Targeted sequencing identifies novel variants in common and rare MODY genes

Autor: Lucas S. deSantana, Lilian A. Caetano, Aline D. Costa‐Riquetto, Pedro C. Franco, Renata P. Dotto, André F. Reis, Letícia S. Weinert, Sandra P. Silveiro, Marcio F. Vendramini, Flaviene A. doPrado, Giovanna C. P. Abrahão, Ana Gregória F. P. deAlmeida, Maria da G. Rodrigues Tavares, Wagner Rodrigo B. Gonçalves, Augusto C. Santomauro Junior, Bruno Halpern, Alexander A. L. Jorge, Marcia Nery, Milena G. Teles

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)

Abstract 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 been frequently associated with this phenotype. In Brazil, few cohorts have bee

Externí odkaz: https://doaj.org/article/f6853023510c4840b9ed6cfc0e72d576

Targeted sequencing identifies novel variants in common and rare MODY genes

Autor: Letícia Schwerz Weinert, Marcia Nery, Sandra Pinho Silveiro, Lucas Santos de Santana, Augusto C Santomauro Junior, Milena Gurgel Teles, Ana Gregória Ferreira Pereira de Almeida, Wagner Rodrigo B Gonçalves, Bruno Halpern, Marcio F Vendramini, Renata P. Dotto, Lílian Araújo Caetano, Alexander A. L. Jorge, Pedro C Franco, André F. Reis, Flaviene A do Prado, Maria da Gloria Tavares, Aline Dantas Costa-Riquetto, Giovanna C P Abrahão

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)

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 been frequently associated with this phenotype. In Brazil, few cohorts have been screene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2eb0ae0bfe1ec14918c373e8134c923
http://europepmc.org/articles/PMC6900361

Can hypoglycemic episodes in type 1 diabetics trigger cardiac arrhythmias?

Autor: Joao Pimenta, Marcio F. Vendramini, Jose Luiz B. Cassiolato, Kelly Regina Lainetti

Publikováno v: Endocrine Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bdc742cb9ff7ecc213b4e1eb741afc42
https://doi.org/10.1530/endoabs.49.ep380

Novel mutation in the adiponectin (ADIPOQ) gene is associated with hypoadiponectinaemia in Japanese-Brazilians

Autor: Sandra Roberta Gouvea Ferreira, Regina S. Moisés, Felipe Crispim, Marcio F. Vendramini, Sérgio Russo Matioli, Teresa S. Kasamatsu

Publikováno v: Clinical Endocrinology. 71:50-55

Summary Objective Adiponectin is an important mediator of insulin sensitivity, encoded by the ADIPOQ gene. Here we describe two Japanese–Brazilian families with hypoadiponectinaemia due to a novel mutation in ADIPOQ. Design and patients In this stu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25a4f6683261f8bb148c59d3b3165ef7
https://doi.org/10.1111/j.1365-2265.2008.03439.x

Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene

Autor: Regina S. Moisés, Marcio F. Vendramini, Lucimary C. Gurgel

Publikováno v: Repositório Institucional da UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
Arquivos Brasileiros de Endocrinologia & Metabologia v.54 n.8 2010
Arquivos Brasileiros de Endocrinologia & Metabologia
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM

OBJETIVO: Reportar o efeito a longo prazo (30 meses) da substituição de insulina por sulfonilureia em um paciente com a mutação p.G53D (c.158G>A) no gene KCNJ11. SUJEITO E MÉTODO: Paciente do sexo masculino, atualmente com 29 anos de idade, foi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa24986ddfe07cefc85ea5e292327c08
http://repositorio.unifesp.br/handle/11600/6009