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Page 1
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. Hum Mutat. 2002 Sep;20(3):231-2. doi: 10.1002/humu.9052. Hum Mutat. 2002. PMID: 12203998
A new ATTR Phe64Ile mutation with late-onset multiorgan involvement.
Tarquini R, Perfetto F, Bergesio F, Miliani A, Del Pace S, Frusconi S, Minuti B, Pelo E, Torricelli F. Tarquini R, et al. Among authors: frusconi s. Amyloid. 2007 Dec;14(4):289-92. doi: 10.1080/13506120701614172. Amyloid. 2007. PMID: 17968689
A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.
Contini E, Paganini I, Sestini R, Candita L, Capone GL, Barbetti L, Falconi S, Frusconi S, Giotti I, Giuliani C, Torricelli F, Benelli M, Papi L. Contini E, et al. Among authors: frusconi s. PLoS One. 2015 Jun 12;10(6):e0129099. doi: 10.1371/journal.pone.0129099. eCollection 2015. PLoS One. 2015. PMID: 26066488 Free PMC article.
Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.
Gerundino F, Giachini C, Contini E, Benelli M, Marseglia G, Giuliani C, Marin F, Nannetti G, Lisi E, Sbernini F, Periti E, Cordisco A, Colosi E, D'ambrosio V, Mazzi M, Rossi M, Staderini L, Minuti B, Pelo E, Cicatiello R, Maruotti GM, Sglavo G, Conti A, Frusconi S, Pescucci C, Torricelli F. Gerundino F, et al. Among authors: frusconi s. J Matern Fetal Neonatal Med. 2017 Mar;30(6):710-716. doi: 10.1080/14767058.2016.1183633. Epub 2016 May 26. J Matern Fetal Neonatal Med. 2017. PMID: 27226231 Free article.
The Val142Ile transthyretin cardiac amyloidosis: more than an Afro-American pathogenic variant.
Perfetto F, Frusconi S, Bergesio F, Grifoni E, Fabbri A, Giuliani C, Falconi S, Bonifacio S, Cappelli F. Perfetto F, et al. Among authors: frusconi s. J Community Hosp Intern Med Perspect. 2015 Apr 1;5(2):26931. doi: 10.3402/jchimp.v5.26931. eCollection 2015. J Community Hosp Intern Med Perspect. 2015. PMID: 25846356 Free PMC article. No abstract available.
22 results