Augusto G Guimaraes

KCNJ5 Somatic Mutation Is a Predictor of Hypertension Remission After Adrenalectomy for Unilateral Primary Aldosteronism

Leticia A P Vilela, Marcela Rassi-Cruz, Augusto G Guimaraes et al. · The Journal of Clinical Endocrinology & Metabolism · 2019 · 65 citations · Full text

Medicine, Endocrinology, Surgery +14

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis

Carla Andreia Teixeira, Janice A. Espinola, Liang Huo et al. · Human Mutation · 2003 · 50 citations

Life Sciences, Genetics, Molecular Genetics +14

Two novel CLN5 mutations in a Portuguese patient with vLINCL: Insights into molecular mechanisms of CLN5 deficiency

Carlos Bessa, Carla Andreia Teixeira, M. Mangas et al. · Molecular Genetics and Metabolism · 2006 · 38 citations

Life Sciences, Genetics, Molecular Genetics +5

Congenital amegakaryocytic thrombocytopenia—Report of a new <i>c‐mpl</i> gene missense mutation

José Luís Passos‐Coelho, M. Sebastião, Paula Gameiro et al. · American Journal of Hematology · 2006 · 18 citations · Full text

Life Sciences, Genetics, Hematology +17

Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas

Janaina Petenuci, Augusto G Guimaraes, Gustavo F C Fagundes et al. · Clinical Endocrinology · 2021 · 17 citations

Medicine, Genetics, Pediatrics +16