Federica Buonocore

ORCID: 0000-0002-8274-7241 · 2 papers in corpus

article 2025

A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency

·doi:10.1210/clinem/dgaf124

CONTEXT: Establishing the genetic basis of early-onset primary ovarian insufficiency (EO-POI, <25 years) is important, but defining variant pathogenicity is challenging. OBJECTIVE: We aimed to elucidate the genetic architecture of EO-POI in…

2015

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.

Best practice & research. Clinical endocrinology & metabolism ·doi:10.1016/j.beem.2015.07.004

DAX-1 (NR0B1) and SF-1 (NR5A1) are two nuclear receptor transcription factors that play a key role in human adrenal and reproductive development. Loss of DAX-1 function is classically associated with X-linked adrenal hypoplasia congenita. T…