D'Andrea G - Search Results

1

Deep intronic variations may cause mild hemophilia A.

Castaman G, Giacomelli SH, Mancuso ME, D'Andrea G, Santacroce R, Sanna S, Santagostino E, Mannucci PM, Goodeve A, Rodeghiero F. Castaman G, et al. J Thromb Haemost. 2011 Aug;9(8):1541-8. doi: 10.1111/j.1538-7836.2011.04408.x. J Thromb Haemost. 2011. PMID: 21689372 Free article.

2

A novel G-to-A mutation in the intron-N of the protein S gene leading to abnormal RNA splicing in a patient with protein S deficiency.

D'Andrea G, Di Perna P, Brancaccio V, Faioni EM, Castaman G, Cibelli G, Di Minno G, Margaglione M; Protein S Italian Team. D'Andrea G, et al. Haematologica. 2003 Apr;88(4):459-64. Haematologica. 2003. PMID: 12681974

3

Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.

Biguzzi E, Razzari C, Lane DA, Castaman G, Cappellari A, Bucciarelli P, Fontana G, Margaglione M, D'Andrea G, Simmonds RE, Rezende SM, Preston R, Prisco D, Faioni EM; Protein S Italian Team. Biguzzi E, et al. Hum Mutat. 2005 Mar;25(3):259-69. doi: 10.1002/humu.20136. Hum Mutat. 2005. PMID: 15712227

4

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. Genet Test Mol Biomarkers. 2009 Oct;13(5):573-6. doi: 10.1089/gtmb.2009.0015. Genet Test Mol Biomarkers. 2009. PMID: 19715469

5

Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A.

Bafunno V, Santacroce R, Chetta M, D'Andrea G, Pisanelli D, Sessa F, Trotta T, Tagariello G, Peyvandi F, Margaglione M. Bafunno V, et al. Haemophilia. 2010 May;16(3):469-73. doi: 10.1111/j.1365-2516.2009.02150.x. Epub 2009 Dec 14. Haemophilia. 2010. PMID: 20015215

6

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. 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

7

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. 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

8

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. 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

9

Clinical utility of screening for CALR gene exon 9 mutations in patients with splanchnic venous thrombosis.

Colaizzo D, Amitrano L, Guardascione MA, Favuzzi G, Tiscia GL, D'Andrea G, Santacroce R, Grandone E, Margaglione M. Colaizzo D, et al. Thromb Haemost. 2015 Jun;113(6):1381-2. doi: 10.1160/TH14-12-1055. Epub 2015 Mar 12. Thromb Haemost. 2015. PMID: 25761617 No abstract available.

10

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. 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

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