Girolami A - Search Results

1

A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy.

Girolami A, Scarparo P, Bonamigo E, Santarossa L, Cristiani A, Moro S, Lombardi AM. Girolami A, et al. Eur J Haematol. 2012 Mar;88(3):229-36. doi: 10.1111/j.1600-0609.2011.01723.x. Epub 2011 Nov 17. Eur J Haematol. 2012. PMID: 21999818

2

Genetic study in patients with factor XII deficiency: a report of three new mutations exon 13 (Q501STOP), exon 14 (P547L) and -13C>T promoter region in three compound heterozygotes.

Lombardi AM, Bortoletto E, Scarparo P, Scapin M, Santarossa L, Girolami A. Lombardi AM, et al. Among authors: girolami a. Blood Coagul Fibrinolysis. 2008 Oct;19(7):639-43. doi: 10.1097/MBC.0b013e32830d8629. Blood Coagul Fibrinolysis. 2008. PMID: 18832903

3

Worldwide diffusion of FVII Arg304Gln coagulation defect (FVII Padua).

Girolami A, Berti de Marinis G, Bonamigo E, Allemand E. Girolami A, et al. Eur J Haematol. 2011 Feb;86(2):135-9. doi: 10.1111/j.1600-0609.2010.01544.x. Epub 2010 Dec 29. Eur J Haematol. 2011. PMID: 20958793

4

A family with factor-XI deficiency due to a compound heterozygosis between Gln 47 Pro (new mutation) in exon 3 and Leu 619 Pro in exon 15.

Girolami A, Sambado L, Peroni E, Santarossa L, Lombardi AM. Girolami A, et al. Blood Coagul Fibrinolysis. 2014 Mar;25(2):191-5. doi: 10.1097/MBC.0b013e3283641935. Blood Coagul Fibrinolysis. 2014. PMID: 24121361

5

Prevalence of bleeding manifestations in 128 heterozygotes for Factor X deficiency, mainly for FX Friuli, matched versus 128 unaffected family members, during a long sequential observation period (23.5 years).

Girolami A, Cosi E, Santarossa C, Ferrari S, Girolami B, Lombardi AM. Girolami A, et al. Among authors: girolami b. Eur J Haematol. 2016 Dec;97(6):547-553. doi: 10.1111/ejh.12767. Epub 2016 May 30. Eur J Haematol. 2016. PMID: 27124643

6

A novel type I factor X variant (factor X Cys350Phe) due to loss of a disulfide bond in the catalytic domain.

Vianello F, Lombardi AM, Bello FD, Palù G, Zanon E, Girolami A. Vianello F, et al. Among authors: girolami a. Blood Coagul Fibrinolysis. 2003 Jun;14(4):401-5. doi: 10.1097/00001721-200306000-00012. Blood Coagul Fibrinolysis. 2003. PMID: 12945883

7

A new mutation (Arg251Trp) in the Ca2+ binding site of factor X protease domain appears to be responsible for the defect in the extrinsic pathway activation of factor X Padua.

Girolami A, Vianello F, Cabrio L, Lombardi AM. Girolami A, et al. Clin Appl Thromb Hemost. 2004 Jan;10(1):5-8. doi: 10.1177/107602960401000102. Clin Appl Thromb Hemost. 2004. PMID: 14979399 Free article.

8

Congenital factor X deficiencies with a defect only or predominantly in the extrinsic or in the intrinsic system: a critical evaluation.

Girolami A, Scarparo P, Scandellari R, Allemand E. Girolami A, et al. Am J Hematol. 2008 Aug;83(8):668-71. doi: 10.1002/ajh.21207. Am J Hematol. 2008. PMID: 18506702 Free article. Review.

9

The clinical and laboratory significance of cases of congenital FX deficiency due to defects in the Gla-domain.

Girolami A, Allemand E, Scandellari R, Lombardi AM, Girolami B. Girolami A, et al. Among authors: girolami b. Hematology. 2009 Jun;14(3):177-81. doi: 10.1179/102453309X426173. Hematology. 2009. PMID: 19490765 Free article.

10

Congenital prekallikrein deficiency.

Girolami A, Scarparo P, Candeo N, Lombardi AM. Girolami A, et al. Expert Rev Hematol. 2010 Dec;3(6):685-95. doi: 10.1586/ehm.10.69. Expert Rev Hematol. 2010. PMID: 21091145 Review.

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