المؤلفون: Franco LF; Disciplina de Endocrinologia, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Szarf G; Departamento de Diagnóstico por Imagem, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Dotto RP; Disciplina de Endocrinologia, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Dib SA; Disciplina de Endocrinologia, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Moises RS; Disciplina de Endocrinologia, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Giuffrida FMA; Disciplina de Endocrinologia, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil; Departamento de Ciências da Vida, Universidade do Estado da Bahia (UNEB), Salvador, Brazil. Electronic address: fernando.giuffrida@me.com., Reis AF; Disciplina de Endocrinologia, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.

المصدر: Diabetes research and clinical practice [Diabetes Res Clin Pract] 2021 Jun; Vol. 176, pp. 108867. Date of Electronic Publication: 2021 May 21.

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: Heart Disease Risk Factors*, Calcium/*blood , Coronary Vessels/*metabolism , Diabetes Mellitus, Type 2/*diagnosis, Adult ; Aged ; Calcium/analysis ; Cardiovascular Diseases/blood ; Cardiovascular Diseases/diagnosis ; Cardiovascular Diseases/etiology ; Case-Control Studies ; Coronary Vessels/chemistry ; Diabetes Mellitus, Type 2/blood ; Diabetes Mellitus, Type 2/complications ; Diabetes Mellitus, Type 2/genetics ; Diabetic Angiopathies/blood ; Diabetic Angiopathies/diagnosis ; Female ; Glucokinase/genetics ; Humans ; Hyperglycemia/genetics ; Male ; Middle Aged ; Mutation ; Prognosis ; Risk Assessment ; Risk Factors

SCR Disease Name: Mason-Type Diabetes

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: de Santana LS; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Caetano LA; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Costa-Riquetto AD; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Franco PC; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Dotto RP; Departamento de Medicina, Disciplina de Endocrinologia, Universidade Federal de São Paulo (UNIFESP), Sao Paulo, SP, Brazil., Reis AF; Departamento de Medicina, Disciplina de Endocrinologia, Universidade Federal de São Paulo (UNIFESP), Sao Paulo, SP, Brazil., Weinert LS; Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil., Silveiro SP; Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil., Vendramini MF; Serviço de Endocrinologia, Hospital do Servidor Público Estadual de São Paulo (HSPE-SP), Sao Paulo, SP, Brazil., do Prado FA; Hospital Regional de Taguatinga da Secretaria de Saúde do Distrito Federal, Taguatinga, DF, Brazil., Abrahão GCP; Pontifícia Universidade Católica de São Paulo (PUCSP), Sao Paulo, SP, Brazil., de Almeida AGFP; Instituto Federal de Educação, Ciência e Tecnologia do Maranhão (IFMA), Sao Luis, MA, Brazil., Tavares MDGR; Serviço de Endocrinologia do Hospital Universitário, Universidade Federal do Maranhão (UFMA), Sao Luis, MA, Brazil., Gonçalves WRB; Hospital do Servidor Público Municipal de São Paulo (HSPM-SP), Sao Paulo, SP, Brazil., Santomauro Junior AC; Serviço de Endocrinologia Prof. Dr. Fadlo Fraige Filho, Hospital Beneficência Portuguesa de São Paulo (BP-SP), Sao Paulo, SP, Brazil., Halpern B; Departamento de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, SP, Brazil., Jorge AAL; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Nery M; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Teles MG; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Dec; Vol. 7 (12), pp. e962. Date of Electronic Publication: 2019 Oct 08.

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

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus, Type 2/*genetics , Genetic Testing/*methods , High-Throughput Nucleotide Sequencing/*methods, Adolescent ; Adult ; Basic Helix-Loop-Helix Transcription Factors/genetics ; Brazil ; Cohort Studies ; Female ; Genetic Predisposition to Disease ; Homeodomain Proteins/genetics ; Humans ; Male ; Sequence Analysis, DNA ; Sulfonylurea Receptors/genetics ; Trans-Activators/genetics ; Young Adult

