Menabò S - Search Results

1

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

Menabò S, Polat S, Baldazzi L, Kulle AE, Holterhus PM, Grötzinger J, Fanelli F, Balsamo A, Riepe FG. Menabò S, et al. Eur J Hum Genet. 2014 May;22(5):610-6. doi: 10.1038/ejhg.2013.197. Epub 2013 Sep 11. Eur J Hum Genet. 2014. PMID: 24022297 Free PMC article.

2

Impact of molecular genetics on congenital adrenal hyperplasia management.

Balsamo A, Baldazzi L, Menabò S, Cicognani A. Balsamo A, et al. Among authors: menabo s. Sex Dev. 2010 Sep;4(4-5):233-48. doi: 10.1159/000315959. Epub 2010 Jul 15. Sex Dev. 2010. PMID: 20639616 Review.

3

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

4

Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

Menabò S, Polat S, Baldazzi L, Kulle AE, Holterhus PM, Grötzinger J, Fanelli F, Balsamo A, Riepe FG. Menabò S, et al. Eur J Hum Genet. 2020 May;28(5):692. doi: 10.1038/s41431-020-0587-y. Eur J Hum Genet. 2020. PMID: 32071409 Free PMC article.

5

A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia.

Menabò S, Balsamo A, Baldazzi L, Barbaro M, Nicoletti A, Conti V, Pirazzoli P, Wedell A, Cicognani A. Menabò S, et al. J Endocrinol Invest. 2012 Mar;35(3):298-305. doi: 10.3275/7680. Epub 2011 Apr 26. J Endocrinol Invest. 2012. PMID: 21521936

6

Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient.

Menabò S, Boccassini S, Gambineri A, Balsamo A, Pasquali R, Prontera O, Mazzanti L, Baldazzi L. Menabò S, et al. J Endocrinol Invest. 2016 Mar;39(3):291-5. doi: 10.1007/s40618-015-0362-z. Epub 2015 Aug 18. J Endocrinol Invest. 2016. PMID: 26280318

7

Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone.

Oriolo C, Fanelli F, Castelli S, Mezzullo M, Altieri P, Corzani F, Pelusi C, Repaci A, Di Dalmazi G, Vicennati V, Baldazzi L, Menabò S, Dormi A, Nardi E, Brillanti G, Pasquali R, Pagotto U, Gambineri A. Oriolo C, et al. Among authors: menabo s. J Endocrinol Invest. 2020 Oct;43(10):1499-1509. doi: 10.1007/s40618-020-01235-3. Epub 2020 Mar 31. J Endocrinol Invest. 2020. PMID: 32236851

8

Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1.

Balsamo A, Cicognani A, Gennari M, Sippell WG, Menabò S, Baronio F, Riepe FG. Balsamo A, et al. Among authors: menabo s. Eur J Endocrinol. 2007 Feb;156(2):249-56. doi: 10.1530/eje.1.02330. Eur J Endocrinol. 2007. PMID: 17287415

9

Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia.

Scaramuzzo RT, Menabò S, Baldazzi L, Moscuzza F, Saba A, Balsamo A, Boldrini A, Ghirri P. Scaramuzzo RT, et al. Among authors: menabo s. Sex Dev. 2017;11(2):82-85. doi: 10.1159/000456023. Epub 2017 Feb 11. Sex Dev. 2017. PMID: 28190008

10

Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations.

Rocca MS, Ortolano R, Menabò S, Baronio F, Cassio A, Russo G, Balsamo A, Ferlin A, Baldazzi L. Rocca MS, et al. Among authors: menabo s. Fertil Steril. 2018 Jun;109(6):1105-1113. doi: 10.1016/j.fertnstert.2018.02.123. Fertil Steril. 2018. PMID: 29935645 Free article.

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