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Year Number of Results
2012 1
2014 2
2015 1
2016 1
2017 1
2021 0
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6 results
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Page 1
A novel MED12 mutation: Evidence for a fourth phenotype.
Prontera P, Ottaviani V, Rogaia D, Isidori I, Mencarelli A, Malerba N, Cocciadiferro D, Rolph P, Stangoni G, Vulto-van Silfhout A, Merla G. Prontera P, et al. Among authors: ottaviani v. Am J Med Genet A. 2016 Sep;170(9):2377-82. doi: 10.1002/ajmg.a.37805. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27312080 Review.
Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.
Prontera P, Rogaia D, Mencarelli A, Ottaviani V, Sallicandro E, Guercini G, Esposito S, Bersano A, Merla G, Stangoni G. Prontera P, et al. Among authors: ottaviani v. Int J Mol Sci. 2017 Sep 17;18(9):1998. doi: 10.3390/ijms18091998. Int J Mol Sci. 2017. PMID: 28926972 Free PMC article. Review.
Xq12-q13.3 duplication: evidence of a recurrent syndrome.
Prontera P, Ottaviani V, Isidori I, Stangoni G, Donti E. Prontera P, et al. Among authors: ottaviani v. Ann Neurol. 2012 Nov;72(5):821-2; author reply 822-3. doi: 10.1002/ana.23754. Ann Neurol. 2012. PMID: 23280798 No abstract available.
DPP6 gene disruption in a family with Gilles de la Tourette syndrome.
Prontera P, Napolioni V, Ottaviani V, Rogaia D, Fusco C, Augello B, Serino D, Parisi V, Bernardini L, Merla G, Cavanna AE, Donti E. Prontera P, et al. Among authors: ottaviani v. Neurogenetics. 2014 Oct;15(4):237-42. doi: 10.1007/s10048-014-0418-9. Epub 2014 Aug 17. Neurogenetics. 2014. PMID: 25129042
2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment.
Funnell AP, Prontera P, Ottaviani V, Piccione M, Giambona A, Maggio A, Ciaffoni F, Stehling-Sun S, Marra M, Masiello F, Varricchio L, Stamatoyannopoulos JA, Migliaccio AR, Papayannopoulou T. Funnell AP, et al. Among authors: ottaviani v. Blood. 2015 Jul 2;126(1):89-93. doi: 10.1182/blood-2015-04-638528. Epub 2015 May 27. Blood. 2015. PMID: 26019277 Free PMC article.