Romano V - 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: romano c, romano v. 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

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: romano 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.

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. Among authors: romano v. 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

Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt.

Hashem N, Bosco P, Chiavetta V, Calì F, Ceratto N, Romano V. Hashem N, et al. Among authors: romano v. Hum Genet. 1996 Jul;98(1):3-6. doi: 10.1007/s004390050150. Hum Genet. 1996. PMID: 8682503

5

RFLP discordance in a PKU family due to a deletion in the PAH gene.

Bosco P, Ceratto N, Cali F, Goltsov AA, Eisensmith RC, Novelli G, Dalla Piccola B, Romano V. Bosco P, et al. Among authors: romano v. Turk J Pediatr. 1996 Oct-Dec;38(4):497-504. Turk J Pediatr. 1996. PMID: 8993180

6

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. Among authors: romano v. Int J Legal Med. 2001;114(4-5):229-31. doi: 10.1007/s004140000169. Int J Legal Med. 2001. PMID: 11355400

7

Identification of two new phenylalanine hydroxylase alleles in Sicilian phenylketonuric families.

Romano V, Ceratto N, Chiavetta V, Bosco P. Romano V, et al. J Inherit Metab Dis. 1993;16(3):599-601. doi: 10.1007/BF00711692. J Inherit Metab Dis. 1993. PMID: 7609461 No abstract available.

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: romano v. Mol Genet Metab. 2001 Nov;74(3):353-61. doi: 10.1006/mgme.2001.3211. Mol Genet Metab. 2001. PMID: 11708866

9

Association between haplotypes, hind III-VNTR alleles and mutations at the PAH locus in Sicily.

Romano V, Calì F, Guldberg P, Güttler F, Indelicato A, Bosco P, Ceratto N. Romano V, et al. Acta Paediatr Suppl. 1994 Dec;407:39-40. doi: 10.1111/j.1651-2227.1994.tb13446.x. Acta Paediatr Suppl. 1994. PMID: 7766953

10

Two novel PAH gene mutations detected in Italian phenylketonuric patients.

Argiolas A, Bosco P, Calì F, Ceratto N, Anello G, Riva E, Biasucci G, Carducci C, Romano V. Argiolas A, et al. Among authors: romano v. Hum Genet. 1997 Feb;99(2):275-8. doi: 10.1007/s004390050353. Hum Genet. 1997. PMID: 9048935

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