Thatiana Evilen da Silva

Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development

Nathália Lisboa Gomes, Rafael Loch Batista, Mirian Yumie Nishi et al. · The Journal of Clinical Endocrinology & Metabolism · 2022 · 50 citations · Full text

Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum

Thatiana Evilen da Silva, Nathália Lisboa Gomes, Antônio Marcondes Lerário et al. · The Journal of Clinical Endocrinology & Metabolism · 2019 · 45 citations · Full text

A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor‐1 ( <i>WT1</i> ) pathogenic variant

Nathália Lisboa Gomes, Leila Cristina Pedroso de Paula, Juliana M. Silva et al. · Clinical Genetics · 2018 · 32 citations · Full text

Long‐term outcomes and molecular analysis of a large cohort of patients with 46,<scp>XY</scp> disorder of sex development due to partial gonadal dysgenesis

Nathália Lisboa Gomes, Antônio Marcondes Lerário, Aline Zamboni Machado et al. · Clinical Endocrinology · 2018 · 19 citations

A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys–Drash syndrome

Thatiana Evilen da Silva, Mirian Yumie Nishi, Elaine Maria Frade Costa et al. · Pediatric Nephrology · 2011 · 12 citations · Full text

Glomerulonephritis, Mendelian Disorder, Genetic Disorder +11