Mariana Costanzo

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

Three New SF-1 &lt;i&gt;(NR5A1) &lt;/i&gt;Gene Mutations in Two Unrelated Families with Multiple Affected Members: Within-Family Variability in 46,XY Subjects and Low Ovarian Reserve in Fertile 46,XX Subjects

Diana Mónica Warman, Mariana Costanzo, Roxana Marino et al. · Hormone Research in Paediatrics · 2010 · 60 citations

Life Sciences, Genetics, Molecular Genetics +17

Five New Cases of 46,XX Aromatase Deficiency: Clinical Follow-Up From Birth to Puberty, a Novel Mutation, and a Founder Effect

Roxana Marino, Natalia Pérez Garrido, Mariana Costanzo et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 38 citations · Full text

Medicine, Endocrinology, Molecular Genetics +17

Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in the &lt;b&gt;&lt;i&gt;NR5A1/SF-1 &lt;/i&gt;&lt;/b&gt;Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred

Marta Ciaccio, Mariana Costanzo, Gabriela Guercio et al. · Hormone Research in Paediatrics · 2012 · 35 citations

Medicine, Genetics, Molecular Genetics +17

Role of IGFs and Insulin in the Human Testis During Postnatal Activation: Differentiation of Steroidogenic Cells

Esperanza Berensztein, María Sonia Baquedano, Carolina Pepe et al. · Pediatric Research · 2008 · 35 citations

Life Sciences, Developmental Biology, Endocrinology +16