Search Results - "Dotto, Renata P."

Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia by Dotto, Renata P, Santana, Lucas Santos de, Lindsey, Susan C, Caetano, Lilian Araújo, Franco, Luciana F, Moisés, Regina Célia M S, Sa, João R, Nishiura, José Luiz, Teles, Milena Gurgel, Heilberg, Ita P, Dias-da-Silva, Magnus R, Giuffrida, Fernando M A, Reis, André F

“…To verify the presence of variants in HNF1B in a sample of the Brazilian population selected according to the presence of renal cysts associated with…”
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More than kin, less than kind: one family and the many faces of diabetes in youth by Franco, Luciana F, Peixoto-Barbosa, Renata, Dotto, Renata P, Vieira, José Gilberto H, Dias-da-Silva, Magnus R, Reis, Luiz Carlos F, Giuffrida, Fernando M A, Reis, Andre F

“…Identification of the correct etiology of diabetes brings important implications for clinical management. In this report, we describe a case of a 4-year old…”
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Cardiovascular risk assessment by coronary artery calcium score in subjects with maturity-onset diabetes of the young caused by glucokinase mutations by Franco, Luciana F., Szarf, Gilberto, Dotto, Renata P., Dib, Sergio A., Moises, Regina S., Giuffrida, Fernando M.A., Reis, André F.

“…Maturity-Onset Diabetes of the Young (MODY) caused by glucokinase (GCK) mutations is characterized by lifelong mild non-progressive hyperglycemia, with low…”
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Maturity-Onset Diabetes of the Young (MODY) in Brazil: establishment of a national registry and appraisal of available genetic and clinical data by M.A. Giuffrida, Fernando, Moises, Regina S, Weinert, Leticia S, Calliari, Luis E, Della Manna, Thais, Dotto, Renata P, Franco, Luciana, Caetano, Lilian A, Teles, Milena G, Andrade Lima, Renata, Alves, Crésio, Dib, Sergio A, Silveiro, Sandra P, Dias-da-Silva, Magnus R, Reis ¶, Andre F

“…Highlights • A national registry of MODY cases in Brazil was established. • 311 individuals were assessed, 72 with GCK mutations and 31 with HNF1A mutations. •…”
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M918V RET mutation causes familial medullary thyroid carcinoma: study of 8 affected kindreds by Martins-Costa, M Cecília, Cunha, Lucas L, Lindsey, Susan C, Camacho, Cleber P, Dotto, Renata P, Furuzawa, Gilberto K, Sousa, M Sharmila A, Kasamatsu, Teresa S, Kunii, Ilda S, Martins, Márcio M, Machado, Alberto L, Martins, João R M, Dias-da-Silva, Magnus R, Maciel, Rui M B

“…Germline mutations in codon 918 of exon 16 of the RET gene (M918T) are classically associated with multiple endocrine neoplasia type 2B (MEN 2B) with highly…”
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Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations by Dotto, Renata P, Giuffrida, Fernando M.A, Franco, Luciana, Mathez, Andreia L.G, Weinert, Leticia S, Silveiro, Sandra P, Sa, Joao R, Reis, Andre F, Dias-da-Silva, Magnus R

“…Highlights • Thirty-two subjects with a clinical phenotype of MODY have been further evaluated for large deletions using MLPA. • Mutations in HNF1B have been…”
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Targeted sequencing identifies novel variants in common and rare MODY genes by Santana, Lucas S., Caetano, Lilian A., Costa‐Riquetto, Aline D., Franco, Pedro C., Dotto, Renata P., Reis, André F., Weinert, Letícia S., Silveiro, Sandra P., Vendramini, Marcio F., Prado, Flaviene A., Abrahão, Giovanna C. P., Almeida, Ana Gregória F. P., Tavares, Maria da G. Rodrigues, Gonçalves, Wagner Rodrigo B., Santomauro Junior, Augusto C., Halpern, Bruno, Jorge, Alexander A. L., Nery, Marcia, Teles, Milena G.

“…Background Maturity‐onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. To date, mutations in 11 genes have…”
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Three unreported glucokinase ( GCK ) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A -MODY by Weinert, Letícia S, Silveiro, Sandra P, Giuffrida, Fernando M.A, Cunha, Vivian T, Bulcão, Caroline, Calliari, Luis Eduardo, Manna, Thais Della, Kunii, Ilda S, Dotto, Renata P, Dias-da-Silva, Magnus R, Reis, André F

“…Highlights • Thirty-two Brazilian families with MODY phenotype have been studied. • Mutations in HNF1A and glucokinase ( GCK ) have been assessed. • Eight…”
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