Zobrazeno 1 - 10
of 18
pro vyhledávání: '"M P Bicocchi"'
Publikováno v:
Haemophilia.
Publikováno v:
Haemophilia. 7:416-418
Although the quality of life for haemophiliacs has clearly improved in the last few years, haemophilia still remains a serious disorder justifying prenatal diagnosis (PD) and, if necessary, termination. Because chorionic villus sampling (CVS) is perf
Autor:
C. Aguzzi, M. Acquila, M. P. Bicocchi, Piercarla Schinco, E. Beggiato, Alessandra Borchiellini, F. Valeri, A. Valpreda
Publikováno v:
Haemophilia.
Publikováno v:
Prenatal Diagnosis. 10:533-538
The index patient is a female fetus in which prenatal diagnosis of 8p trisomy was established after amniocentesis at 16 weeks of gestation. This fetus was the unbalanced product of a maternal translocation of 5q/8p (karyotype: 46,XX,t(5;8)(q35;p11).
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, the muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::89560970147b362a7ed45ced8caeb4bc
http://hdl.handle.net/11573/986878
http://hdl.handle.net/11573/986878
Publikováno v:
Haemophilia : the official journal of the World Federation of Hemophilia. 8(5)
Publikováno v:
British Journal of Cancer
Rapid tumour progression in neuroblastoma is associated with MYCN amplification, deletion of the short arm of chromosome 1 and gain of 17q. However, patients with advanced disease without MYCN amplification and/or 1p deletion have a very poor outcome
Publikováno v:
Haematologica. 82(1)
We investigated the presence of a recombinant event between the F8A gene located in intron 22 of the factor VIII gene and the two additional copies of F8A lying 500 Kb upstream of FVIII in severe hemophilic patients. The genomic DNA of 146 unrelated
Autor:
G. Martucciello, Margherita Lerone, Vincenzo Jasonni, Aldamaria Puliti, Giovanni Romeo, M. P. Bicocchi, A. Bolino, A. E. Covone
Publikováno v:
Scopus-Elsevier
Europe PubMed Central
Europe PubMed Central
A cytogenetically detectable deletion, del(10) (q11.2→q21.2), was observed in a patient with total colonic aganglionosis with small bowel involvement (TCSA), a variant of Hirschsprung disease (HSCR). A similar deletion is present in another TCSA pa
Publikováno v:
European Journal of Haematology. 65:80-81