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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: Martins-Costa MC; Centro de Doenças da Tiroide e Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brasil.; Centro de Endocrinologia e Metabologia, Hospital Geral de Fortaleza (HGF), Fortaleza, CE, Brasil.; Departamento de Medicina, Universidade de Fortaleza (UNIFOR), Fortaleza, CE, Brasil., Lindsey SC; Centro de Doenças da Tiroide e Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brasil., Cunha LL; Centro de Doenças da Tiroide e Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brasil., Carreiro-Filho FP; Departamento de Cirurgia de Cabeça e Pescoço, Hospital Geral de Fortaleza, Fortaleza, CE, Brasil., Cortez AP; Santa Casa de Misericórdia de Fortaleza, Fortaleza, CE, Brasil.; Hospital Geral Dr. César Cals, Fortaleza, CE, Brasil., Holanda ME; Santa Casa de Misericórdia de Fortaleza, Fortaleza, CE, Brasil., Farias JWM; Departamento de Cirurgia de Cabeça e Pescoço, Hospital Geral de Fortaleza, Fortaleza, CE, Brasil.; Santa Casa de Misericórdia de Fortaleza, Fortaleza, CE, Brasil., Lima SB; Santa Casa de Misericórdia de Fortaleza, Fortaleza, CE, Brasil., Ferreira LAA; Hospital Universitário Walter Cantídio, Universidade Federal do Ceará (UFC), Fortaleza, CE, Brasil.; Hospital Infantil Albert Sabin, Fortaleza, CE, Brasil., Maia Filho PC; Centro Universitário Christus (Unichristus), Fortaleza, CE, Brasil., Camacho CP; Centro de Doenças da Tiroide e Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brasil., Furuzawa GK; Centro de Doenças da Tiroide e Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brasil., Kunii IS; Centro de Doenças da Tiroide e Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brasil., Dias-da-Silva MR; Centro de Doenças da Tiroide e Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brasil., Martins JRM; Centro de Doenças da Tiroide e Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brasil.; Divisão de Biologia Molecular, Departamento de Bioquímica, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brasil., Maciel RMB; Centro de Doenças da Tiroide e Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brasil.; Fleury Medicina e Saúde, São Paulo, SP, Brasil.

المصدر: Archives of endocrinology and metabolism [Arch Endocrinol Metab] 2018; Vol. 62 (6), pp. 623-635.

نوع المنشور: Journal Article

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: Carcinoma, Neuroendocrine/*diagnosis , Carcinoma, Neuroendocrine/*genetics , Genetic Carrier Screening/*methods , Germ-Line Mutation/*genetics , Proto-Oncogene Proteins c-ret/*genetics , Thyroid Neoplasms/*diagnosis , Thyroid Neoplasms/*genetics, Adolescent ; Adult ; Age Factors ; Aged ; Aged, 80 and over ; Brazil ; Carcinoma, Neuroendocrine/pathology ; Early Detection of Cancer ; Female ; Gene Rearrangement/genetics ; Genetic Association Studies ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Reproducibility of Results ; Risk Assessment ; Risk Factors ; Thyroid Neoplasms/pathology ; Time Factors ; Transfection/methods ; Young Adult

SCR Disease Name: Thyroid cancer, medullary

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: Martins-Costa MC; Department of MedicineThyroid Diseases Center and Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.; Center for Endocrinology and MetabologyHospital Geral de Fortaleza, Fortaleza, CE, Brazil.; Department of MedicineUniversidade de Fortaleza, Fortaleza, CE, Brazil., Cunha LL; Department of MedicineThyroid Diseases Center and Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil., Lindsey SC; Department of MedicineThyroid Diseases Center and Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil., Camacho CP; Department of MedicineThyroid Diseases Center and Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil., Dotto RP; Department of MedicineThyroid Diseases Center and Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil., Furuzawa GK; Department of MedicineThyroid Diseases Center and Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil., Sousa MS; Department of MedicineThyroid Diseases Center and Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil., Kasamatsu TS; Department of MedicineThyroid Diseases Center and Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil., Kunii IS; Department of MedicineThyroid Diseases Center and Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil., Martins MM; Department of MedicineThyroid Diseases Center and Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil., Machado AL; Department of MedicineThyroid Diseases Center and Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.; Fleury Medicine and HealthSão Paulo, SP, Brazil., Martins JR; Department of MedicineThyroid Diseases Center and Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil., Dias-da-Silva MR; Department of MedicineThyroid Diseases Center and Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil rui.maciel@unifesp.br mrdsilva@unifesp.br., Maciel RM; Department of MedicineThyroid Diseases Center and Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil rui.maciel@unifesp.br mrdsilva@unifesp.br.; Fleury Medicine and HealthSão Paulo, SP, Brazil.

