Acquila M - Search Results

1

Analysis of 18 novel mutations in the factor VIII gene.

Bicocchi MP, Pasino M, Lanza T, Bottini F, Boeri E, Mori PG, Molinari AC, Rosano C, Acquila M. Bicocchi MP, et al. Among authors: acquila m. Br J Haematol. 2003 Sep;122(5):810-7. doi: 10.1046/j.1365-2141.2003.04494.x. Br J Haematol. 2003. PMID: 12930394 Free article.

2

Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations.

Bicocchi MP, Pasino M, Lanza T, Bottini F, Molinari AC, Caprino D, Rosano C, Acquila M. Bicocchi MP, et al. Among authors: acquila m. Am J Hematol. 2005 Feb;78(2):117-22. doi: 10.1002/ajh.20234. Am J Hematol. 2005. PMID: 15682412 Free article.

3

Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A.

Bicocchi MP, Migeon BR, Pasino M, Lanza T, Bottini F, Boeri E, Molinari AC, Corsolini F, Morerio C, Acquila M. Bicocchi MP, et al. Among authors: acquila m. Eur J Hum Genet. 2005 May;13(5):635-40. doi: 10.1038/sj.ejhg.5201386. Eur J Hum Genet. 2005. PMID: 15741993

4

Germ-line origin of intron 1 inversion in two haemophilia A families.

Acquila M, Pasino M, Santoro C, Lanza T, Molinari AC, Bottini F, Bicocchi MP. Acquila M, et al. Haemophilia. 2003 Nov;9(6):717-20. doi: 10.1046/j.1351-8216.2003.00818.x. Haemophilia. 2003. PMID: 14750938

5

Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B.

Bicocchi MP, Pasino M, Rosano C, Molinari AC, Della Valle E, Lanza T, Bottini F, Acquila M. Bicocchi MP, et al. Among authors: acquila m. Haemophilia. 2006 May;12(3):263-70. doi: 10.1111/j.1365-2516.2006.01275.x. Haemophilia. 2006. PMID: 16643212

6

Mutation analysis impact on the genetic counseling of sporadic hemophilia B families.

Bicocchi MP, Pasino M, Bottini F, Lanza T, Mori PG, Acquila M. Bicocchi MP, et al. Among authors: acquila m. Am J Med Genet A. 2003 May 1;118A(4):328-31. doi: 10.1002/ajmg.a.20016. Am J Med Genet A. 2003. PMID: 12687663

7

Frequency of factor VIII intron 1 inversion in a cohort of severe hemophilia A Italian patients.

Acquila M, Pasino M, Lanza T, Bottini F, Boeri E, Bicocchi MP. Acquila M, et al. Haematologica. 2003 May;88(5):ELT17. Haematologica. 2003. PMID: 12745291 No abstract available.

8

Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy.

Acquila M, Pasino M, Lanza T, Bottini F, Molinari AC, Bicocchi MP. Acquila M, et al. Haematologica. 2004 Jun;89(6):758-9. Haematologica. 2004. PMID: 15194549

9

Ectopic mRNA analysis and molecular modelling substantiate severe haemophilia in a patient with a FVIII gene splice mutation.

Bicocchi MP, Pasino M, Lanza T, Bottini F, Molinari AC, Rosano C, Acquila M. Bicocchi MP, et al. Among authors: acquila m. Thromb Haemost. 2005 Feb;93(2):391-2. Thromb Haemost. 2005. PMID: 15711765 No abstract available.

10

Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication.

Acquila M, Pasino M, Lanza T, Molinari AC, Rosano C, Bicocchi MP. Acquila M, et al. Haematologica. 2005 Jul;90(7):997-9. Haematologica. 2005. PMID: 15996947

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