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The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype.
Margaglione M, Castaman G, Morfini M, Rocino A, Santagostino E, Tagariello G, Tagliaferri AR, Zanon E, Bicocchi MP, Castaldo G, Peyvandi F, Santacroce R, Torricelli F, Grandone E, Mannucci PM; AICE-Genetics Study Group. Margaglione M, et al. Among authors: torricelli f. Haematologica. 2008 May;93(5):722-8. doi: 10.3324/haematol.12427. Epub 2008 Apr 2. Haematologica. 2008. PMID: 18387975 Free article.
Identification of seven novel mutations of F8C by DHPLC.
Frusconi S, Passerini I, Girolami F, Masieri M, Linari S, Longo G, Morfini M, Torricelli F. Frusconi S, et al. Among authors: torricelli f. Hum Mutat. 2002 Sep;20(3):231-2. doi: 10.1002/humu.9052. Hum Mutat. 2002. PMID: 12203998
Familial AL-amyloidosis in three Italian siblings.
Miliani A, Bergesio F, Salvadori M, Amantini A, Macucci M, Arbustini E, Becucci A, Sodi A, Zuccarini S, Menicucci A, Torricelli F, Capobianco T, Di Lollo S, Piazza E, Gemmi F, Cozzolino F, Merlini G. Miliani A, et al. Among authors: torricelli f. Haematologica. 1996 Mar-Apr;81(2):105-9. Haematologica. 1996. PMID: 8641636
A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.
Girolami F, Olivotto I, Passerini I, Zachara E, Nistri S, Re F, Fantini S, Baldini K, Torricelli F, Cecchi F. Girolami F, et al. Among authors: torricelli f. J Cardiovasc Med (Hagerstown). 2006 Aug;7(8):601-7. doi: 10.2459/01.JCM.0000237908.26377.d6. J Cardiovasc Med (Hagerstown). 2006. PMID: 16858239
Genetic epidemiology of Paget's disease of bone in italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of bone.
Falchetti A, Di Stefano M, Marini F, Ortolani S, Ulivieri MF, Bergui S, Masi L, Cepollaro C, Benucci M, Di Munno O, Rossini M, Adami S, Del Puente A, Isaia G, Torricelli F, Brandi ML; GenePage Project. Falchetti A, et al. Among authors: torricelli f. Calcif Tissue Int. 2009 Jan;84(1):20-37. doi: 10.1007/s00223-008-9192-8. Epub 2008 Dec 9. Calcif Tissue Int. 2009. PMID: 19067022
340 results