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Page 1
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: contini e. Ophthalmic Genet. 2018 Oct;39(5):589-602. doi: 10.1080/13816810.2018.1509351. Epub 2018 Aug 28. Ophthalmic Genet. 2018. PMID: 30153090
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: contini 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: contini 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
Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.
Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, Benelli M, Natali A, Colpi GM, Ruiz-Castañé E, Maggi M, Baarends WM, Krausz C. Riera-Escamilla A, et al. Among authors: contini e. Hum Reprod. 2019 Jun 4;34(6):978-988. doi: 10.1093/humrep/dez042. Hum Reprod. 2019. PMID: 31125047
Mutated ASXL1 and number of somatic mutations as possible indicators of progression to chronic myelomonocytic leukemia of myelodysplastic syndromes with single or multilineage dysplasia.
Valencia-Martinez A, Sanna A, Masala E, Contini E, Brogi A, Gozzini A, Santini V. Valencia-Martinez A, et al. Among authors: contini e. Haematologica. 2017 Sep;102(9):e332-e335. doi: 10.3324/haematol.2017.166124. Epub 2017 May 18. Haematologica. 2017. PMID: 28522578 Free PMC article. No abstract available.
Mutation landscape in patients with myelofibrosis receiving ruxolitinib or hydroxyurea.
Pacilli A, Rotunno G, Mannarelli C, Fanelli T, Pancrazzi A, Contini E, Mannelli F, Gesullo F, Bartalucci N, Fattori GC, Paoli C, Vannucchi AM, Guglielmelli P. Pacilli A, et al. Among authors: contini e. Blood Cancer J. 2018 Nov 22;8(12):122. doi: 10.1038/s41408-018-0152-x. Blood Cancer J. 2018. PMID: 30467377 Free PMC article.
Characteristics and clinical correlates of NFE2 mutations in chronic Myeloproliferative neoplasms.
Guglielmelli P, Pacilli A, Coltro G, Mannelli F, Mannelli L, Contini E, Rotunno G, Bartalucci N, Fiaccabrino S, Sordi B, Loscocco GG, Paoli C, Vannucchi AM. Guglielmelli P, et al. Among authors: contini e. Am J Hematol. 2020 Jan;95(1):E23-E26. doi: 10.1002/ajh.25668. Epub 2019 Nov 12. Am J Hematol. 2020. PMID: 31659782 Free article. No abstract available.
38 results