SCR Disease Name: Mason-Type Diabetes

المؤلفون: Dotto RP; Disciplina de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil., Santana LS; Grupo de Diabetes Monogênico, Unidade de Endocrinologia Genética/LIM25, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brasil., Lindsey SC; Disciplina de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil., Caetano LA; Grupo de Diabetes Monogênico, Unidade de Endocrinologia Genética/LIM25, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brasil., Franco LF; Disciplina de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil., Moisés RCMS; Disciplina de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil., Sa JR; Disciplina de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil., Nishiura JL; Disciplina de Nefrologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil., Teles MG; Grupo de Diabetes Monogênico, Unidade de Endocrinologia Genética/LIM25, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brasil., Heilberg IP; Disciplina de Nefrologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil., Dias-da-Silva MR; Disciplina de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil., Giuffrida FMA; Disciplina de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil.; Departamento de Ciências da Vida, Universidade do Estado da Bahia (UNEB), Salvador, BA, Brasil., Reis AF; Disciplina de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil.

المصدر: Archives of endocrinology and metabolism [Arch Endocrinol Metab] 2019 May-Jun; Vol. 63 (3), pp. 250-257. Date of Electronic Publication: 2019 May 02.

نوع المنشور: Journal Article

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: Mutation*, Diabetic Nephropathies/*genetics , Hepatocyte Nuclear Factor 1-beta/*genetics , Hyperglycemia/*genetics , Kidney Diseases, Cystic/*genetics, Adult ; Brazil ; Cohort Studies ; Diabetic Nephropathies/complications ; Gene Deletion ; Humans ; Hyperglycemia/complications ; Kidney Diseases, Cystic/complications ; Middle Aged ; Phenotype ; Polymorphism, Genetic/genetics

المؤلفون: Franco LF; Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP Brasil., Peixoto-Barbosa R; Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP Brasil.; Departamento de Ciências da Vida, Universidade do Estado da Bahia (UNEB), Salvador, BA, Brasil., Dotto RP; Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP Brasil., Vieira JGH; Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP Brasil., Dias-da-Silva MR; Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP Brasil., Reis LCF; Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP Brasil., Giuffrida FMA; Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP Brasil.; Departamento de Ciências da Vida, Universidade do Estado da Bahia (UNEB), Salvador, BA, Brasil., Reis AF; Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP Brasil.

المصدر: Archives of endocrinology and metabolism [Arch Endocrinol Metab] 2017 Dec; Vol. 61 (6), pp. 637-642.

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: Genetic Predisposition to Disease*, Diabetes Mellitus/*genetics , Hepatocyte Nuclear Factor 1-alpha/*genetics , Hepatocyte Nuclear Factor 4/*genetics , Protein Serine-Threonine Kinases/*genetics, Adult ; Aged ; Child, Preschool ; Diabetes Mellitus/classification ; Female ; Genetic Testing ; Genotype ; Germinal Center Kinases ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree

المؤلفون: Giuffrida FMA; Universidade do Estado da Bahia (UNEB), Salvador, Brazil; Disciplina de Endocrinologia, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil. Electronic address: fernando.giuffrida@me.com., Moises RS; Disciplina de Endocrinologia, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Weinert LS; Endocrinology Unit - Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil., Calliari LE; Faculdade de Medicina da Santa Casa de Misericórdia de São Paulo, São Paulo, Brazil., Manna TD; Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Dotto RP; Disciplina de Endocrinologia, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Franco LF; Disciplina de Endocrinologia, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Caetano LA; Monogenic Diabetes Group, Genetic Endocrinology Unit and Diabetes Unit, University of Sao Paulo (USP) Medical School, Sao Paulo, Brazil., Teles MG; Monogenic Diabetes Group, Genetic Endocrinology Unit and Diabetes Unit, University of Sao Paulo (USP) Medical School, Sao Paulo, Brazil., Lima RA; Pediatric Endocrinology Unit, University Hospital Prof. Edgard Santos, Faculty of Medicine, Federal University of Bahia, Salvador, Brazil., Alves C; Pediatric Endocrinology Unit, University Hospital Prof. Edgard Santos, Faculty of Medicine, Federal University of Bahia, Salvador, Brazil., Dib SA; Disciplina de Endocrinologia, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Silveiro SP; Endocrinology Unit - Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil., Dias-da-Silva MR; Disciplina de Endocrinologia, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Reis AF; Disciplina de Endocrinologia, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil. Electronic address: afreis2005@gmail.com.

مؤلفون مشاركون: Brazilian Monogenic Diabetes Study Group (BRASMOD)

المصدر: Diabetes research and clinical practice [Diabetes Res Clin Pract] 2017 Jan; Vol. 123, pp. 134-142. Date of Electronic Publication: 2016 Oct 22.

