Guella I - Search Results

1

Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA.

Asselta R, Rimoldi V, Guella I, Soldà G, De Cristofaro R, Peyvandi F, Duga S. Asselta R, et al. Among authors: guella i. Blood. 2010 Mar 11;115(10):2065-72. doi: 10.1182/blood-2009-09-245092. Epub 2009 Dec 30. Blood. 2010. PMID: 20042724 Free article.

2

Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.

Guella I, Soldà G, Spena S, Asselta R, Ghiotto R, Tenchini ML, Castaman G, Duga S. Guella I, et al. Thromb Haemost. 2008 Mar;99(3):523-30. doi: 10.1160/TH07-12-0723. Thromb Haemost. 2008. PMID: 18327400

3

Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.

Dall'Osso C, Guella I, Duga S, Locatelli N, Paraboschi EM, Spreafico M, Afrasiabi A, Pechlaner C, Peyvandi F, Tenchini ML, Asselta R. Dall'Osso C, et al. Among authors: guella i. Haematologica. 2008 Oct;93(10):1505-13. doi: 10.3324/haematol.12934. Epub 2008 Aug 25. Haematologica. 2008. PMID: 18728029 Free article.

4

Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency.

Guella I, Paraboschi EM, van Schalkwyk WA, Asselta R, Duga S. Guella I, et al. Thromb Haemost. 2011 Aug;106(2):296-303. doi: 10.1160/TH11-03-0149. Epub 2011 May 26. Thromb Haemost. 2011. PMID: 21614419

5

Factor XI deficiency in Southern Iran: identification of a novel missense mutation.

Karimi M, Jafari H, Lahsaeizadeh S, Afrasiabi A, Akbari A, Dehbozorgian J, Ardeshiri R, Guella I, Asselta R, Peyvandi F. Karimi M, et al. Among authors: guella i. Ann Hematol. 2009 Apr;88(4):359-63. doi: 10.1007/s00277-008-0595-4. Epub 2008 Aug 29. Ann Hematol. 2009. PMID: 18758779

6

Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene.

Guella I, Pistocchi A, Asselta R, Rimoldi V, Ghilardi A, Sironi F, Trotta L, Primignani P, Zini M, Zecchinelli A, Coviello D, Pezzoli G, Del Giacco L, Duga S, Goldwurm S. Guella I, et al. Neurobiol Aging. 2011 Nov;32(11):1994-2005. doi: 10.1016/j.neurobiolaging.2009.12.016. Epub 2010 Jan 8. Neurobiol Aging. 2011. PMID: 20060621

7

Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population.

Guella I, Asselta R, Ardissino D, Merlini PA, Peyvandi F, Kathiresan S, Mannucci PM, Tubaro M, Duga S. Guella I, et al. J Lipid Res. 2010 Nov;51(11):3342-9. doi: 10.1194/jlr.M010009. Epub 2010 Aug 10. J Lipid Res. 2010. PMID: 20699424 Free PMC article.

8

Common variants in the haemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population.

Guella I, Duga S, Ardissino D, Merlini PA, Peyvandi F, Mannucci PM, Asselta R. Guella I, et al. Thromb Haemost. 2011 Oct;106(4):655-64. doi: 10.1160/TH11-04-0247. Epub 2011 Sep 8. Thromb Haemost. 2011. PMID: 21901231

9

SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population.

Trotta L, Guella I, Soldà G, Sironi F, Tesei S, Canesi M, Pezzoli G, Goldwurm S, Duga S, Asselta R. Trotta L, et al. Among authors: guella i. Parkinsonism Relat Disord. 2012 Mar;18(3):257-62. doi: 10.1016/j.parkreldis.2011.10.014. Epub 2011 Nov 21. Parkinsonism Relat Disord. 2012. PMID: 22104010 Free PMC article.

10

Glucocerebrosidase mutations in primary parkinsonism.

Asselta R, Rimoldi V, Siri C, Cilia R, Guella I, Tesei S, Soldà G, Pezzoli G, Duga S, Goldwurm S. Asselta R, et al. Among authors: guella i. Parkinsonism Relat Disord. 2014 Nov;20(11):1215-20. doi: 10.1016/j.parkreldis.2014.09.003. Epub 2014 Sep 9. Parkinsonism Relat Disord. 2014. PMID: 25249066 Free PMC article.

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