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Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW. Lionel AC, et al. Among authors: antona v. Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669. Epub 2013 Dec 30. Hum Mol Genet. 2014. PMID: 24381304 Free PMC article.
Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.
Corsello G, Salzano E, Vecchio D, Antona V, Grasso M, Malacarne M, Carella M, Palumbo P, Piro E, Giuffrè M. Corsello G, et al. Among authors: antona v. Am J Med Genet A. 2015 Dec;167A(12):3130-8. doi: 10.1002/ajmg.a.37293. Epub 2015 Sep 3. Am J Med Genet A. 2015. PMID: 26333487
10qter deletion: a new case.
Piccione M, Antona V, Piro E, Cavani S, Malacarne M, Pierluigi M, Corsello G. Piccione M, et al. Among authors: antona v. Am J Med Genet A. 2008 Sep 15;146A(18):2435-8. doi: 10.1002/ajmg.a.32467. Am J Med Genet A. 2008. PMID: 18698621 No abstract available.
Array CGH defined interstitial deletion on chromosome 14: a new case.
Piccione M, Antona V, Scavone V, Malacarne M, Pierluigi M, Grasso M, Corsello G. Piccione M, et al. Among authors: antona v. Eur J Pediatr. 2010 Jul;169(7):845-51. doi: 10.1007/s00431-009-1128-4. Epub 2010 Jan 21. Eur J Pediatr. 2010. PMID: 20087602
56 results