Perrotta CS - Search Results

1

Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.

Benvenuto M, Palumbo P, Di Muro E, Perrotta CS, Mazza T, Mandarà GML, Palumbo O, Carella M. Benvenuto M, et al. Among authors: perrotta cs. Genes (Basel). 2023 Oct 18;14(10):1958. doi: 10.3390/genes14101958. Genes (Basel). 2023. PMID: 37895307 Free PMC article.

2

NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L).

Salemi M, Mandarà LGM, Salluzzo MG, Schillaci FA, Castiglione R, Cordella A, Iorio R, Perrotta CS, Ferri R, Romano C. Salemi M, et al. Among authors: perrotta cs. Mol Biol Rep. 2023 Nov;50(11):9715-9720. doi: 10.1007/s11033-023-08764-z. Epub 2023 Oct 9. Mol Biol Rep. 2023. PMID: 37812352

3

Transcriptome Study in Sicilian Patients with Huntington's Disease.

Salemi M, Di Stefano V, Schillaci FA, Marchese G, Salluzzo MG, Cordella A, De Leo I, Perrotta CS, Nibali G, Lanza G, Ferri R. Salemi M, et al. Among authors: perrotta cs. Diagnostics (Basel). 2025 Feb 7;15(4):409. doi: 10.3390/diagnostics15040409. Diagnostics (Basel). 2025. PMID: 40002561 Free PMC article.

4

A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome.

Palumbo O, Mattina T, Palumbo P, Carella M, Perrotta CS. Palumbo O, et al. Among authors: perrotta cs. Mol Syndromol. 2014 Jan;5(1):11-8. doi: 10.1159/000356459. Epub 2013 Nov 28. Mol Syndromol. 2014. PMID: 24550760 Free PMC article.

5

Craniofacial characteristics of fragile X syndrome in mouse and man.

Heulens I, Suttie M, Postnov A, De Clerck N, Perrotta CS, Mattina T, Faravelli F, Forzano F, Kooy RF, Hammond P. Heulens I, et al. Among authors: perrotta cs. Eur J Hum Genet. 2013 Aug;21(8):816-23. doi: 10.1038/ejhg.2012.265. Epub 2012 Dec 5. Eur J Hum Genet. 2013. PMID: 23211703 Free PMC article.

6

Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature.

Kleefstra T, de Leeuw N, Wolf R, Nillesen WM, Schobers G, Mieloo H, Willemsen M, Perrotta CS, Poddighe PJ, Feenstra I, Draaisma J, van Ravenswaaij-Arts CM. Kleefstra T, et al. Among authors: perrotta cs. Am J Med Genet A. 2010 Sep;152A(9):2221-9. doi: 10.1002/ajmg.a.33529. Am J Med Genet A. 2010. PMID: 20683990 Review.

7

Jacobsen syndrome.

Mattina T, Perrotta CS, Grossfeld P. Mattina T, et al. Among authors: perrotta cs. Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. Orphanet J Rare Dis. 2009. PMID: 19267933 Free PMC article. Review.

8

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.

Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta CS, Mattina T, Memo L, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O. Rossi E, et al. Among authors: perrotta cs. J Med Genet. 2008 Mar;45(3):147-54. doi: 10.1136/jmg.2007.054007. Epub 2007 Nov 15. J Med Genet. 2008. PMID: 18006671 Free article.

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