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: Lainetti KR; Institute of Medical Assistance to Public Servants of the State (IAMSPE), Mirandinha Street, 755, Sao Paulo 03641000, Brazil. Electronic address: klainetti@hotmail.com., Pimenta J; Instituto de Assistência Médica ao Servidor Público Estadual, São Paulo, SP, Brazil. Electronic address: pimenta@cardiol.br., Vendramini MF; Instituto de Assistência Médica ao Servidor Público Estadual, São Paulo, SP, Brazil.

المصدر: Diabetes research and clinical practice [Diabetes Res Clin Pract] 2019 Dec; Vol. 158, pp. 107878. Date of Electronic Publication: 2019 Oct 24.

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: Arrhythmias, Cardiac/*etiology , Death, Sudden/*etiology , Diabetes Mellitus, Type 1/*complications , Electrocardiography/*methods , Hypoglycemia/*complications, Adolescent ; Adult ; Arrhythmias, Cardiac/pathology ; Child ; Child, Preschool ; Diabetes Mellitus, Type 1/pathology ; Female ; Humans ; Hypoglycemia/pathology ; Male ; Middle Aged ; Prospective Studies ; Young Adult

المؤلفون: 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., Quedas EPS; 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., Collett-Solberg P; Department of Endocrinology, University of Rio de Janeiro State (UERJ), Rio de Janeiro, RJ, Brazil., Boguszewski MCS; Departamento de Pediatria, Universidade Federal do Paraná (UFPR), Curitiba, PR, Brazil., Vendramini MF; Serviço de Endocrinologia, Hospital do Servidor Público Estadual de São Paulo (HSPE-SP), Sao Paulo, SP, Brazil., Crisostomo LG; Serviço de Endocrinologia, Hospital Israelita Albert Eisntein, Sao Paulo, SP, Brazil.; Faculdade de Medicina, Centro Universitário São Camilo, Sao Paulo, SP, Brazil., Floh FO; Serviço de Endocrinologia, Hospital Israelita Albert Eisntein, Sao Paulo, SP, Brazil., Zarabia ZI; Serviço de Endocrinologia, Hospital Infantil Dr. Jeser Amarante Faria, Joinville, SC, Brazil., Kohara SK; Serviço de Endocrinologia, Universidade da Região de Joinville (UNIVILLE), Joinville, SC, Brazil., Guastapaglia L; Serviço de Endocrinologia, Hospital do Servidor Público Municipal de São Paulo (HSPM-SP), Sao Paulo, SP, Brazil., Passone CGB; Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, SP, Brazil., Sewaybricker LE; Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, 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., 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: Clinical genetics [Clin Genet] 2017 Oct; Vol. 92 (4), pp. 388-396. Date of Electronic Publication: 2017 Apr 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus, Type 2/*genetics , Hepatocyte Nuclear Factor 1-alpha/*genetics , Protein Serine-Threonine Kinases/*genetics, Adolescent ; Adult ; Brazil/epidemiology ; Child ; Child, Preschool ; Cohort Studies ; Diabetes Mellitus, Type 2/epidemiology ; Diabetes Mellitus, Type 2/pathology ; Female ; Germinal Center Kinases ; Humans ; Male ; Mutation ; Phenotype ; Young Adult

SCR Disease Name: Mason-Type Diabetes

المؤلفون: Crispim F; Disciplina de Endocrinologia , Escola Paulista de Medicina, Universidade Federal de São Paulo, Rua Pedro de Toledo, 781, São Paulo, SP, 04039-032, Brazil. rmoises@unifesp.br., Vendramini MF, Moisés RS

مؤلفون مشاركون: Japanese-Brazilian Diabetes Study Group

المصدر: Diabetology & metabolic syndrome [Diabetol Metab Syndr] 2013 Apr 09; Vol. 5 (1), pp. 20. Date of Electronic Publication: 2013 Apr 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101488958 Publication Model: Electronic Cited Medium: Print ISSN: 1758-5996 (Print) Linking ISSN: 17585996 NLM ISO Abbreviation: Diabetol Metab Syndr Subsets: PubMed not MEDLINE

المؤلفون: Vieira SM; Laboratório de Endocrinologia Celular e Molecular (LIM-25), Faculdade de Medicina da Universidade de São Paulo, 01246-903 São Paulo-SP, Brazil., Monteiro MB, Marques T, Luna AM, Fortes MA, Nery M, Queiroz M, Dib SA, Vendramini MF, Azevedo MJ, Canani LH, Parisi MC, Pavin EJ, Giannella-Neto D, Corrêa-Giannella ML

المصدر: BMC medical genetics [BMC Med Genet] 2011 Sep 30; Vol. 12, pp. 129. Date of Electronic Publication: 2011 Sep 30.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus, Type 1/*genetics , Diabetic Nephropathies/*genetics , Glutamate-Cysteine Ligase/*genetics , Glutathione Peroxidase/*genetics , NADPH Oxidases/*genetics, Adult ; Case-Control Studies ; Catalytic Domain/genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic

المؤلفون: Vendramini MF; Division of Endocrinology, Universidade Federal de São Paulo, SP, Brazil., Gurgel LC, Moisés RS

