Calì F - 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. 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

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. Among authors: cali f. Acta Paediatr Suppl. 1994 Dec;407:39-40. doi: 10.1111/j.1651-2227.1994.tb13446.x. Acta Paediatr Suppl. 1994. PMID: 7766953

3

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: cali f. Hum Genet. 1996 Jul;98(1):3-6. doi: 10.1007/s004390050150. Hum Genet. 1996. PMID: 8682503

4

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: cali f. Turk J Pediatr. 1996 Oct-Dec;38(4):497-504. Turk J Pediatr. 1996. PMID: 8993180

5

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: cali f. Hum Genet. 1997 Feb;99(2):275-8. doi: 10.1007/s004390050353. Hum Genet. 1997. PMID: 9048935

6

The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples.

Calì F, Dianzani I, Desviat LR, Perez B, Ugarte M, Ozguc M, Seyrantepe V, Shiloh Y, Giannattasio S, Carducci C, Bosco P, De Leo G, Piazza A, Romano V. Calì F, et al. Hum Genet. 1997 Sep;100(3-4):350-5. doi: 10.1007/s004390050515. Hum Genet. 1997. PMID: 9272154

7

Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.

Bosco P, Cali F, Meli C, Mollica F, Zammarchi E, Cerone R, Vanni C, Palillo L, Greco D, Romano V. Bosco P, et al. Among authors: cali f. Hum Mutat. 1998;11(3):240-3. doi: 10.1002/(SICI)1098-1004(1998)11:3<240::AID-HUMU9>3.0.CO;2-L. Hum Mutat. 1998. PMID: 9521426

8

A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia.

Romano V, Lio D, Calì F, Scola L, Leggio L, D'Anna C, DeLeo G, Salermo A. Romano V, et al. Among authors: cali f. Mol Cell Probes. 2001 Feb;15(1):13-9. doi: 10.1006/mcpr.2000.0330. Mol Cell Probes. 2001. PMID: 11284432

9

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

10

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: cali f. 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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