Rita Bertalan

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

Anu Bashamboo, Caroline Eozénou, Anne Jørgensen et al. · The American Journal of Human Genetics · 2018 · 103 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 ( <i>WT1</i> ) gene

Caroline Eozénou, Nitzan Gonen, María Sol Touzón et al. · Proceedings of the National Academy of Sciences · 2020 · 86 citations · Full text

Life Sciences, Developmental Biology, Genetics +17

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Ken McElreavey, Anne Jørgensen, Caroline Eozénou et al. · Genetics in Medicine · 2019 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Y-chromosome markers in Turner syndrome: Screening of 130 patients

Ágnes Sallai, J. Sólyom, M. Dobos et al. · Journal of Endocrinological Investigation · 2009 · 51 citations

Life Sciences, Endocrinology, Genetics +14

10th European Congress of Endocrinology

Andrea Luczay, Rita Bertalan, Kàroly Rácz · Journal of Endocrinological Investigation · 2007 · 43 citations

Medicine, Endocrinology, Internal Medicine +12