Savio C - Search Results

1

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

Rubattu S, Bozzao C, Pennacchini E, Pagannone E, Musumeci BM, Piane M, Germani A, Savio C, Francia P, Volpe M, Autore C, Chessa L. Rubattu S, et al. Among authors: savio c. Int J Mol Sci. 2016 Jul 30;17(8):1239. doi: 10.3390/ijms17081239. Int J Mol Sci. 2016. PMID: 27483260 Free PMC article.

2

MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.

Delia D, Piane M, Buscemi G, Savio C, Palmeri S, Lulli P, Carlessi L, Fontanella E, Chessa L. Delia D, et al. Among authors: savio c. Hum Mol Genet. 2004 Sep 15;13(18):2155-63. doi: 10.1093/hmg/ddh221. Epub 2004 Jul 21. Hum Mol Genet. 2004. PMID: 15269180

3

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. Among authors: savio c. Dis Markers. 2006;22(4):257-64. doi: 10.1155/2006/740493. Dis Markers. 2006. PMID: 17124347 Free PMC article.

4

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: savio c. 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

5

Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.

Silvestri G, Masciullo M, Piane M, Savio C, Modoni A, Santoro M, Chessa L. Silvestri G, et al. Among authors: savio c. J Neurol. 2010 Oct;257(10):1738-40. doi: 10.1007/s00415-010-5583-7. Epub 2010 May 18. J Neurol. 2010. PMID: 20480175 No abstract available.

6

Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing.

Magrì D, Mastromarino V, Gallo G, Zachara E, Re F, Agostoni P, Giordano D, Rubattu S, Forte M, Cotugno M, Torrisi MR, Petrucci S, Germani A, Savio C, Maruotti A, Volpe M, Autore C, Piane M, Musumeci B. Magrì D, et al. Among authors: savio c. J Clin Med. 2020 May 28;9(6):1636. doi: 10.3390/jcm9061636. J Clin Med. 2020. PMID: 32481709 Free PMC article.

7

Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.

Germani A, Petrucci S, De Marchis L, Libi F, Savio C, Amanti C, Bonifacino A, Campanella B, Capalbo C, Lombardi A, Maggi S, Mattei M, Osti MF, Pellegrini P, Speranza A, Stanzani G, Vitale V, Pizzuti A, Torrisi MR, Piane M. Germani A, et al. Among authors: savio c. J Clin Med. 2020 Sep 17;9(9):3003. doi: 10.3390/jcm9093003. J Clin Med. 2020. PMID: 32957588 Free PMC article.

8

TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report.

Cava F, Cristiano E, Musumeci MB, Savio C, Germani A, Monaco ML, Petrucci S, Torrisi MR, Autore C, Rubattu S, Piane M. Cava F, et al. Among authors: savio c. Mol Genet Metab Rep. 2021 Mar 18;27:100743. doi: 10.1016/j.ymgmr.2021.100743. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33777698 Free PMC article.

9

A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome.

Micolonghi C, Piane M, Germani A, Sadeghi S, Libi F, Savio C, Fabiani M, Mancini R, Ranieri D, Pizzuti A, Corleto VD, Parisi P, Visco V, Di Nardo G, Petrucci S. Micolonghi C, et al. Among authors: savio c. Diagnostics (Basel). 2022 Nov 4;12(11):2684. doi: 10.3390/diagnostics12112684. Diagnostics (Basel). 2022. PMID: 36359527 Free PMC article.

10

A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy.

Micolonghi C, Fabiani M, Pagannone E, Savio C, Ricci M, Caroselli S, Gambioli V, Musumeci B, Germani A, Tini G, Autore C, Pizzuti A, Visco V, Rubattu S, Petrucci S, Piane M. Micolonghi C, et al. Among authors: savio c. Curr Issues Mol Biol. 2023 Mar 15;45(3):2422-2430. doi: 10.3390/cimb45030157. Curr Issues Mol Biol. 2023. PMID: 36975527 Free PMC article.

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