Browsing by Author "Abreu, Gabriella de Medeiros"
Now showing items 1-16 of 16
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Association of LRRK2 and GBA mutations in a brazilian family with Parkinson's disease
Spitz, Mariana et al. | Date Issued: 2015 -
Autosomal dominant Parkinson's disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil
Abreu, Gabriella de Medeiros et al. | Date Issued: 2016 -
Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease
Silva, Camilla P. da et al. | Date Issued: 2017 -
Genetic variants in DBC1, SIRT1, UCP2 and ADRB2 as potential biomarkers for severe obesity and metabolic complications
Fonseca, Ana Carolina Proença da et al. | Date Issued: 2024 -
Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population
Martins, Raisa da Silva et al. | Date Issued: 2019 -
Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity
Salum, Kaio Cezar Rodrigues et al. | Date Issued: 2020 -
Identification of the First PAX4-MODY Family Reported in Brazil
Abreu, Gabriella de Medeiros et al. | Date Issued: 2020 -
Identification of the MC4R start lost mutation in a morbidly obese Brazilian patient
Fonseca, Ana Carolina Proença da et al. | Date Issued: 2019 -
Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil
Abreu, Gabriella de Medeiros et al. | Date Issued: 2022 -
MODY probability calculator for GCK and HNF1A screening in a multiethnic background population
Tarantino, Roberta Magalhães et al. | Date Issued: 2019 -
Parkinson disease: a-synuclein mutational screening and new clinical insight into the p.E46K mutation
Pimentel, Márcia M. G. et al. | Date Issued: 2015 -
A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity
Fonseca, Ana Carolina Proença da et al. | Date Issued: 2021 -
Rastreamento molecular de uma amostra de pacientes brasileiros com fenótipo clínico indicativo de Diabetes Monogênico não sindrômico
Abreu, Gabriella de Medeiros | Date Issued: 2021O Diabetes mellitus (DM) é um importante problema de saúde pública, afetando cerca de 463 milhões de pessoas em todo mundo. As formas mais comuns de DM são as multifatoriais, que respondem por mais de 90% de todos os casos. ... -
Study of LEP, MRAP2 and POMC genes as potential causes of severe obesity in Brazilian patients
Fonseca, Ana Carolina Proença da et al. | Date Issued: 2020 -
The Association of the Fat Mass and Obesity-Associated Gene (FTO) rs9939609 Polymorphism and the Severe Obesity in a Brazilian Population
Fonseca, Ana Carolina Proença da et al. | Date Issued: 2019 -
The first case of NEUROD1-MODY reported in Latin America
Abreu, Gabriella de Medeiros et al. | Date Issued: 2019