Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Rosaria Ingino"'
Autor:
Felice Amato, Mariangela Iorio, Rosaria Ingino, Francesco Salvatore, Giuseppe Castaldo, Antonella Fuccio, Rossella Tomaiuolo, Mirella Filocamo, Ausilia Elce
Publikováno v:
The Journal of Molecular Diagnostics. 13:648-656
Approximately 90% of patients with osteogenesis imperfecta (OI) exhibit dominant COL1A1 or COL1A2 mutations; however, molecular analysis is difficult because these genes span 51 and 52 exons, respectively. We devised a PCR-denaturing high-performance
Autor:
Rosaria Ingino, Giuseppe Castaldo, Veronica Sanna, Giovanni Di Minno, Federica Zarrilli, Rita Santamaria, Antonio Coppola, Angiola Rocino
Background: Haemophilia A and B (HA, HB) are the most frequent X-linked bleeding diseases; two-thirds of cases are severe. Methods: We counselled 51 couples for prenatal diagnosis (PD) of haemophilia. In 7/51 (13.7%) cases, the couple decided not to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2b3b364f511d2824e20c9e34f55ec61
http://hdl.handle.net/11588/570611
http://hdl.handle.net/11588/570611
Autor:
Anna Guida, M. N. D. Di Minno, Anna Maria Cerbone, Giuseppe Castaldo, G. Di Minno, Antonella Tufano, Antonio Ruocco, Carlo Ceglia, Rosaria Ingino, I. Tandurella
SummaryWe sequenced the SERPINC1 gene in 26 patients (11 males) with antithrombin (AT) deficiency (22 type I, 4 type II), belonging to 18 unrelated families from Southern Italy. Heterozygous mutations were identified in 15/18 (83.3%) families. Of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4df245269c8a5aae8d609ead76f8df7a
http://hdl.handle.net/11588/458055
http://hdl.handle.net/11588/458055