Mazzanti L - Search Results

1

Novel Mutations and Unreported Clinical Features in KBG Syndrome.

Scarano E, Tassone M, Graziano C, Gibertoni D, Tamburrino F, Perri A, Gnazzo M, Severi G, Lepri F, Mazzanti L. Scarano E, et al. Among authors: mazzanti l. Mol Syndromol. 2019 May;10(3):130-138. doi: 10.1159/000496172. Epub 2019 Jan 15. Mol Syndromol. 2019. PMID: 31191201 Free PMC article.

2

Pelvic ultrasonography in patients with Turner syndrome: age-related findings in different karyotypes.

Mazzanti L, Cacciari E, Bergamaschi R, Tassinari D, Magnani C, Perri A, Scarano E, Pluchinotta V. Mazzanti L, et al. J Pediatr. 1997 Jul;131(1 Pt 1):135-40. doi: 10.1016/s0022-3476(97)70137-9. J Pediatr. 1997. PMID: 9255205

3

Barber-Say Syndrome: report of a new case.

Mazzanti L, Bergamaschi R, Neri I, Perri A, Patrizi A, Cacciari E, Forabosco A. Mazzanti L, et al. Am J Med Genet. 1998 Jun 30;78(2):188-91. Am J Med Genet. 1998. PMID: 9674915

4

Turner's syndrome: cardiologic profile according to the different chromosomal patterns and long-term clinical follow-Up of 136 nonpreselected patients.

Prandstraller D, Mazzanti L, Picchio FM, Magnani C, Bergamaschi R, Perri A, Tsingos E, Cacciari E. Prandstraller D, et al. Among authors: mazzanti l. Pediatr Cardiol. 1999 Mar-Apr;20(2):108-12. doi: 10.1007/s002469900416. Pediatr Cardiol. 1999. PMID: 9986886

5

Reduced spontaneous growth hormone secretion in patients with Turner's syndrome.

Pirazzoli P, Mazzanti L, Bergamaschi R, Perri A, Scarano E, Nanni S, Zucchini S, Gualandi S, Cicognani A, Cacciari E. Pirazzoli P, et al. Among authors: mazzanti l. Acta Paediatr. 1999 Jun;88(6):610-3. doi: 10.1080/08035259950169242. Acta Paediatr. 1999. PMID: 10419243

6

Noonan-like syndrome with loose anagen hair: a new syndrome?

Mazzanti L, Cacciari E, Cicognani A, Bergamaschi R, Scarano E, Forabosco A. Mazzanti L, et al. Am J Med Genet A. 2003 Apr 30;118A(3):279-86. doi: 10.1002/ajmg.a.10923. Am J Med Genet A. 2003. PMID: 12673660

7

Gonadoblastoma in Turner syndrome and Y-chromosome-derived material.

Mazzanti L, Cicognani A, Baldazzi L, Bergamaschi R, Scarano E, Strocchi S, Nicoletti A, Mencarelli F, Pittalis M, Forabosco A, Cacciari E. Mazzanti L, et al. Am J Med Genet A. 2005 Jun 1;135(2):150-4. doi: 10.1002/ajmg.a.30569. Am J Med Genet A. 2005. PMID: 15880570

8

Final height in a patient with Laron syndrome after long-term therapy with rhlGF-I and short-term therapy with LHRH-analogue and oxandrolone during puberty.

Zucchini S, Scarano E, Baldazzi L, Mazzanti L, Pirazzoli P, Cacciari E. Zucchini S, et al. Among authors: mazzanti l. J Endocrinol Invest. 2005 Mar;28(3):274-9. doi: 10.1007/BF03345385. J Endocrinol Invest. 2005. PMID: 15952414

9

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.

Graziano C, D'Elia AV, Mazzanti L, Moscano F, Guidelli Guidi S, Scarano E, Turchetti D, Franzoni E, Romeo G, Damante G, Seri M. Graziano C, et al. Among authors: mazzanti l. Am J Med Genet A. 2007 Aug 1;143A(15):1802-5. doi: 10.1002/ajmg.a.31808. Am J Med Genet A. 2007. PMID: 17595013 No abstract available.

10

Hearing loss in Turner syndrome: results of a multicentric study.

Bergamaschi R, Bergonzoni C, Mazzanti L, Scarano E, Mencarelli F, Messina F, Rosano M, Iughetti L, Cicognani A. Bergamaschi R, et al. Among authors: mazzanti l. J Endocrinol Invest. 2008 Sep;31(9):779-83. doi: 10.1007/BF03349257. J Endocrinol Invest. 2008. PMID: 18997489

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