Magliozzi M - Search Results

1

Neonatal diagnosis of ACTA2-related disease: A case report and review of literature.

Lupo V, Di Gregorio MG, Mastrogiorgio G, Magliozzi M, Scapillati ME, Maglione V, Romanelli E, Alegiani C, Haass C, Novelli A. Lupo V, et al. Among authors: magliozzi m. Am J Med Genet A. 2023 Apr;191(4):1111-1118. doi: 10.1002/ajmg.a.63118. Epub 2023 Jan 6. Am J Med Genet A. 2023. PMID: 36607831 Review.

2

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

3

ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression.

Guarini A, Marinelli M, Tavolaro S, Bellacchio E, Magliozzi M, Chiaretti S, De Propris MS, Peragine N, Santangelo S, Paoloni F, Nanni M, Del Giudice I, Mauro FR, Torrente I, Foà R. Guarini A, et al. Among authors: magliozzi m. Haematologica. 2012 Jan;97(1):47-55. doi: 10.3324/haematol.2011.049270. Epub 2011 Oct 11. Haematologica. 2012. PMID: 21993670 Free PMC article.

4

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.

5

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

6

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

7

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.

8

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.

9

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

10

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

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