Now showing items 1-3 of 3

    • 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), ...

    • Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY 

      Weinert, Leticia S.; Silveiro, Sandra P.; Giuffrida, Fernando M. A.; Cunha, Vivian T.; Bulcao, Caroline; Calliari, Luis Eduardo; Della Manna, Thais; Kunii, Ilda S. [UNIFESP]; Dotto, Renata P. [UNIFESP]; Dias-da-Silva, Magnus R. [UNIFESP]; Reis, Andre F. [UNIFESP] (Elsevier B.V., 2014-11-01)
      Thirty-two Brazilian families with MODY phenotype were screened for GCK and HNF1A mutations. GCK mutations were found in 8 families, all patients with mild asymptomatic hyperglycaemia; 3 of them are novel: p.Asp365Asn, ...