Romano V - Search Results

1

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

Guldberg P, Rey F, Zschocke J, Romano V, François B, Michiels L, Ullrich K, Hoffmann GF, Burgard P, Schmidt H, Meli C, Riva E, Dianzani I, Ponzone A, Rey J, Güttler F. Guldberg P, et al. Among authors: romano v. Am J Hum Genet. 1998 Jul;63(1):71-9. doi: 10.1086/301920. Am J Hum Genet. 1998. PMID: 9634518 Free PMC article.

2

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.

Guldberg P, Romano V, Ceratto N, Bosco P, Ciuna M, Indelicato A, Mollica F, Meli C, Giovannini M, Riva E, et al. Guldberg P, et al. Among authors: romano v. Hum Mol Genet. 1993 Oct;2(10):1703-7. doi: 10.1093/hmg/2.10.1703. Hum Mol Genet. 1993. PMID: 8268925

3

PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population.

Romano V, Guldberg P, Güttler F, Meli C, Mollica F, Pavone L, Giovannini M, Riva E, Biasucci G, Luotti D, Palillo L, Calí F, Ceratto N, Anello G, Bosco P. Romano V, et al. J Inherit Metab Dis. 1996;19(1):15-24. doi: 10.1007/BF01799343. J Inherit Metab Dis. 1996. PMID: 8830172

4

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

5

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. Among authors: romano v. Hum Genet. 1997 Sep;100(3-4):350-5. doi: 10.1007/s004390050515. Hum Genet. 1997. PMID: 9272154

6

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: romano v. 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

7

Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes.

Giannattasio S, Dianzani I, Lattanzio P, Spada M, Romano V, Calì F, Andria G, Ponzone A, Marra E, Piazza A. Giannattasio S, et al. Among authors: romano v. Hum Hered. 2001;52(3):154-9. doi: 10.1159/000053371. Hum Hered. 2001. PMID: 11588399

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

Prenatal diagnosis by minisatellite analysis in Italian families with phenylketonuria.

Romano V, Dianzani I, Ponzone A, Zammarchi E, Eisensmith R, Ceratto N, Bosco P, Indelicato A. Romano V, et al. Prenat Diagn. 1994 Oct;14(10):959-62. doi: 10.1002/pd.1970141011. Prenat Diagn. 1994. PMID: 7899270

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

704 results

Search Page

Filters