Margaglione M - Search Results

1

Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA).

Schirinzi A, Centra M, Prattichizzo C, Gigante M, De Fabritiis M, Giancaspro V, Petrarulo F, Santacroce R, Margaglione M, Gesualdo L, Ranieri E. Schirinzi A, et al. Among authors: margaglione m. Mol Genet Metab. 2008 Jul;94(3):382-5. doi: 10.1016/j.ymgme.2008.03.017. Epub 2008 May 9. Mol Genet Metab. 2008. PMID: 18472290

2

A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing.

Margaglione M, Santacroce R, Colaizzo D, Seripa D, Vecchione G, Lupone MR, De Lucia D, Fortina P, Grandone E, Perricone C, Di Minno G. Margaglione M, et al. Blood. 2000 Oct 1;96(7):2501-5. Blood. 2000. PMID: 11001903 Free article.

3

A comprehensive on-line digestion-liquid chromatography/mass spectrometry/collision-induced dissociation mass spectrometry approach for the characterization of human fibrinogen.

Vecchione G, Casetta B, Santacroce R, Margaglione M. Vecchione G, et al. Among authors: margaglione m. Rapid Commun Mass Spectrom. 2001;15(16):1383-90. doi: 10.1002/rcm.355. Rapid Commun Mass Spectrom. 2001. PMID: 11507749

4

A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo.

Margaglione M, Vecchione G, Santacroce R, D'Angelo F, Casetta B, Papa ML, Grandone E, Di Minno G. Margaglione M, et al. Thromb Haemost. 2001 Dec;86(6):1483-8. Thromb Haemost. 2001. PMID: 11776317

5

Protein Z gene polymorphisms are associated with protein Z plasma levels.

Santacroce R, Cappucci F, Di Perna P, Sessa F, Margaglione M. Santacroce R, et al. Among authors: margaglione m. J Thromb Haemost. 2004 Jul;2(7):1197-9. doi: 10.1111/j.1538-7836.2004.00808.x. J Thromb Haemost. 2004. PMID: 15219213 Free article. No abstract available.

6

The C677T methylenetetrahydrofolate reductase gene mutation does not influence cardiovascular risk in the dialysis population: results of a multicentre prospective study.

Aucella F, Margaglione M, Grandone E, Vigilante M, Gatta G, Forcella M, Ktena M, De Min A, Salatino G, Procaccini DA, Stallone C, Gesualdo L; Genetic Polymorphisms in Dialysis Study Group. Aucella F, et al. Among authors: margaglione m. Nephrol Dial Transplant. 2005 Feb;20(2):382-6. doi: 10.1093/ndt/gfh620. Epub 2004 Dec 23. Nephrol Dial Transplant. 2005. PMID: 15618240

7

Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family.

Gigante M, Greco P, Defazio V, Lucci M, Margaglione M, Gesualdo L, Iolascon A. Gigante M, et al. Among authors: margaglione m. Prenat Diagn. 2005 May;25(5):407-10. doi: 10.1002/pd.1171. Prenat Diagn. 2005. PMID: 15906409

8

Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia.

Santacroce R, Vecchione G, Tomaiyolo M, Sessa F, Sarno M, Colaizzo D, Grandone E, Margaglione M. Santacroce R, et al. Among authors: margaglione m. Haemophilia. 2006 Jul;12(4):417-22. doi: 10.1111/j.1365-2516.2006.01298.x. Haemophilia. 2006. PMID: 16834744

9

Low protein Z levels and risk of occurrence of deep vein thrombosis.

Santacroce R, Sarno M, Cappucci F, Sessa F, Colaizzo D, Brancaccio V, Grandone E, Margaglione M. Santacroce R, et al. Among authors: margaglione m. J Thromb Haemost. 2006 Nov;4(11):2417-22. doi: 10.1111/j.1538-7836.2006.02186.x. Epub 2006 Aug 25. J Thromb Haemost. 2006. PMID: 16938126 Free article. Clinical Trial.

10

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

Santacroce R, Acquila M, Belvini D, Castaldo G, Garagiola I, Giacomelli SH, Lombardi AM, Minuti B, Riccardi F, Salviato R, Tagliabue L, Grandone E, Margaglione M; AICE-Genetics Study Group. Santacroce R, et al. Among authors: margaglione m. J Hum Genet. 2008;53(3):275-284. doi: 10.1007/s10038-007-0238-y. Epub 2008 Jan 23. J Hum Genet. 2008. PMID: 18217193

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