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Page 1
A novel MED12 mutation: Evidence for a fourth phenotype.
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.
Item in Clipboard
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.
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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.
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Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.
Prontera P, Ottaviani V, Toccaceli D, Rogaia D, Ardisia C, Romani R, Stangoni G, Pierini A, Donti E.
Prontera P, et al. Among authors: ottaviani v.
Am J Med Genet A. 2014 Dec;164A(12):3137-41. doi: 10.1002/ajmg.a.36741. Epub 2014 Sep 24.
Am J Med Genet A. 2014.
PMID: 25257502
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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
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