Schinocca P - Search Results

1

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. Among authors: schinocca p. 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.

2

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: schinocca p. 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.

3

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. Among authors: schinocca p. J Genet. 2014 Apr;93(1):179-81. doi: 10.1007/s12041-014-0323-x. J Genet. 2014. PMID: 24840836 No abstract available.

4

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: schinocca p. 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.

5

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. Among authors: schinocca p. 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.

6

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

Alberti A, Romano C, Falco M, Calì F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M. Alberti A, et al. Among authors: schinocca p. Clin Genet. 2007 Feb;71(2):177-82. doi: 10.1111/j.1399-0004.2007.00750.x. Clin Genet. 2007. PMID: 17250668

7

Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families.

Romano V, Calì F, Seidita G, Mirisola M, D'Anna RP, Gambino G, Schinocca P, Romano S, Ayala GF, Canziani F, De Leo G, Elia M. Romano V, et al. Among authors: schinocca p. Psychiatr Genet. 2005 Jun;15(2):149-50. doi: 10.1097/00041444-200506000-00013. Psychiatr Genet. 2005. PMID: 15900231

8

PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysis.

Mirisola MG, Cali F, Gloria A, Schinocca P, D'Amato M, Cassara G, Leo GD, Palillo L, Meli C, Romano V. Mirisola MG, et al. Among authors: schinocca p. Mol Genet Metab. 2001 Nov;74(3):353-61. doi: 10.1006/mgme.2001.3211. Mol Genet Metab. 2001. PMID: 11708866

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