Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B
BICOCCHI, M. P., PASINO, M., ROSANO, C., MOLINARI, A. C., VALLE, E. DELLA, LANZA, T., BOTTINI, F., ACQUILA, M.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2006)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2006)
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Journal Article
Prenatal diagnosis of haemophilia B: the Italian experience
Belvini, D., Salviato, R., Acquila, M., Bicocchi, M. P., Frusconi, S., Garagiola, I., Sanna, V., Santacroce, R., Rocino, A., Tagariello, G.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.11.2013)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.11.2013)
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Journal Article
Identification of mutations in exon 14 including five novelties in 13 Italian patients with haemophilia A
Acquila, M., Pasino, M., Lanza, T., Molinari, A. C., Caprino, D., Bottini, F., Bicocchi, M. P.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.11.2004)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.11.2004)
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Journal Article
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, A. C., BICOCCHI, M. P.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.11.2009)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.11.2009)
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Journal Article
MLPA assay in F8 gene mutation screening
ACQUILA, M., PASINO, M., DI DUCA, M., BOTTINI, F., MOLINARI, A. C., BICOCCHI, M. P.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2008)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2008)
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Journal Article
Mutation analysis is an essential strategy in the genetic counselling of sporadic haemophilia B families
Bicocchi, M. P., Pasino, M., Bottini, F., Lanza, T., Mori, P. G., Acquila, M.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.09.2002)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.09.2002)
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A novel point mutation in severe haemophilia A: a further proof of genotype-phenotype correlation
BORCHIELLINI, A., BICOCCHI, M. P., AGUZZI, C., VALPREDA, A., VALERI, F., BEGGIATO, E., ACQUILA, M., SCHINCO, P. C.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2010)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2010)
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Journal Article
A rapid prenatal diagnosis of hemophilia A by DNA analysis on crude chorionic villus biopsy
Acquila, M, Bicocchi, M P, Bottini, F, Caprino, D, Bonifacino, O, Mori, P G
Published in Haematologica (Roma) (01.04.1999)
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Published in Haematologica (Roma) (01.04.1999)
Journal Article
More on the relationship between cystic fibrosis and venous thrombosis
Mori, P G, Acquila, M, Bicocchi, M P, Bottini, F, Romano, L
Published in European journal of haematology (01.07.2000)
Published in European journal of haematology (01.07.2000)
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Journal Article
Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection
Puliti, A, Covone, A E, Bicocchi, M P, Bolino, A, Lerone, M, Martucciello, G, Jasonni, V, Romeo, G
Published in Cytogenetics and cell genetics (1993)
Published in Cytogenetics and cell genetics (1993)
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Inversion mutation as a major cause of severe hemophilia A in Italian patients
Mori, PG, Caprino, D, Bicocchi, MP, Valetto, A, Bottini, F, Aquila, M
Published in Haematologica (Roma) (01.01.1997)
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Published in Haematologica (Roma) (01.01.1997)
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Conference Proceeding
Fine mapping and cloning of the breakpoint associated with menkes syndrome in a female patient
Consalez, G. Giacomo, Gecz, Joseph, Stayton, Carol L., Dabovic, Branka, Pasini, Barbara, Pezzolo, Annalisa, Bicocchi, M. Patrizia, Fontes, Michel, Romeo, Giovanni
Published in Genomics (San Diego, Calif.) (01.11.1992)
Published in Genomics (San Diego, Calif.) (01.11.1992)
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Journal Article
Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease
Luo, Y, Ceccherini, I, Pasini, B, Matera, I, Bicocchi, M P, Barone, V, Bocciardi, R, Kääriäinen, H, Weber, D, Devoto, M
Published in Human molecular genetics (01.11.1993)
Published in Human molecular genetics (01.11.1993)
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De novo (15;21) unbalanced translocation of paternal origin in a girl with Prader-Willi syndrome
Cuoco, C, Bicocchi, M P, Granata, D, Mezzano, P, Serra, G
Published in American journal of medical genetics (01.09.1990)
Published in American journal of medical genetics (01.09.1990)
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