Ana Elisa C. Billerbeck

Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene

Karla Melo, Berenice B. Mendonça, Ana Elisa C. Billerbeck et al. · The Journal of Clinical Endocrinology & Metabolism · 2003 · 191 citations

Medicine, Endocrinology, Genetics +17

A Microdeletion in the Ligand Binding Domain of Human Steroidogenic Factor 1 Causes XY Sex Reversal without Adrenal Insufficiency

Rafaela Vieira Corrêa, Sorahia Domenice, Nathan C. Bingham et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 153 citations

Medicine, Endocrinology, Genetics +17

Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors

Emília M. Pinto, Ana Elisa C. Billerbeck, Maria C. B. F. Villares et al. · Arquivos Brasileiros de Endocrinologia & Metabologia · 2004 · 151 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>SHOX</i> mutations in idiopathic short stature and Leri‐Weill dyschondrosteosis: frequency and phenotypic variability

Alexander A.L. Jorge, S. C. A. L. Souza, Mirian Yumie Nishi et al. · Clinical Endocrinology · 2006 · 110 citations

Life Sciences, Genetics, Molecular Genetics +15

Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency¹

Tânia A.S.S. Bachega, Ana Elisa C. Billerbeck, Guiomar Madureira et al. · The Journal of Clinical Endocrinology & Metabolism · 1998 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16