Baldazzi L - Search Results

1

SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.

Nicoletti A, Baldazzi L, Balsamo A, Barp L, Pirazzoli P, Gennari M, Radetti G, Cacciari E, Cicognani A. Nicoletti A, et al. Among authors: baldazzi l. Clin Endocrinol (Oxf). 2005 Oct;63(4):375-80. doi: 10.1111/j.1365-2265.2005.02348.x. Clin Endocrinol (Oxf). 2005. PMID: 16181229

2

CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency.

Balsamo A, Cicognani A, Baldazzi L, Barbaro M, Baronio F, Gennari M, Bal M, Cassio A, Kontaxaki K, Cacciari E. Balsamo A, et al. Among authors: baldazzi l. J Clin Endocrinol Metab. 2003 Dec;88(12):5680-8. doi: 10.1210/jc.2003-030123. J Clin Endocrinol Metab. 2003. PMID: 14671153

3

Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism.

Antelli A, Baldazzi L, Balsamo A, Pirazzoli P, Nicoletti A, Gennari M, Cicognani A. Antelli A, et al. Among authors: baldazzi l. Eur J Endocrinol. 2006 Aug;155(2):201-5. doi: 10.1530/eje.1.02198. Eur J Endocrinol. 2006. PMID: 16868131

4

CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region.

Balsamo A, Cacciari E, Baldazzi L, Tartaglia L, Cassio A, Mantovani V, Piazzi S, Cicognani A, Pirazzoli P, Mainetti B, Zappulla F. Balsamo A, et al. Among authors: baldazzi l. Clin Endocrinol (Oxf). 2000 Jul;53(1):117-25. doi: 10.1046/j.1365-2265.2000.01048.x. Clin Endocrinol (Oxf). 2000. PMID: 10931088

5

Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.

Barbaro M, Lajic S, Baldazzi L, Balsamo A, Pirazzoli P, Cicognani A, Wedell A, Cacciari E. Barbaro M, et al. Among authors: baldazzi l. J Clin Endocrinol Metab. 2004 May;89(5):2402-7. doi: 10.1210/jc.2003-031630. J Clin Endocrinol Metab. 2004. PMID: 15126570

6

Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism.

Nicoletti A, Bal M, De Marco G, Baldazzi L, Agretti P, Menabò S, Ballarini E, Cicognani A, Tonacchera M, Cassio A. Nicoletti A, et al. Among authors: baldazzi l. J Clin Endocrinol Metab. 2009 Nov;94(11):4187-94. doi: 10.1210/jc.2009-0618. Epub 2009 Oct 9. J Clin Endocrinol Metab. 2009. PMID: 19820021

7

Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage.

Menabò S, Balsamo A, Nicoletti A, Gennari M, Pirazzoli P, Cicognani A, Baldazzi L. Menabò S, et al. Among authors: baldazzi l. Horm Res. 2008;70(2):124-8. doi: 10.1159/000137664. Epub 2008 Jun 12. Horm Res. 2008. PMID: 18547961

8

Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment.

Cassio A, Nicoletti A, Rizzello A, Zazzetta E, Bal M, Baldazzi L. Cassio A, et al. Among authors: baldazzi l. J Clin Res Pediatr Endocrinol. 2013;5 Suppl 1(Suppl 1):29-39. doi: 10.4274/jcrpe.864. Epub 2012 Nov 15. J Clin Res Pediatr Endocrinol. 2013. PMID: 23154162 Free PMC article. Review.

9

Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis.

Baldazzi L, Nicoletti A, Gennari M, Barbaro M, Pirazzoli P, Cicognani A, Cacciari E. Baldazzi L, et al. Clin Genet. 2003 Sep;64(3):258-60. doi: 10.1034/j.1399-0004.2003.00125.x. Clin Genet. 2003. PMID: 12919143 No abstract available.

10

Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.

Barbaro M, Baldazzi L, Balsamo A, Lajic S, Robins T, Barp L, Pirazzoli P, Cacciari E, Cicognani A, Wedell A. Barbaro M, et al. Among authors: baldazzi l. J Mol Med (Berl). 2006 Jun;84(6):521-8. doi: 10.1007/s00109-006-0043-7. Epub 2006 Mar 16. J Mol Med (Berl). 2006. PMID: 16541276

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