Andréa Trevas Maciel‐Guerra

Mutations in <i>NR5A1</i> Associated with Ovarian Insufficiency

Diana Lourenço, Raja Brauner, Lin Lin et al. · New England Journal of Medicine · 2009 · 389 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

Ignacio del Castillo, Miguel A. Moreno‐Pelayo, Francisco Castillo et al. · The American Journal of Human Genetics · 2003 · 289 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Clinical practice guidelines for the care of girls and women with Turner syndrome

Claus Højbjerg Gravholt, N.H. Andersen, Sophie Christin‐Maître et al. · European Journal of Endocrinology · 2024 · 182 citations · Full text

Medicine, Endocrinology, Gynecology +17

Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes

J. Assump x E x E o, Celso Eduardo Benedetti, Andréa Trevas Maciel‐Guerra et al. · Journal of Molecular Medicine · 2002 · 77 citations

Life Sciences, Genetics, Molecular Genetics +12

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency

Mônica M. França, Mariana F.A. Funari, Antônio Marcondes Lerário et al. · PLoS ONE · 2020 · 61 citations · Full text

Life Sciences, Genetics, Gynecology +17