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/*genetics , Hepatocyte Nuclear Factor 1-alpha/*genetics, Adolescent ; Adult ; Brazil ; Diabetes Mellitus, Type 2/diagnosis ; Female ; Humans ; Male ; Registries ; Young Adult

SCR Disease Name: Mason-Type Diabetes

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: Dotto RP; Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Giuffrida FM; Universidade do Estado da Bahia (UNEB), Salvador, Brazil., Franco L; Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Mathez AL; Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Weinert LS; Endocrinology Unit - Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil., Silveiro SP; Endocrinology Unit - Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil., Sa JR; Diabetes Center, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Reis AF; Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil. Electronic address: afreis2005@gmail.com., Dias-da-Silva MR; Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.

المصدر: Diabetes research and clinical practice [Diabetes Res Clin Pract] 2016 Jun; Vol. 116, pp. 100-4. Date of Electronic Publication: 2016 Apr 26.

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: Gene Deletion*, Diabetes Mellitus, Type 2/*genetics , Hepatocyte Nuclear Factor 1-beta/*genetics, Adult ; Brazil ; Case-Control Studies ; Central Nervous System Diseases ; Dental Enamel/abnormalities ; Diabetes Mellitus, Type 2/diagnosis ; Female ; Glucokinase/genetics ; Hepatocyte Nuclear Factor 1-alpha/genetics ; Heterozygote ; Humans ; Incidental Findings ; Kidney Diseases, Cystic ; Male ; Phenotype

SCR Disease Name: Renal cysts and diabetes syndrome

المؤلفون: Weinert LS; Endocrinology Unit-Hospital de Clínicas de Porto Alegre, Postgraduate Fellowship Program in Endocrinology-Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil., Silveiro SP; Endocrinology Unit-Hospital de Clínicas de Porto Alegre, Postgraduate Fellowship Program in Endocrinology-Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil., Giuffrida FM; Centro de Endocrinologia do Estado da Bahia (CEDEBA), Salvador, Brazil; Universidade do Estado da Bahia (UNEB), Salvador, Brazil., Cunha VT; Endocrinology Unit-Hospital de Clínicas de Porto Alegre, Postgraduate Fellowship Program in Endocrinology-Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil., Bulcão C; Centro de Endocrinologia do Estado da Bahia (CEDEBA), Salvador, Brazil., Calliari LE; Pediatric Endocrinology Unit, Santa Casa de Misericórdia, São Paulo, Brazil., Della Manna T; Instituto da Criança, Hospital das Clínicas, Universidade de São Paulo (USP), Brazil., Kunii IS; Laboratory of Molecular and Translacional Endocrinology, Universidade Federal de São Paulo (UNIFESP), Brazil., Dotto RP; Laboratory of Molecular and Translacional Endocrinology, Universidade Federal de São Paulo (UNIFESP), Brazil., Dias-da-Silva MR; Laboratory of Molecular and Translacional Endocrinology, Universidade Federal de São Paulo (UNIFESP), Brazil., Reis AF; Laboratory of Molecular and Translacional Endocrinology, Universidade Federal de São Paulo (UNIFESP), Brazil; Diabetes Center, Universidade Federal de São Paulo (UNIFESP), Brazil. Electronic address: andrefreis@terra.com.br.

المصدر: Diabetes research and clinical practice [Diabetes Res Clin Pract] 2014 Nov; Vol. 106 (2), pp. e44-8. Date of Electronic Publication: 2014 Aug 12.

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

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: Mutation, Missense*, DNA/*genetics , Diabetes Mellitus, Type 2/*genetics , Glucokinase/*genetics , Hepatocyte Nuclear Factor 1-alpha/*genetics, Adolescent ; Adult ; Brazil/epidemiology ; Child ; Child, Preschool ; DNA Mutational Analysis ; Diabetes Mellitus, Type 2/blood ; Diabetes Mellitus, Type 2/epidemiology ; Female ; Glucokinase/metabolism ; Hepatocyte Nuclear Factor 1-alpha/metabolism ; Humans ; Hyperglycemia/genetics ; Incidence ; Infant ; Male ; Middle Aged ; Pedigree ; Phenotype ; Young Adult