Zobrazeno 1 - 10 of 19 pro vyhledávání: '"Aline Dantas Costa‐Riquetto"'
1
Akademický článek
Phenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA
Autor: Pedro Campos Franco, Michelle Patrocinio, Aline Dantas Costa-Riquetto, Augusto Cezar Santomauro Junior, Larissa Garcia Gomes, Milena G. Teles
Publikováno v: Archives of Endocrinology and Metabolism, Vol 68 (2024)
SUMMARY Familial partial lipodystrophy (FPLD) is a very rare genetic disease characterized by insulin resistance due to a loss of subcutaneous fat from the extremities together with a progressive storage of fat around the face and neck and inside the
Externí odkaz: https://doaj.org/article/a622d73124444059a69d44cf12932191
Zobrazit plný text záznamu
2
Akademický článek
The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age
Autor: Augusto Cezar Santomauro, Áurea Luiza Fernandes Magalhães, Flávia Tedesco Motta, Lucas Santos de Santana, Pedro Campos Franco, Silvia Maria de Freitas, Jeniffer Johana Duarte Sanchez, Aline Dantas Costa-Riquetto, Milena G. Teles
Publikováno v: Diabetology & Metabolic Syndrome, Vol 15, Iss 1, Pp 1-9 (2023)
Abstract Background A maturity-onset diabetes of the young (MODY) calculator has been described and validated for use in European Caucasians. This study evaluated its performance in Brazilians diagnosed with diabetes mellitus (DM) before 35 years of
Externí odkaz: https://doaj.org/article/4394b475431e4af59aa534ce7b9f71ef
Zobrazit plný text záznamu
3
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil
Autor: Aline Dantas Costa‐Riquetto, Lucas Santos de Santana, Pedro Campos Franco, Augusto Cezar Santomauro Jr, Artur Eduardo Martio, Hugo Roberto Kurtz Lisboa, Suely Keiko Kohara, Milena G. Teles
Publikováno v: Clinical Genetics. 103:434-447
Neonatal diabetes mellitus (NDM) is defined as the occurrence of severe hyperglycemia in infants under 6 months old and may be permanent (PNDM) or transient (TNDM). When diabetes is diagnosed at 6-12 months of age (early onset diabetes [EOD]), the et
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::945b13a2648cbf4aa277f75e415653db
https://doi.org/10.1111/cge.14279
Zobrazit plný text záznamu
4
Akademický článek
Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred
Autor: Renan Magalhães Montenegro, Aline Dantas Costa-Riquetto, Virgínia Oliveira Fernandes, Ana Paula Dias Rangel Montenegro, Lucas Santos de Santana, Alexander Augusto de Lima Jorge, Lia Beatriz de Azevedo Souza Karbage, Lindenberg Barbosa Aguiar, Francisco Herlânio Costa Carvalho, Milena Gurgel Teles, Catarina Brasil d'Alva
Publikováno v: Frontiers in Endocrinology, Vol 9 (2018)
Background: Dunnigan-type familial partial lipodystrophy (FPLD2) is a rare autosomal dominant disease caused by heterozygous mutations in the LMNA gene that results in regional loss of subcutaneous adipose tissue with onset in puberty. However, a gen
Externí odkaz: https://doaj.org/article/127372d3b46c4b9c8268f408815b0046
Zobrazit plný text záznamu
6
Targeted massively parallel sequencing for congenital generalized lipodystrophy
Autor: Joya E. M. Correia-Deur, Lucas Santos de Santana, Lílian Araújo Caetano, Antonio M. Lerario, Milena Gurgel Teles, Chong Ae Kim, Débora Romeo Bertola, Marcia Nery, Aline Dantas Costa-Riquetto, Alexander A. L. Jorge
Publikováno v: Archives of Endocrinology and Metabolism, Vol 64, Iss 5, Pp 559-566 (2020)
Archives of Endocrinology and Metabolism v.64 n.5 2020
Arquivos de Endocrinologia e Metabolismo
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM
Archives of Endocrinology and Metabolism, Issue: ahead, Published: 28 AUG 2020
Archives of Endocrinology and Metabolism, Volume: 64, Issue: 5, Pages: 559-566, Published: 28 AUG 2020
Objective: Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). Subjects and methods: Nine unrelated individuals wi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76a27175df56b59f2c7121ba28bcc555
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972020000500559&tlng=en
Zobrazit plný text záznamu
7
Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (MODY): The journey towards appropriate treatment
Autor: Pedro, Campos Franco, Lucas, Santos de Santana, Aline, Dantas Costa-Riquetto, Augusto Cezar, Santomauro Junior, Alexander A L, Jorge, Milena, Gurgel Teles
Publikováno v: Diabetes Research and Clinical Practice. 187:109875
To describe the clinical and genetic characteristics and long-term follow-up of a cohort with maturity-onset diabetes of the young (MODY), and to evaluate how molecular diagnosis impacted on treatment.A large observational, retrospective, cohort stud
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d37f881b1b68785605f02082531dbe4
https://doi.org/10.1016/j.diabres.2022.109875
Zobrazit plný text záznamu
9
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
Zobrazit plný text záznamu
10
Targeted massively parallel sequencing for rare monogenic diabetes forms and inherited lipodystrophy
Autor: Aline Dantas Costa Riquetto
Publikováno v: Biblioteca Digital de Teses e Dissertações da USP
Universidade de São Paulo (USP)
instacron:USP
Introdução: O diabetes monogênico corresponde de 1% a 2% de todos os casos de diabetes mellitus, sendo causado por variantes em um único gene. Dentre esses, o mais comum é o MODY (Maturity Onset Diabetes of the Young), havendo, porém, diversas
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dd9b2760d4e4a688d1bcbd2f6774161
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje