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Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
Karlsson L, de Paula Michelatto D, Lusa ALG, D'Almeida Mgnani Silva C, Östberg LJ, Persson B, Guerra-Júnior G, Valente de Lemos-Marini SH, Baldazzi L, Menabó S, Balsamo A, Greggio NA, Palandi de Mello M, Barbaro M, Lajic S. Karlsson L, et al. Among authors: menabo s. Clin Biochem. 2019 Nov;73:50-56. doi: 10.1016/j.clinbiochem.2019.07.009. Epub 2019 Jul 22. Clin Biochem. 2019. PMID: 31344365
A genetic epidemiology study of congenital adrenal hyperplasia in Italy.
Gialluisi A, Menabò S, Baldazzi L, Casula L, Meloni A, Farci MC, Mariotti S, Balestrino L, Ortolano R, Murru S, Carcassi C, Loche S, Balsamo A, Romeo G. Gialluisi A, et al. Among authors: menabo s. Clin Genet. 2018 Feb;93(2):223-227. doi: 10.1111/cge.13078. Epub 2017 Oct 17. Clin Genet. 2018. PMID: 28644547
Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.
Balsamo A, Baronio F, Ortolano R, Menabo S, Baldazzi L, Di Natale V, Vissani S, Cassio A. Balsamo A, et al. Among authors: menabo s. Front Pediatr. 2020 Dec 22;8:593315. doi: 10.3389/fped.2020.593315. eCollection 2020. Front Pediatr. 2020. PMID: 33415088 Free PMC article. Review.
17 results