Salvatore F - Search Results

1

A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy.

Frisso G, Limongelli G, Pacileo G, Del Giudice A, Forgione L, Calabrò P, Iacomino M, Detta N, Di Fonzo LM, Maddaloni V, Calabrò R, Salvatore F. Frisso G, et al. Among authors: salvatore f. Clin Genet. 2009 Jul;76(1):91-101. doi: 10.1111/j.1399-0004.2009.01190.x. Clin Genet. 2009. PMID: 19659763

2

Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity.

Carsana A, Frisso G, Tremolaterra MR, Lanzillo R, Vitale DF, Santoro L, Salvatore F. Carsana A, et al. Among authors: salvatore f. Ann Hum Genet. 2005 May;69(Pt 3):253-9. doi: 10.1046/j.1529-8817.2005.00160.x. Ann Hum Genet. 2005. PMID: 15845029

3

Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy.

Pastore L, Della Morte R, Frisso G, Alfinito F, Vitale D, Calise RM, Ferraro F, Zagari A, Rotoli B, Salvatore F. Pastore L, et al. Among authors: salvatore f. Hum Mutat. 1998;11(2):127-34. doi: 10.1002/(SICI)1098-1004(1998)11:2<127::AID-HUMU5>3.0.CO;2-G. Hum Mutat. 1998. PMID: 9482576

4

Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.

Daniele A, Cardillo G, Pennino C, Carbone MT, Scognamiglio D, Correra A, Pignero A, Castaldo G, Salvatore F. Daniele A, et al. Among authors: salvatore f. Ann Hum Genet. 2007 Mar;71(Pt 2):185-93. doi: 10.1111/j.1469-1809.2006.00328.x. Epub 2006 Nov 10. Ann Hum Genet. 2007. PMID: 17096675

5

Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure.

Castaldo G, Rippa E, Sebastio G, Raia V, Ercolini P, de Ritis G, Salvatore D, Salvatore F. Castaldo G, et al. Among authors: salvatore d, salvatore f. J Med Genet. 1996 Jun;33(6):475-9. doi: 10.1136/jmg.33.6.475. J Med Genet. 1996. PMID: 8782047 Free PMC article.

6

Dystrophinopathy in a young boy with Klinefelter's syndrome.

Santoro L, Pastore L, Rippa PG, Orsini AV, Del Giudice E, Vita G, Frisso G, Salvatore F. Santoro L, et al. Among authors: salvatore f. Muscle Nerve. 1998 Jun;21(6):792-5. doi: 10.1002/(sici)1097-4598(199806)21:6<792::aid-mus12>3.0.co;2-v. Muscle Nerve. 1998. PMID: 9585334

7

A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females.

Pastore L, Caporaso MG, Frisso G, Orsini A, Santoro L, Sacchetti L, Salvatore F. Pastore L, et al. Among authors: salvatore f. Mol Cell Probes. 1996 Apr;10(2):129-37. doi: 10.1006/mcpr.1996.0018. Mol Cell Probes. 1996. PMID: 8737397

8

A novel Mbo II polymorphism in exon 15 of the human adenomatous polyposis coli gene.

De Rosa M, Scarano MI, Panariello L, Salvatore F, Izzo P. De Rosa M, et al. Among authors: salvatore f. Clin Genet. 1998 Apr;53(4):315-6. doi: 10.1111/j.1399-0004.1998.tb02704.x. Clin Genet. 1998. PMID: 9650773 No abstract available.

9

Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations.

Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Raia V, Scarpa M, Goossens M, Salvatore F. Castaldo G, et al. Among authors: salvatore d, salvatore f. Clin Chem. 1999 Jul;45(7):957-62. Clin Chem. 1999. PMID: 10388469

10

Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population.

Castaldo G, Polizzi A, Tomaiuolo R, Cazeneuve C, Girodon E, Santostasi T, Salvatore D, Raia V, Rigillo N, Goossens M, Salvatore F. Castaldo G, et al. Among authors: salvatore d, salvatore f. Ann Hum Genet. 2005 Jan;69(Pt 1):15-24. doi: 10.1046/j.1529-8817.2004.00130.x. Ann Hum Genet. 2005. PMID: 15638824

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

858 results

Search Page

Filters