Longo V - Search Results

1

Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.

Trunzo R, Santacroce R, D'Andrea G, Longo V, De Girolamo G, Dimatteo C, Leccese A, Bafunno V, Lillo V, Papadia F, Margaglione M. Trunzo R, et al. Among authors: longo v. Clin Chim Acta. 2015 Oct 23;450:51-5. doi: 10.1016/j.cca.2015.07.014. Epub 2015 Jul 23. Clin Chim Acta. 2015. PMID: 26210745

2

Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.

Leccese A, Longo V, Dimatteo C, De Girolamo G, Trunzo R, D'Andrea G, Bafunno V, Margaglione M, Santacroce R. Leccese A, et al. Among authors: longo v. Clin Chim Acta. 2014 Nov 1;437:48-51. doi: 10.1016/j.cca.2014.07.009. Epub 2014 Jul 12. Clin Chim Acta. 2014. PMID: 25025300

3

Mutation analysis in hyperphenylalaninemia patients from South Italy.

Trunzo R, Santacroce R, D'Andrea G, Longo V, De Girolamo G, Dimatteo C, Leccese A, Lillo V, Papadia F, Margaglione M. Trunzo R, et al. Among authors: longo v. Clin Biochem. 2013 Dec;46(18):1896-8. doi: 10.1016/j.clinbiochem.2013.06.009. Epub 2013 Jun 18. Clin Biochem. 2013. PMID: 23792259

4

Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees.

Trunzo R, Santacroce R, D'Andrea G, Longo V, De Girolamo G, Dimatteo C, Leccese A, Lillo V, Papadia F, Margaglione M. Trunzo R, et al. Among authors: longo v. Clin Biochem. 2014 Feb;47(3):233-5. doi: 10.1016/j.clinbiochem.2013.11.015. Epub 2013 Dec 1. Clin Biochem. 2014. PMID: 24296287

5

Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy.

Santacroce R, Santoro R, Sessa F, Iannaccaro P, Sarno M, Longo V, Gallone A, Vecchione G, Muleo G, Margaglione M. Santacroce R, et al. Among authors: longo v. Blood Coagul Fibrinolysis. 2008 Apr;19(3):197-202. doi: 10.1097/MBC.0b013e3282f234ab. Blood Coagul Fibrinolysis. 2008. PMID: 18388498

6

Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification.

Santacroce R, Longo V, Bafunno V, Sessa F, Chetta M, Sarno M, Bukvic N, D'Andrea G, Tomaiuolo M, Margaglione M. Santacroce R, et al. Among authors: longo v. Genet Test Mol Biomarkers. 2009 Oct;13(5):573-6. doi: 10.1089/gtmb.2009.0015. Genet Test Mol Biomarkers. 2009. PMID: 19715469

7

Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia.

D'Andrea G, Schiavulli M, Dimatteo C, Santacroce R, Guerra E, Longo VA, Grandone E, Margaglione M. D'Andrea G, et al. Blood. 2013 Dec 19;122(26):4289-91. doi: 10.1182/blood-2013-09-528943. Blood. 2013. PMID: 24357714 Free article. No abstract available.

8

Outcome of patients with splanchnic venous thrombosis presenting without overt MPN: a role for the JAK2 V617F mutation re-evaluation.

Colaizzo D, Amitrano L, Guardascione MA, Tiscia GL, D'Andrea G, Longo VA, Grandone E, Margaglione M. Colaizzo D, et al. Thromb Res. 2013 Aug;132(2):e99-e104. doi: 10.1016/j.thromres.2013.07.014. Epub 2013 Aug 1. Thromb Res. 2013. PMID: 23916380

9

Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: a possible synergic effect?

Bukvic N, Sportelli F, Sessa F, Longo V, Roberti MG, Santacroce R, Margaglione M. Bukvic N, et al. Among authors: longo v. Hemoglobin. 2009;33(2):155-7. doi: 10.1080/03630260902817354. Hemoglobin. 2009. PMID: 19373593

10

Polymorphic miRNA-mediated gene contribution to inhibitor development in haemophilia A.

Bafunno V, Santacroce R, Chetta M, Peyvandi F, Sessa F, Chinni E, Longo V, Margaglione M. Bafunno V, et al. Among authors: longo v. Haemophilia. 2012 Nov;18(6):1003-7. doi: 10.1111/j.1365-2516.2012.02882.x. Epub 2012 Jun 6. Haemophilia. 2012. PMID: 22672258

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

682 results

Search Page