Girolami A - Search Results

1

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

2

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

3

Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383Trp stop codon and Cys529Tyr).

Lombardi AM, Sartori MT, Cabrio L, Fadin M, Zanon E, Girolami A. Lombardi AM, et al. Among authors: girolami a. Thromb Haemost. 2003 Dec;90(6):1040-5. doi: 10.1160/TH03-05-0275. Thromb Haemost. 2003. PMID: 14652634

4

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

5

Considerations on a tentative classification of FVII deficiency suited for practical clinical purposes.

Girolami A, Treleani M, Scarparo P, Bonamigo E, Lombardi AM. Girolami A, et al. Clin Appl Thromb Hemost. 2012 Nov;18(6):654-7. doi: 10.1177/1076029611434529. Epub 2012 Mar 12. Clin Appl Thromb Hemost. 2012. PMID: 22411998 Free article.

6

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

7

Bleeding manifestations in heterozygotes with prothrombin deficiency or abnormalities vs. unaffected family members as observed during a long follow-up study.

Girolami A, Santarossa C, Cosi E, Ferrari S, Lombardi AM, Girolami B. Girolami A, et al. Among authors: girolami b. Blood Coagul Fibrinolysis. 2017 Dec;28(8):623-626. doi: 10.1097/MBC.0000000000000648. Blood Coagul Fibrinolysis. 2017. PMID: 28665815

8

Conformation sensitive gel electrophoresis for detection of factor X gene mutations.

Vianello F, Lombardi AM, Dal Bello F, Zanon E, Cabrio L, Girolami A. Vianello F, et al. Among authors: girolami a. Thromb Res. 2002 Jul 15;107(1-2):51-4. doi: 10.1016/s0049-3848(02)00178-0. Thromb Res. 2002. PMID: 12413589

9

Comparable levels of activity and antigen in factor XII deficiency: a study of 21 homozygotes and 58 heterozygotes.

Girolami A, Gavasso S, Pacquola E, Cabrio L, Lombardi AM, Girolami B. Girolami A, et al. Among authors: girolami b. Clin Appl Thromb Hemost. 2005 Jul;11(3):335-8. doi: 10.1177/107602960501100313. Clin Appl Thromb Hemost. 2005. PMID: 16015420 Free article.

10

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.

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