Magliozzi M - Search Results

1

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

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

Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B. Chessa L, et al. Among authors: magliozzi m. Ann Hum Genet. 2009 Sep;73(Pt 5):532-9. doi: 10.1111/j.1469-1809.2009.00535.x. Ann Hum Genet. 2009. PMID: 19691550

4

Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.

Carecchio M, Magliozzi M, Copetti M, Ferraris A, Bernardini L, Bonetti M, Defazio G, Edwards MJ, Torrente I, Pellegrini F, Comi C, Bhatia KP, Valente EM. Carecchio M, et al. Among authors: magliozzi m. Mov Disord. 2013 Jun;28(6):787-94. doi: 10.1002/mds.25506. Epub 2013 May 15. Mov Disord. 2013. PMID: 23677909

5

Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.

Nicita F, Garone G, Papetti L, Consoli F, Magliozzi M, De Luca A, Spalice A. Nicita F, et al. Among authors: magliozzi m. J Neurogenet. 2015;29(4):178-82. doi: 10.3109/01677063.2015.1091452. Epub 2015 Nov 11. J Neurogenet. 2015. PMID: 26559560

6

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.

Pannone L, Bocchinfuso G, Flex E, Rossi C, Baldassarre G, Lissewski C, Pantaleoni F, Consoli F, Lepri F, Magliozzi M, Anselmi M, Delle Vigne S, Sorge G, Karaer K, Cuturilo G, Sartorio A, Tinschert S, Accadia M, Digilio MC, Zampino G, De Luca A, Cavé H, Zenker M, Gelb BD, Dallapiccola B, Stella L, Ferrero GB, Martinelli S, Tartaglia M. Pannone L, et al. Among authors: magliozzi m. Hum Mutat. 2017 Apr;38(4):451-459. doi: 10.1002/humu.23175. Epub 2017 Feb 7. Hum Mutat. 2017. PMID: 28074573

7

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.

8

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

9

Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.

Baban A, Adorisio R, Corica B, Rizzo C, Calì F, Semeraro M, Taurisano R, Magliozzi M, Carrozzo R, Parisi F, Dallapiccola B, Vaz FM, Drago F, Dionisi-Vici C. Baban A, et al. Among authors: magliozzi m. Am J Med Genet A. 2020 Jan;182(1):64-70. doi: 10.1002/ajmg.a.61383. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729175

10

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.

Kortüm F, Niceta M, Magliozzi M, Dumic Kubat K, Robertson SP, Moresco A, Dentici ML, Baban A, Leoni C, Onesimo R, Obregon MG, Digilio MC, Zampino G, Novelli A, Tartaglia M, Kutsche K. Kortüm F, et al. Among authors: magliozzi m. Eur J Med Genet. 2020 Sep;63(9):103996. doi: 10.1016/j.ejmg.2020.103996. Epub 2020 Jul 2. Eur J Med Genet. 2020. PMID: 32622958

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

31 results

Search Page