المصدر: Endocrine-related cancer [Endocr Relat Cancer] 2016 Dec; Vol. 23 (12), pp. 909-920.

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

بيانات الدورية: Publisher: BioScientifica Country of Publication: England NLM ID: 9436481 Publication Model: Print Cited Medium: Internet ISSN: 1479-6821 (Electronic) Linking ISSN: 13510088 NLM ISO Abbreviation: Endocr Relat Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Substitution* , Mutation, Missense*, Carcinoma, Medullary/*congenital , Multiple Endocrine Neoplasia Type 2a/*genetics , Proto-Oncogene Proteins c-ret/*genetics , Thyroid Neoplasms/*genetics, Adolescent ; Adult ; Aged, 80 and over ; Brazil ; Carcinoma, Medullary/genetics ; Child ; Family ; Female ; Founder Effect ; Germ-Line Mutation ; Humans ; Male ; Methionine/genetics ; Middle Aged ; Pedigree ; Valine/genetics ; Young Adult

SCR Disease Name: Familial medullary thyroid carcinoma

المؤلفون: Paninka RM; Laboratory of Molecular and Translational 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.; Laboratory of Structural and Functional Neurobiology, Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil., Mazzotti DR; Department of Psychobiology, Universidade Federal de São Paulo, São Paulo, Brazil., Kizys MM; Laboratory of Molecular and Translational 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., Vidi AC; Laboratory of Molecular and Translational 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., Rodrigues H; Department of Psychobiology, Universidade Federal de São Paulo, São Paulo, Brazil., Silva SP; Laboratory of Integrative Biology and Metabolism, Department of Biophysics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Kunii IS; Laboratory of Molecular and Translational 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., Furuzawa GK; Laboratory of Molecular and Translational 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., Arcisio-Miranda M; Laboratory of Structural and Functional Neurobiology, Department of Biophysics, Universidade Federal de São Paulo, 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, Rua Pedro de Toledo, 669, 11° andar, São Paulo, SP, 04039-032, Brazil. mrdsilva@unifesp.br.

المصدر: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2016 Aug; Vol. 291 (4), pp. 1535-44. Date of Electronic Publication: 2016 Mar 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101093320 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1617-4623 (Electronic) Linking ISSN: 16174623 NLM ISO Abbreviation: Mol Genet Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Channelopathies/*genetics , Potassium Channels, Inwardly Rectifying/*genetics , Sequence Analysis, DNA/*methods, Chromosome Mapping/methods ; Exome ; Genetic Predisposition to Disease ; Genome, Human ; HEK293 Cells ; Humans ; Polymorphism, Single Nucleotide ; Protein Isoforms/genetics ; Sequence Alignment

المؤلفون: Santarosa VA; Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Orlandi DM; Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Fiorin LB; Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Kasamatsu TS; Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Furuzawa GK; Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Kunii IS; Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Padovani RP; Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Marone MM; Irmandade Santa Casa de Misericórdia de São Paulo, São Paulo, SP, Brasil., Castiglioni ML; Departamento de Diagnóstico por Imagem, EPM, Unifesp, São Paulo, SP, Brasil., Vieira JG; Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Maciel RM; Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Dias-da-Silva MR; Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Martins JR; Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil.

المصدر: Archives of endocrinology and metabolism [Arch Endocrinol Metab] 2015 Dec; Vol. 59 (6), pp. 501-6. Date of Electronic Publication: 2015 Sep 25.

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

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

مواضيع طبية MeSH: Graves Disease/*diet therapy , Graves Disease/*drug therapy , Iodine/*administration & dosage , Iodine Radioisotopes/*therapeutic use , Trace Elements/*pharmacology, Adolescent ; Adult ; Aged ; Combined Modality Therapy ; Female ; Follow-Up Studies ; Food, Formulated ; Humans ; Iodine/urine ; Male ; Middle Aged ; Nutritional Status ; Treatment Outcome ; Young Adult

المؤلفون: Giuffrida FM; Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo, São Paulo, Brazil., Calliari LE, Manna TD, Ferreira JG, Saddi-Rosa P, Kunii IS, Furuzawa GK, Dias-da-Silva MR, Reis AF

المصدر: Diabetes research and clinical practice [Diabetes Res Clin Pract] 2013 May; Vol. 100 (2), pp. e42-5. Date of Electronic Publication: 2013 Feb 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8508335 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8227 (Electronic) Linking ISSN: 01688227 NLM ISO Abbreviation: Diabetes Res Clin Pract Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus, Type 2/*enzymology , Diabetes Mellitus, Type 2/*genetics , Glucokinase/*genetics, Adolescent ; Adult ; Aged ; Brazil ; Child ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Sequence Deletion/genetics ; Young Adult

SCR Disease Name: Maturity-Onset Diabetes of the Young, Type 2