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Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Mazzarotto F, Girolami F, Boschi B, Barlocco F, Tomberli A, Baldini K, Coppini R, Tanini I, Bardi S, Contini E, Cecchi F, Pelo E, Cook SA, Cerbai E, Poggesi C, Torricelli F, Walsh R, Olivotto I. Mazzarotto F, et al. Among authors: pelo e. Genet Med. 2019 Feb;21(2):284-292. doi: 10.1038/s41436-018-0046-0. Epub 2018 Jun 6. Genet Med. 2019. PMID: 29875424 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: pelo e. 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
Fundus phenotype in retinitis pigmentosa associated with EYS mutations.
Mucciolo DP, Sodi A, Passerini I, Murro V, Cipollini F, Borg I, Pelo E, Contini E, Virgili G, Rizzo S. Mucciolo DP, et al. Among authors: pelo e. Ophthalmic Genet. 2018 Oct;39(5):589-602. doi: 10.1080/13816810.2018.1509351. Epub 2018 Aug 28. Ophthalmic Genet. 2018. PMID: 30153090
Expression and function of gonadotropin-releasing hormone (GnRH) receptor in human olfactory GnRH-secreting neurons: an autocrine GnRH loop underlies neuronal migration.
Romanelli RG, Barni T, Maggi M, Luconi M, Failli P, Pezzatini A, Pelo E, Torricelli F, Crescioli C, Ferruzzi P, Salerno R, Marini M, Rotella CM, Vannelli GB. Romanelli RG, et al. Among authors: pelo e. J Biol Chem. 2004 Jan 2;279(1):117-26. doi: 10.1074/jbc.M307955200. Epub 2003 Oct 16. J Biol Chem. 2004. PMID: 14565958 Free article.
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: pelo e. Amyloid. 2007 Dec;14(4):289-92. doi: 10.1080/13506120701614172. Amyloid. 2007. PMID: 17968689
A novel GRK1 mutation in an Italian patient with Oguchi disease.
Mucciolo DP, Sodi A, Murro V, Passerini I, Palchetti S, Pelo E, Virgili G, Rizzo S. Mucciolo DP, et al. Among authors: pelo e. Ophthalmic Genet. 2018 Jan-Feb;39(1):137-138. doi: 10.1080/13816810.2017.1323341. Epub 2017 May 16. Ophthalmic Genet. 2018. PMID: 28511019 No abstract available.
37 results