Calì F - Search Results

1

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: cali f. 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.

2

MtDNA control region and RFLP data for Sicily and France.

Cali F, Le Roux MG, D'Anna R, Flugy A, De Leo G, Chiavetta V, Ayala GF, Romano V. Cali F, et al. Int J Legal Med. 2001;114(4-5):229-31. doi: 10.1007/s004140000169. Int J Legal Med. 2001. PMID: 11355400

3

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.

Cali F, Ruggeri G, Vinci M, Meli C, Carducci C, Leuzzi V, Pozzessere S, Schinocca P, Ragalmuto A, Chiavetta V, Micciche S, Romano V. Cali F, et al. Exp Mol Med. 2010 Feb 28;42(2):81-6. doi: 10.3858/emm.2010.42.2.009. Exp Mol Med. 2010. PMID: 19946181 Free PMC article.

4

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. 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.

5

Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome.

Calì F, Failla P, Chiavetta V, Ragalmuto A, Ruggeri G, Schinocca P, Schepis C, Romano V, Romano C. Calì F, et al. Genet Mol Res. 2013 Jan 7;12(3):2809-15. doi: 10.4238/2013.January.7.2. Genet Mol Res. 2013. PMID: 23315884 Free article.

6

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. 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.

7

Carrier screening for spinal muscular atrophy in Italian population.

Calì F, Ruggeri G, Chiavetta V, Scuderi C, Bianca S, Barone C, Ragalmuto A, Schinocca P, Vitello GA, Romano V, Musumeci S. Calì F, et al. J Genet. 2014 Apr;93(1):179-81. doi: 10.1007/s12041-014-0323-x. J Genet. 2014. PMID: 24840836 No abstract available.

8

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. Among authors: cali f. G Ital Dermatol Venereol. 2016 Oct;151(5):582-5. G Ital Dermatol Venereol. 2016. PMID: 27595213 No abstract available.

9

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.

Calì F, Chiavetta V, Ruggeri G, Piccione M, Selicorni A, Palazzo D, Bonsignore M, Cereda A, Elia M, Failla P, Figura MG, Fiumara A, Maitz S, Luana Mandarà GM, Mattina T, Ragalmuto A, Romano C, Ruggieri M, Salluzzo R, Saporoso A, Schepis C, Sorge G, Spanò M, Tortorella G, Romano V. Calì F, et al. Eur J Med Genet. 2017 Feb;60(2):93-99. doi: 10.1016/j.ejmg.2016.11.001. Epub 2016 Nov 9. Eur J Med Genet. 2017. PMID: 27838393

10

Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy.

Schepis C, Failla P, Siragusa M, Vinci M, Calì F. Schepis C, et al. Among authors: cali f. G Ital Dermatol Venereol. 2020 Apr;155(2):239-240. doi: 10.23736/S0392-0488.18.05931-X. Epub 2018 May 16. G Ital Dermatol Venereol. 2020. PMID: 29781262 No abstract available.

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