Now showing items 1-7 of 7

    • Acurácia de critérios clínicos e laboratoriais para rastreamento de GCK-MODY a partir de dados clínicos do Brazilian Monogenic Diabetes Study Group (BRASMOD) e Brazilian Type 1 Diabetes Study Group (BrazDiab1SG) 

      Peixoto-Barbosa, Renata [UNIFESP] (Universidade Federal de São Paulo, 2022)
      Objetivo: Avaliar a acurácia de parâmetros clínicos e laboratoriais de fácil obtenção na prática clínica no rastreio de GCK-MODY, em comparação a indivíduos portadores de diabetes tipo 1, usando duas coortes brasileiras ...

    • Diabetes Mellitus do Tipo MODY 

      Oliveira, Carolina Soares Viana de [UNIFESP]; Furuzawa, Gilberto K. [UNIFESP]; Reis, André Fernandes [UNIFESP] (Sociedade Brasileira de Endocrinologia e Metabologia, 2002-04-01)
      It is estimated that close to 5% of the individuals classified as having type 2 diabetes mellitus (DM) and about 10% of those considered type 1 DM (previously categorized as juvenile type) are actual carriers of a MODY ...

    • Estratificação do risco de doença cardiovascular no diabetes mellitus monogênico tipo MODY 

      Franco, Luciana Ferreira [UNIFESP] (Universidade Federal de São Paulo (UNIFESP), 2021)
      To identify among asymptomatic individuals the sub-group that has higher risk to develop cardiovascular events is paramount to strategies towards the reduction of cardiovascular event rates. Some studies demonstrated that ...

    • Genetic and clinical characteristics of maturity-onset diabetes of the young 

      Giuffrida, Fernando MA [UNIFESP]; Reis, André F. [UNIFESP] (Blackwell Publishing, 2005-07-01)
      Genetic factors play an important role in various forms of diabetes mellitus (DM), but inheritance is complex and interacts with environmental factors. Although in most cases type 2 DM (T2DM) and T1DM are polygenic disorders, ...

    • Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data 

      Giuffrida, Fernando de Mello Almada [UNIFESP]; Moises, Regina Celia Mello Santiago [UNIFESP]; Weinert, Leticia S.; Calliari, Luis E.; Della Manna, Thais; Dotto, Renata Pires [UNIFESP]; Franco, Luciana Ferreira [UNIFESP]; Caetano, Lilian A.; Teles, Milena G.; Lima, Renata Andrade; Alves, Cresio; Dib, Sergio Atala [UNIFESP]; Silveiro, Sandra P.; Dias-da-Silva, Magnus Régios [UNIFESP]; Reis, André Fernandes [UNIFESP] (Elsevier Ireland Ltd, 2017)
      Aims: Maturity-Onset Diabetes of the Young (MODY) comprises a heterogeneous group of monogenic forms of diabetes caused by mutations in at least 14 genes, but mostly by mutations in Glucokinase (GCK) and hepatocyte nuclear ...

    • A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families 

      Giuffrida, Fernando M. A. [UNIFESP]; Calliari, Luis Eduardo; Della Manna, Thais; Ferreira, Joao Guimaraes [UNIFESP]; Saddi-Rosa, Pedro [UNIFESP]; Kunii, Ilda S. [UNIFESP]; Furuzawa, Gilberto K. [UNIFESP]; Dias-da-Silva, Magnus R. [UNIFESP]; Reis, Andre F. [UNIFESP] (Elsevier B.V., 2013-05-01)
      Six Brazilian families with mild familial hyperglycaemia have been screened for glucokinase (GCK) mutations. All had mutations that co-segregated with the phenotype. One of the mutations, the deletion 96_98delAAG (p.Lys32del), ...

    • Specific insulin and proinsulin secretion in glucokinase-deficient individuals 

      Pardini, Victor Cavalcanti; Velho, Gilberto [UNIFESP]; Reis, R.; Purisch, Saulo; Blanché, H.; Vieira, J.g.h. [UNIFESP]; Moises, Regina Celia Mello Santiago [UNIFESP] (Associação Brasileira de Divulgação Científica, 1999-04-01)
      Glucokinase (GCK) is an enzyme that regulates insulin secretion, keeping glucose levels within a narrow range. Mutations in the glucokinase gene cause a rare form of diabetes called maturity-onset diabetes of the young ...