Detalhe da pesquisa
1.
New insights into the comorbid conditions of Turner syndrome: results from a long-term monocentric cohort study.
J Endocrinol Invest
; 45(12): 2247-2256, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907176
2.
Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone.
J Endocrinol Invest
; 43(10): 1499-1509, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32236851
3.
A genetic epidemiology study of congenital adrenal hyperplasia in Italy.
Clin Genet
; 93(2): 223-227, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28644547
4.
Improving the diagnosis of 11ß-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient.
J Endocrinol Invest
; 39(3): 291-5, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26280318
5.
A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia.
J Endocrinol Invest
; 35(3): 298-305, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21521936
6.
Impact of molecular genetics on congenital adrenal hyperplasia management.
Sex Dev
; 4(4-5): 233-48, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20639616