Federica Buonocore

Federica Buonocore

University College London - London / United Kingdom
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 1343021
person_outline Federica Buonocore's MOST POPULAR ARTICLES
1-) DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human diseaseJP Suntharalingham, F Buonocore, AJ Duncan, JC AchermannBest practice & research Clinical endocrinology & metabolism 29 (4), 607-619, 20151722015
2-) Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndromeR Prasad, I Hadjidemetriou, A Maharaj, E Meimaridou, F Buonocore, ...The Journal of clinical investigation 127 (3), 942-953, 20171372017
3-) Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humansF Buonocore, P Kühnen, JP Suntharalingham, I Del Valle, M Digweed, ...The Journal of clinical investigation 127 (5), 1700-1713, 20171762017
4-) Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohortT Guran, F Buonocore, N Saka, MN Ozbek, Z Aycan, A Bereket, F Bas, ...The Journal of Clinical Endocrinology & Metabolism 101 (1), 284-292, 20161782016
5-) A recurrent p. Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex developmentA Bashamboo, PA Donohoue, E Vilain, S Rojo, P Calvel, SN Seneviratne, ...Human molecular genetics 25 (16), 3446-3453, 20161292016