Margaglione M - Search Results

1

Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism.

Piccoli C, Ripoli M, Quarato G, Scrima R, D'Aprile A, Boffoli D, Margaglione M, Criscuolo C, De Michele G, Sardanelli A, Papa S, Capitanio N. Piccoli C, et al. Among authors: margaglione m. J Med Genet. 2008 Sep;45(9):596-602. doi: 10.1136/jmg.2008.058628. Epub 2008 Jun 4. J Med Genet. 2008. PMID: 18524835

2

Pathogenic DNM1L Variant (1085G>A) Linked to Infantile Progressive Neurological Disorder: Evidence of Maternal Transmission by Germline Mosaicism and Influence of a Contemporary in cis Variant (1535T>C).

Piccoli C, Scrima R, D'Aprile A, Chetta M, Cela O, Pacelli C, Ripoli M, D'Andrea G, Margaglione M, Bukvic N, Capitanio N. Piccoli C, et al. Among authors: margaglione m. Genes (Basel). 2021 Aug 24;12(9):1295. doi: 10.3390/genes12091295. Genes (Basel). 2021. PMID: 34573276 Free PMC article.

3

Gain-of-function gene mutations and venous thromboembolism: distinct roles in different clinical settings.

Colaizzo D, Amitrano L, Iannaccone L, Vergura P, Cappucci F, Grandone E, Guardascione MA, Margaglione M. Colaizzo D, et al. Among authors: margaglione m. J Med Genet. 2007 Jun;44(6):412-6. doi: 10.1136/jmg.2006.048371. Epub 2007 Feb 16. J Med Genet. 2007. PMID: 17307838 Free PMC article.

4

Absence of apolipoprotein B3500 mutation in type 2a hyperlipoproteinemia patients and in the general population from southern Italy.

Seripa D, Gravina C, Volpe R, Margaglione M, Papa S, Merla G, Parrella P, Di Minno G, Ricci G, Testa M, Fazio VM. Seripa D, et al. Among authors: margaglione m. J Inherit Metab Dis. 1999 Jun;22(5):670-1. doi: 10.1023/a:1005550601952. J Inherit Metab Dis. 1999. PMID: 10399102 No abstract available.

5

Inherited platelet disorders: thrombocytopenias and thrombocytopathies.

D'Andrea G, Chetta M, Margaglione M. D'Andrea G, et al. Among authors: margaglione m. Blood Transfus. 2009 Oct;7(4):278-92. doi: 10.2450/2009.0078-08. Blood Transfus. 2009. PMID: 20011639 Free PMC article. Review. No abstract available.

6

Rare Defects: Looking at the Dark Face of the Thrombosis.

D'Andrea G, Margaglione M. D'Andrea G, et al. Among authors: margaglione m. Int J Environ Res Public Health. 2021 Aug 30;18(17):9146. doi: 10.3390/ijerph18179146. Int J Environ Res Public Health. 2021. PMID: 34501736 Free PMC article. Review.

7

Glanzmann's thrombasthenia: modulation of clinical phenotype by alpha2C807T gene polymorphism.

D'Andrea G, Margaglione M; Glansmann's Thrombasthemia Italian Team (GLATIT). D'Andrea G, et al. Among authors: margaglione m. Haematologica. 2003 Dec;88(12):1378-82. Haematologica. 2003. PMID: 14687991

8

McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family.

Chetta M, Bukvic N, Bafunno V, Sarno M, Magaldi R, Grilli G, Bertozzi V, Perfetto F, Margaglione M. Chetta M, et al. Among authors: margaglione m. Indian J Hum Genet. 2011 May;17(2):94-6. doi: 10.4103/0971-6866.86194. Indian J Hum Genet. 2011. PMID: 22090721 Free PMC article.

9

Oral anticoagulants: Pharmacogenetics Relationship between genetic and non-genetic factors.

D'Andrea G, D'Ambrosio R, Margaglione M. D'Andrea G, et al. Among authors: margaglione m. Blood Rev. 2008 May;22(3):127-40. doi: 10.1016/j.blre.2007.11.004. Epub 2008 Jan 30. Blood Rev. 2008. PMID: 18234403 Review.

10

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

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