Frisso G - Search Results

1

Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.

Mazzaccara C, Lombardi R, Mirra B, Barretta F, Esposito MV, Uomo F, Caiazza M, Monda E, Losi MA, Limongelli G, D'Argenio V, Frisso G. Mazzaccara C, et al. Among authors: frisso g. Biomolecules. 2022 Oct 3;12(10):1417. doi: 10.3390/biom12101417. Biomolecules. 2022. PMID: 36291626 Free PMC article.

2

Novel deletion mutation in the cardiac sodium channel inactivation gate causes long QT syndrome.

Detta N, Frisso G, Zullo A, Sarubbi B, Cozzolino C, Romeo E, Wang DW, Calabrò R, Salvatore F, George AL Jr. Detta N, et al. Among authors: frisso g. Int J Cardiol. 2013 May 10;165(2):362-5. doi: 10.1016/j.ijcard.2012.08.032. Epub 2012 Sep 12. Int J Cardiol. 2013. PMID: 22980924 Free PMC article. No abstract available.

3

Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population.

Simonelli F, Frisso G, Testa F, di Fiore R, Vitale DF, Manitto MP, Brancato R, Rinaldi E, Sacchetti L. Simonelli F, et al. Among authors: frisso g. Br J Ophthalmol. 2006 Sep;90(9):1142-5. doi: 10.1136/bjo.2006.096487. Epub 2006 Jun 14. Br J Ophthalmol. 2006. PMID: 16774956 Free PMC article.

4

Dystrophinopathy in a young boy with Klinefelter's syndrome.

Santoro L, Pastore L, Rippa PG, Orsini AV, Del Giudice E, Vita G, Frisso G, Salvatore F. Santoro L, et al. Among authors: frisso g. Muscle Nerve. 1998 Jun;21(6):792-5. doi: 10.1002/(sici)1097-4598(199806)21:6<792::aid-mus12>3.0.co;2-v. Muscle Nerve. 1998. PMID: 9585334

5

Prenatal diagnosis of inherited diseases: 20 years' experience of an Italian Regional Reference Centre.

Maruotti GM, Frisso G, Calcagno G, Fortunato G, Castaldo G, Martinelli P, Sacchetti L, Salvatore F. Maruotti GM, et al. Among authors: frisso g. Clin Chem Lab Med. 2013 Dec;51(12):2211-7. doi: 10.1515/cclm-2013-0194. Clin Chem Lab Med. 2013. PMID: 23612671

6

Efficacy of pharmacological treatment and genetic characterization in early diagnosed patients affected by long QT syndrome with impaired AV conduction.

Sarubbi B, Frisso G, Romeo E, Evangelista E, Cordella A, D'Alto M, Santarpia G, Russo MG, Salvatore F, Calabrò R. Sarubbi B, et al. Among authors: frisso g. Int J Cardiol. 2011 May 19;149(1):109-13. doi: 10.1016/j.ijcard.2010.12.099. Epub 2011 Apr 9. Int J Cardiol. 2011. PMID: 21481956 No abstract available.

7

A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy.

Frisso G, Limongelli G, Pacileo G, Del Giudice A, Forgione L, Calabrò P, Iacomino M, Detta N, Di Fonzo LM, Maddaloni V, Calabrò R, Salvatore F. Frisso G, et al. Clin Genet. 2009 Jul;76(1):91-101. doi: 10.1111/j.1399-0004.2009.01190.x. Clin Genet. 2009. PMID: 19659763

8

DNA sequence capture and next-generation sequencing for the molecular diagnosis of genetic cardiomyopathies.

D'Argenio V, Frisso G, Precone V, Boccia A, Fienga A, Pacileo G, Limongelli G, Paolella G, Calabrò R, Salvatore F. D'Argenio V, et al. Among authors: frisso g. J Mol Diagn. 2014 Jan;16(1):32-44. doi: 10.1016/j.jmoldx.2013.07.008. Epub 2013 Oct 31. J Mol Diagn. 2014. PMID: 24183960 Free article.

9

Genetic analysis in a family affected by sick sinus syndrome may reduce the sudden death risk in a young aspiring competitive athlete.

Detta N, Frisso G, Limongelli G, Marzullo M, Calabrò R, Salvatore F. Detta N, et al. Among authors: frisso g. Int J Cardiol. 2014 Jan 1;170(3):e63-5. doi: 10.1016/j.ijcard.2013.11.013. Epub 2013 Nov 12. Int J Cardiol. 2014. PMID: 24295898 Free article. No abstract available.

10

Should a BRCA2 stop codon human variant, usually considered a polymorphism, be classified as a predisposing mutation?

D'Argenio V, Esposito MV, Gilder JA, Frisso G, Salvatore F. D'Argenio V, et al. Among authors: frisso g. Cancer. 2014 May 15;120(10):1594-5. doi: 10.1002/cncr.28605. Epub 2014 Feb 5. Cancer. 2014. PMID: 24500773 Free article. No abstract available.

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