Alice Mirante

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions

Ana Friães, Ana Toste Rêgo, José Maria Aragüés et al. · Molecular Genetics and Metabolism · 2006 · 64 citations

Life Sciences, Endocrinology, Genetics +11

The COVID-19 Pandemic Affects Seasonality, With Increasing Cases of New-Onset Type 1 Diabetes in Children, From the Worldwide SWEET Registry

Felix Reschke, Stefanie Lanzinger, Vivien Herczeg et al. · Diabetes Care · 2022 · 30 citations · Full text

Public Health, Child Health, Pediatrics +14

The spectrum of pediatric adrenal insufficiency: insights from 34 years of experience

Mara Ventura, Joana Serra Caetano, Rita Cardoso et al. · Journal of Pediatric Endocrinology and Metabolism · 2019 · 20 citations

Medicine, Endocrinology, Pediatrics +14

Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations

Maria Inês Alvelos, Catarina Gonçalves, Eduarda Coutinho et al. · Journal of Clinical Medicine · 2020 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

<b><i>CYP21A2</i></b> Gene Pathogenic Variants: A Multicenter Study on Genotype–Phenotype Correlation from a Portuguese Pediatric Cohort

Rita Santos Silva, Rita Cardoso, Lurdes Lopes et al. · Hormone Research in Paediatrics · 2019 · 15 citations

Medicine, Endocrinology, Pediatrics +16