kunii IS; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Universidade Federal de São Paulo, São Paulo, 04039-032, Brazil., Giannocco G; Molecular Biology Program, Universidade Federal de São Paulo, São Paulo, 04044-020, Brazil., Carvalheira G; Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, 04039-032, Brazil., Dias-da-Silva MR; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Universidade Federal de São Paulo, São Paulo, 04039-032, Brazil.; Biological Sciences, Universidade Federal de São Paulo, Diadema, 09972-270, Brazil.

المصدر: Journal of the Endocrine Society [J Endocr Soc] 2017 Feb 28; Vol. 1 (7), pp. 809-815. Date of Electronic Publication: 2017 Feb 28 (Print Publication: 2017).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Endocrine Society Country of Publication: United States NLM ID: 101697997 Publication Model: eCollection Cited Medium: Print ISSN: 2472-1972 (Print) Linking ISSN: 24721972 NLM ISO Abbreviation: J Endocr Soc Subsets: PubMed not MEDLINE