Zobrazeno 1 - 10
of 120
pro vyhledávání: '"M. Acquila"'
Autor:
Sara Signa, D. Bleidl, M Acquila, G. Viglizzo, S Viola, Angela Rita Sementa, Elio Castagnola, Francesca Manunza, Maria C Coccia, Angelo Ravelli, Stefano Volpi, Claudia Pastorino, Corrado Occella
Publikováno v:
Journal of the European Academy of Dermatology and Venereology
Between March and April 2020, after the onset of the first wave of the COVID-19 pandemic, a cluster of acral chilblain-like lesions (ACBLL) was observed in young subjects. Despite efforts to substantiate the correlation of ACBLL with SARS-CoV-2 infec
Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B
Autor:
E. Della Valle, Maria Patrizia Bicocchi, M. Acquila, Camillo Rosano, Angelo Claudio Molinari, F. Bottini, Tiziana Lanza, Mirrela Pasino
Publikováno v:
Haemophilia. 12:263-270
Summary. Deficiency or dysfunction of factor IX FIX leads to haemophilia B (HB), an X-linked, recessive, bleeding disorder. On a molecular basis, HB is due to a heterogeneous spectrum of mutations spread throughout the F9 gene. In several instances,
Autor:
M. Acquila, Mirella Pasino, F. Bottini, Tiziana Lanza, Maria Patrizia Bicocchi, Cristina Santoro, Angelo Claudio Molinari
Publikováno v:
Haemophilia. 9:717-720
Summary. Factor VIII gene inversion of intron 1 has recently been reported to be the mutation responsible for haemophilia A in about 5% of severe cases. In our series of patients, which is made up of 77 Italian cases negative for intron 22 inversion,
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Autor:
Maria Patrizia Bicocchi, Angelo Claudio Molinari, Raymon Vijzelaar, M. Di Duca, M. Acquila, F. Bottini
Publikováno v:
Haemophilia. 15:1346-1348
Autor:
Mirella Pasino, Angelo Claudio Molinari, M. Acquila, M. Di Duca, F. Bottini, Maria Patrizia Bicocchi
Publikováno v:
Haemophilia. 14:625-627
Autor:
Maria Patrizia Bicocchi, R. Santacroce, Donata Belvini, V. Sanna, Angiola Rocino, Isabella Garagiola, S. Frusconi, M. Acquila, Roberta Salviato, G. Tagariello
Publikováno v:
Haemophilia : the official journal of the World Federation of Hemophilia. 19(6)
Summary This article describes prenatal diagnosis (PND) of haemophilia B (HB) within the framework of Italian haemophilia centres and genetics laboratories. The study details the experience from six haemophilia genetic centres (three in the North, on
Autor:
M. Acquila, Caprino D, Mirella Pasino, F. Bottini, Angelo Claudio Molinari, Maria Patrizia Bicocchi, Tiziana Lanza
Publikováno v:
Haemophilia. 10:744-746
Publikováno v:
Thrombosis and Haemostasis. 71:428-433
SummaryA novel CRM+ mutation, factor VIII position 373 serine to leucine substitution (FVIII 373-Leu) was identified during a survey of Factor VIII (FVIII) mutations. We have purified the variant protein from the patient's plasma in order to allow fu
Publikováno v:
Haemophilia. 8:730-732