المصدر: Arquivos brasileiros de endocrinologia e metabologia [Arq Bras Endocrinol Metabol] 2010 Nov; Vol. 54 (8), pp. 682-4.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Sociedade Brasileira de Endocrinologia e Metabologia Country of Publication: Brazil NLM ID: 0403437 Publication Model: Print Cited Medium: Internet ISSN: 1677-9487 (Electronic) Linking ISSN: 00042730 NLM ISO Abbreviation: Arq Bras Endocrinol Metabol Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus/*drug therapy , Infant, Newborn, Diseases/*drug therapy , Mutation/*drug effects , Potassium Channels, Inwardly Rectifying/*drug effects , Sulfonylurea Compounds/*therapeutic use, Adult ; Diabetes Mellitus/genetics ; Diabetes Mellitus/metabolism ; Drug Substitution ; Heterozygote ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases/genetics ; Male ; Mutation/genetics ; Potassium Channels, Inwardly Rectifying/genetics ; Treatment Outcome

المؤلفون: Vendramini MF; Division of Endocrinology, Department of Medicine, Federal University of São Paulo, São Paulo, SP, Brazil., Pereira AC, Ferreira SR, Kasamatsu TS, Moisés RS

مؤلفون مشاركون: Japanese Brazilian Diabetes Study Group

المصدر: Journal of diabetes and its complications [J Diabetes Complications] 2010 Mar-Apr; Vol. 24 (2), pp. 115-20. Date of Electronic Publication: 2009 Mar 06.

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

بيانات الدورية: Publisher: Elsevier Science Pub. Co Country of Publication: United States NLM ID: 9204583 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-460X (Electronic) Linking ISSN: 10568727 NLM ISO Abbreviation: J Diabetes Complications Subsets: MEDLINE

مواضيع طبية MeSH: Adiponectin/*genetics , Diabetes Mellitus, Type 2/*epidemiology, Adiponectin/blood ; Asian People/genetics ; Blood Glucose/genetics ; Body Mass Index ; Brazil/epidemiology ; Diabetes Mellitus, Type 2/ethnology ; Diabetes Mellitus, Type 2/genetics ; Female ; Genome-Wide Association Study ; Haplotypes ; Humans ; Japan/ethnology ; Male ; Middle Aged ; Mutation ; Polymorphism, Genetic

المؤلفون: Vendramini MF; Department of Medicine, Division of Endocrinology, Federal University of São Paulo, São Paulo, Brazil., Kasamatsu TS, Crispim F, Ferreira SR, Matioli SR, Moisés RS

مؤلفون مشاركون: Japanese-Brazilian Diabetes Study Group

المصدر: Clinical endocrinology [Clin Endocrinol (Oxf)] 2009 Jul; Vol. 71 (1), pp. 50-5. Date of Electronic Publication: 2008 Sep 28.

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

بيانات الدورية: Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0346653 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2265 (Electronic) Linking ISSN: 03000664 NLM ISO Abbreviation: Clin Endocrinol (Oxf) Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation*, Adiponectin/*genetics , Adiponectin/*metabolism , Diabetes Mellitus, Type 2/*ethnology , Diabetes Mellitus, Type 2/*genetics, Adiponectin/chemistry ; Adult ; Amino Acid Sequence ; Asian People/genetics ; Base Sequence ; Brazil/epidemiology ; Case-Control Studies ; Diabetes Mellitus, Type 2/metabolism ; Female ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Pedigree

عنوان ترانسليتريتد: A glimepirida e os testes de bioequivalência.

المؤلفون: Vendramini MF

المصدر: Arquivos brasileiros de endocrinologia e metabologia [Arq Bras Endocrinol Metabol] 2007 Aug; Vol. 51 (6), pp. 898-9.

نوع المنشور: Comment; Editorial

بيانات الدورية: Publisher: Sociedade Brasileira de Endocrinologia e Metabologia Country of Publication: Brazil NLM ID: 0403437 Publication Model: Print Cited Medium: Print ISSN: 0004-2730 (Print) Linking ISSN: 00042730 NLM ISO Abbreviation: Arq Bras Endocrinol Metabol Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus, Type 2/*drug therapy , Hypoglycemic Agents/*pharmacokinetics , Sulfonylurea Compounds/*pharmacokinetics, Blood Glucose/drug effects ; Humans ; Therapeutic Equivalency

عنوان ترانسليتريتد: Síndrome de Wolfram: da definição às bases moleculares.

المؤلفون: Ribeiro MR; Escola Paulista de Medicina, Universidade Federal de Sao Paulo, Sao Paulo, SP., Crispim F, Vendramini MF, Moisés RS

المصدر: Arquivos brasileiros de endocrinologia e metabologia [Arq Bras Endocrinol Metabol] 2006 Oct; Vol. 50 (5), pp. 839-44.

نوع المنشور: English Abstract; Journal Article; Review

بيانات الدورية: Publisher: Sociedade Brasileira de Endocrinologia e Metabologia Country of Publication: Brazil NLM ID: 0403437 Publication Model: Print Cited Medium: Print ISSN: 0004-2730 (Print) Linking ISSN: 00042730 NLM ISO Abbreviation: Arq Bras Endocrinol Metabol Subsets: MEDLINE

مواضيع طبية MeSH: Wolfram Syndrome*/genetics , Wolfram Syndrome*/pathology , Wolfram Syndrome*/physiopathology, Membrane Proteins/*physiology, Humans ; Membrane Proteins/genetics ; Mutation ; Time Factors