Malcovati M - Search Results

1

The DNA-pooling technique allowed for the identification of three novel mutations responsible for afibrinogenemia.

Monaldini L, Asselta R, Malcovati M, Tenchini ML, Duga S. Monaldini L, et al. Among authors: malcovati m. J Thromb Haemost. 2005 Nov;3(11):2591-3. doi: 10.1111/j.1538-7836.2005.01613.x. J Thromb Haemost. 2005. PMID: 16241964 Free article. No abstract available.

2

Mutational screening of six afibrinogenemic patients: identification and characterization of four novel molecular defects.

Monaldini L, Asselta R, Duga S, Peyvandi F, Karimi M, Malcovati M, Tenchini ML. Monaldini L, et al. Among authors: malcovati m. Thromb Haemost. 2007 Apr;97(4):546-51. Thromb Haemost. 2007. PMID: 17393016

3

Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter.

Asselta R, Duga S, Modugno M, Malcovati M, Tenchini ML. Asselta R, et al. Among authors: malcovati m. Thromb Haemost. 1998 Jun;79(6):1144-50. Thromb Haemost. 1998. PMID: 9657439 Free article.

4

Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion.

Duga S, Asselta R, Santagostino E, Zeinali S, Simonic T, Malcovati M, Mannucci PM, Tenchini ML. Duga S, et al. Among authors: malcovati m. Blood. 2000 Feb 15;95(4):1336-41. Blood. 2000. PMID: 10666208 Free article.

5

Identification of four novel polymorphisms in the Aalpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein.

Menegatti M, Asselta R, Duga S, Malcovati M, Bucciarelli P, Mannucci PM, Tenchini ML. Menegatti M, et al. Among authors: malcovati m. Thromb Res. 2001 Aug 15;103(4):299-307. doi: 10.1016/s0049-3848(01)00329-2. Thromb Res. 2001. PMID: 11562340

6

Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain.

Asselta R, Montefusco MC, Duga S, Malcovati M, Peyvandi F, Mannucci PM, Tenchini ML. Asselta R, et al. Among authors: malcovati m. J Thromb Haemost. 2003 Jun;1(6):1237-44. doi: 10.1046/j.1538-7836.2003.00160.x. J Thromb Haemost. 2003. PMID: 12871325 Free article.

7

Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen vs. the ERSD-associated gamma-G284R mutant.

Duga S, Braidotti P, Asselta R, Maggioni M, Santagostino E, Pellegrini C, Coggi G, Malcovati M, Tenchini ML. Duga S, et al. Among authors: malcovati m. J Thromb Haemost. 2005 Apr;3(4):724-32. doi: 10.1111/j.1538-7836.2005.01229.x. J Thromb Haemost. 2005. PMID: 15842357 Free article.

8

Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia.

Asselta R, Spena S, Duga S, Peyvandi F, Malcovati M, Mannucci PM, Tenchini ML. Asselta R, et al. Among authors: malcovati m. Haematologica. 2002 Aug;87(8):855-9. Haematologica. 2002. PMID: 12161363

9

Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites.

Spena S, Duga S, Asselta R, Malcovati M, Peyvandi F, Tenchini ML. Spena S, et al. Among authors: malcovati m. Blood. 2002 Dec 15;100(13):4478-84. doi: 10.1182/blood-2002-06-1647. Epub 2002 Aug 1. Blood. 2002. PMID: 12393540 Free article.

10

Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation.

Asselta R, Duga S, Simonic T, Malcovati M, Santagostino E, Giangrande PL, Mannucci PM, Tenchini ML. Asselta R, et al. Among authors: malcovati m. Blood. 2000 Oct 1;96(7):2496-500. Blood. 2000. PMID: 11001902 Free article.

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