Acquila M - Search Results

1

A novel point mutation in severe haemophilia A: a further proof of genotype-phenotype correlation.

Borchiellini A, Bicocchi MP, Aguzzi C, Valpreda A, Valeri F, Beggiato E, Acquila M, Schinco PC. Borchiellini A, et al. Among authors: acquila m. Haemophilia. 2010 May;16(3):554-5. doi: 10.1111/j.1365-2516.2009.02153.x. Epub 2009 Dec 14. Haemophilia. 2010. PMID: 20015216 No abstract available.

2

A new strategy for prenatal diagnosis in a sporadic haemophilia B family.

Acquila M, Bottini F, Valetto A, Caprino D, Mori PG, Bicocchi MP. Acquila M, et al. Haemophilia. 2001 Jul;7(4):416-8. doi: 10.1046/j.1365-2516.2001.00514.x. Haemophilia. 2001. PMID: 11442646

3

Mutation analysis is an essential strategy in the genetic counselling of sporadic haemophilia B families.

Bicocchi MP, Pasino M, Bottini F, Lanza T, Mori PG, Acquila M. Bicocchi MP, et al. Among authors: acquila m. Haemophilia. 2002 Sep;8(5):730-2. doi: 10.1046/j.1365-2516.2002.00657_2.x. Haemophilia. 2002. PMID: 12199691 No abstract available.

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

Identification of mutations in exon 14 including five novelties in 13 Italian patients with haemophilia A.

Acquila M, Pasino M, Lanza T, Molinari AC, Caprino D, Bottini F, Bicocchi MP. Acquila M, et al. Haemophilia. 2004 Nov;10(6):744-6. doi: 10.1111/j.1365-2516.2004.01032.x. Haemophilia. 2004. PMID: 15569173 No abstract available.

6

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

7

An uncommon case of a female carrier of two distinct X-linked disorders.

Fabiano C, Acquila M, Bicocchi MP, Sammarco P. Fabiano C, et al. Among authors: acquila m. Haemophilia. 2008 May;14(3):665-6. doi: 10.1111/j.1365-2516.2008.01665.x. Epub 2008 Feb 15. Haemophilia. 2008. PMID: 18282150 No abstract available.

8

MLPA assay in F8 gene mutation screening.

Acquila M, Pasino M, Di Duca M, Bottini F, Molinari AC, Bicocchi MP. Acquila M, et al. Haemophilia. 2008 May;14(3):625-7. doi: 10.1111/j.1365-2516.2008.01659.x. Epub 2008 Feb 25. Haemophilia. 2008. PMID: 18312364 No abstract available.

9

Molecular analysis of severe factor XI deficiency in three Italian patients.

Bicocchi MP, Marotta F, Banov L, Acquila M. Bicocchi MP, et al. Among authors: acquila m. Haemophilia. 2011 Sep;17(5):e835-6. doi: 10.1111/j.1365-2516.2011.02576.x. Epub 2011 Jun 7. Haemophilia. 2011. PMID: 21649796 No abstract available.

10

Multiplex ligation-dependent probe amplification to detect a large deletion within the von Willebrand gene.

Acquila M, Bottini F, DI Duca M, Vijzelaar R, Molinari AC, Bicocchi MP. Acquila M, et al. Haemophilia. 2009 Nov;15(6):1346-8. doi: 10.1111/j.1365-2516.2009.02078.x. Epub 2009 Jul 20. Haemophilia. 2009. PMID: 19686465 No abstract available.

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