Magliozzi M - Search Results

1

Prenatal CFAP53-related laterality defect: case report and review of the literature.

Mastromoro G, Guadagnolo D, Novelli A, Torres B, Piane M, Magliozzi M, Bernardini L, Ventriglia F, Pizzuti A, Petrucci S. Mastromoro G, et al. Among authors: magliozzi m. J Matern Fetal Neonatal Med. 2023 Dec;36(1):2201653. doi: 10.1080/14767058.2023.2201653. J Matern Fetal Neonatal Med. 2023. PMID: 37041101 Free article. Review.

2

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

Magliozzi M, Piane M, Torrente I, Sinibaldi L, Rizzo G, Savio C, Lulli P, De Luca A, Dallapiccola B, Chessa L. Magliozzi M, et al. Dis Markers. 2006;22(4):257-64. doi: 10.1155/2006/740493. Dis Markers. 2006. PMID: 17124347 Free PMC article.

3

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

D'Asdia MC, Torrente I, Consoli F, Ferese R, Magliozzi M, Bernardini L, Guida V, Digilio MC, Marino B, Dallapiccola B, De Luca A. D'Asdia MC, et al. Among authors: magliozzi m. Eur J Med Genet. 2013 Feb;56(2):80-7. doi: 10.1016/j.ejmg.2012.11.005. Epub 2012 Dec 7. Eur J Med Genet. 2013. PMID: 23220543

4

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.

Baban A, Magliozzi M, Loeys B, Adorisio R, Alesi V, Secinaro A, Corica B, Vricella L, Dietz HC, Drago F, Novelli A, Amodeo A. Baban A, et al. Among authors: magliozzi m. BMC Med Genet. 2018 Sep 15;19(1):170. doi: 10.1186/s12881-018-0661-2. BMC Med Genet. 2018. PMID: 30219046 Free PMC article.

5

Small 4p16.3 deletions: Three additional patients and review of the literature.

Bernardini L, Radio FC, Acquaviva F, Gorgone C, Postorivo D, Torres B, Alesi V, Magliozzi M, Lonardo F, Monica MD, Nardone AM, Cesario C, Mattina T, Scarano G, Dallapiccola B, Digilio MC, Novelli A. Bernardini L, et al. Among authors: magliozzi m. Am J Med Genet A. 2018 Nov;176(11):2501-2508. doi: 10.1002/ajmg.a.40512. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244530 Review.

6

Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.

Digilio MC, Magliozzi M, Di Pede A, Valfrè L, Dentici ML, Auriti C, Marino B, Novelli A, Dallapiccola B. Digilio MC, et al. Among authors: magliozzi m. Am J Med Genet A. 2019 Aug;179(8):1570-1574. doi: 10.1002/ajmg.a.61195. Epub 2019 May 20. Am J Med Genet A. 2019. PMID: 31111652

7

What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs.

Amodeo S, Vitrano G, Guardino M, Paci G, Corselli F, Antona V, Barrano G, Magliozzi M, Novelli A, Venezia R, Corsello G. Amodeo S, et al. Among authors: magliozzi m. Ital J Pediatr. 2020 Jul 18;46(1):98. doi: 10.1186/s13052-020-00865-w. Ital J Pediatr. 2020. PMID: 32682435 Free PMC article.

8

Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.

Baban A, Cicenia M, Magliozzi M, Gnazzo M, Cantarutti N, Silvetti MS, Adorisio R, Dallapiccola B, Bertini E, Novelli A, Drago F. Baban A, et al. Among authors: magliozzi m. Front Pediatr. 2020 Jul 24;8:374. doi: 10.3389/fped.2020.00374. eCollection 2020. Front Pediatr. 2020. PMID: 32793522 Free PMC article.

9

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

Tedesco MG, Lonardo F, Ceccarini C, Cesarano C, Digilio MC, Magliozzi M, Rogaia D, Mencarelli A, Leoni C, Piscopo C, Imperatore V, Falco MT, Fontana P, Nardone AM, Novelli A, Troiani S, Seri M, Prontera P. Tedesco MG, et al. Among authors: magliozzi m. Am J Med Genet A. 2021 Apr;185(4):1204-1210. doi: 10.1002/ajmg.a.62068. Epub 2021 Jan 14. Am J Med Genet A. 2021. PMID: 33442900

10

8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision.

Cicenia M, Alesi V, Orlando V, Magliozzi M, Di Tommaso S, Iodice FG, Pompei E, Toscano A, Digilio MC, Drago F, Novelli A, Baban A. Cicenia M, et al. Among authors: magliozzi m. Am J Med Genet A. 2022 Mar;188(3):883-895. doi: 10.1002/ajmg.a.62598. Epub 2021 Dec 13. Am J Med Genet A. 2022. PMID: 34897976

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