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Methimazole embryopathy: delineation of the phenotype.
Clementi M, Di Gianantonio E, Pelo E, Mammi I, Basile RT, Tenconi R. Clementi M, et al. Among authors: pelo e. Am J Med Genet. 1999 Mar 5;83(1):43-6. Am J Med Genet. 1999. PMID: 10076883 Review.
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
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
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.
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
En face OCT in choroideremia.
Murro V, Mucciolo DP, Sodi A, Giorgio D, Passerini I, Pelo E, Virgili G, Rizzo S. Murro V, et al. Among authors: pelo e. Ophthalmic Genet. 2019 Dec;40(6):514-520. doi: 10.1080/13816810.2019.1711429. Epub 2020 Jan 13. Ophthalmic Genet. 2019. PMID: 31928275
36 results