Chiavetta V - Search Results

1

PPP2R5E: New gene potentially involved in specific learning disorders and myopathy.

Musumeci A, Vinci M, Verbinnen I, Treccarichi S, Nigliato E, Chiavetta V, Greco D, Vitello GA, Federico C, Janssens V, Saccone S, Calì F. Musumeci A, et al. Among authors: chiavetta v. Gene. 2025 Jan 15;933:148945. doi: 10.1016/j.gene.2024.148945. Epub 2024 Sep 14. Gene. 2025. PMID: 39284558

2

Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.

Musumeci A, Calì F, Scuderi C, Vinci M, Vitello GA, Musumeci SA, Chiavetta V, Federico C, Amore G, Saccone S, Di Rosa G, Nicotera AG. Musumeci A, et al. Among authors: chiavetta v. Biomedicines. 2022 Sep 14;10(9):2276. doi: 10.3390/biomedicines10092276. Biomedicines. 2022. PMID: 36140376 Free PMC article.

3

Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder.

Nicotera AG, Amore G, Saia MC, Vinci M, Musumeci A, Chiavetta V, Federico C, Spoto G, Saccone S, Di Rosa G, Calì F. Nicotera AG, et al. Among authors: chiavetta v. Neuromolecular Med. 2023 Dec;25(4):650-656. doi: 10.1007/s12017-023-08759-w. Epub 2023 Sep 21. Neuromolecular Med. 2023. PMID: 37733178 Free PMC article.

4

Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms.

Vinci M, Greco D, Treccarichi S, Chiavetta V, Figura MG, Musumeci A, Greco V, Federico C, Calì F, Saccone S. Vinci M, et al. Among authors: chiavetta v. Genes (Basel). 2024 Aug 11;15(8):1056. doi: 10.3390/genes15081056. Genes (Basel). 2024. PMID: 39202416 Free PMC article.

5

Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson's Disease.

Cali F, Cantone M, Cosentino FII, Lanza G, Ruggeri G, Chiavetta V, Salluzzo R, Ragalmuto A, Vinci M, Ferri R. Cali F, et al. Among authors: chiavetta v. J Parkinsons Dis. 2019;9(1):203-206. doi: 10.3233/JPD-171292. J Parkinsons Dis. 2019. PMID: 30400105

6

Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene.

Vinci M, Kursula P, Greco D, Elia M, Vetri L, Schepis C, Chiavetta V, Donadio S, Roccella M, Carotenuto M, Romano V, Calì F. Vinci M, et al. Among authors: chiavetta v. Mol Genet Genomic Med. 2022 Sep;10(9):e2012. doi: 10.1002/mgg3.2012. Epub 2022 Jul 5. Mol Genet Genomic Med. 2022. PMID: 35789128 Free PMC article.

7

A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease.

Chiavetta V, Romano C, Calì F, Ruggeri G, Siragusa M, Greco D, Romano V, Schepis C. Chiavetta V, et al. G Ital Dermatol Venereol. 2016 Oct;151(5):582-5. G Ital Dermatol Venereol. 2016. PMID: 27595213 No abstract available.

8

An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis.

Schepis C, Failla P, Siragusa M, Chiavetta V, Ruggeri G, Calì F. Schepis C, et al. Among authors: chiavetta v. Eur J Dermatol. 2018 Feb 1;28(1):119-120. doi: 10.1684/ejd.2017.3186. Eur J Dermatol. 2018. PMID: 29400299 No abstract available.

9

Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients.

Calì F, Chiavetta V, Ragalmuto A, Vinci M, Ruggeri G, Schinocca P, Romano V. Calì F, et al. Among authors: chiavetta v. Genet Mol Res. 2013 Apr 12;12(2):1176-81. doi: 10.4238/2013.April.12.4. Genet Mol Res. 2013. PMID: 23661442 Free article.

10

Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.

Cali F, Ragalmuto A, Chiavetta V, Calabrese G, Fichera M, Vinci M, Ruggeri G, Schinocca P, Sturnio M, Romano S, Romano V, Elia M. Cali F, et al. Among authors: chiavetta v. Exp Mol Med. 2010 Dec 31;42(12):842-8. doi: 10.3858/emm.2010.42.12.087. Exp Mol Med. 2010. PMID: 21072004 Free PMC article.

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