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Electroclinical findings in four patients with karyotype 47,XYY.
Brain Dev. 2011 May;33(5):384-9. doi: 10.1016/j.braindev.2010.07.010. Epub 2010 Sep 16.
Brain Dev. 2011.
PMID: 20817432
Benign myoclonic epilepsy in infancy (BMEI): a longitudinal electroclinical study of 22 cases.
Darra F, Fiorini E, Zoccante L, Mastella L, Torniero C, Cortese S, Meneghello L, Fontana E, Bernardina BD.
Darra F, et al. Among authors: torniero c.
Epilepsia. 2006;47 Suppl 5:31-5. doi: 10.1111/j.1528-1167.2006.00874.x.
Epilepsia. 2006.
PMID: 17239103
Free article.
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Scotosensitive and photosensitive myoclonic seizures in an infant with trisomy 13.
Torniero C, Zuffardi O, Darra F, Dalla Bernardina B.
Torniero C, et al.
Epilepsia. 2007 Nov;48(11):2177-80. doi: 10.1111/j.1528-1167.2007.01220.x. Epub 2007 Jul 28.
Epilepsia. 2007.
PMID: 17662064
Free article.
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Seizures and EEG pattern in the 22q13.3 deletion syndrome: clinical report of six Italian cases.
Figura MG, Coppola A, Bottitta M, Calabrese G, Grillo L, Luciano D, Del Gaudio L, Torniero C, Striano S, Elia M.
Figura MG, et al. Among authors: torniero c.
Seizure. 2014 Oct;23(9):774-9. doi: 10.1016/j.seizure.2014.06.008. Epub 2014 Jul 1.
Seizure. 2014.
PMID: 25027555
Free article.
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Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.
Torniero C, dalla Bernardina B, Novara F, Vetro A, Ricca I, Darra F, Pramparo T, Guerrini R, Zuffardi O.
Torniero C, et al.
Eur J Hum Genet. 2007 Jan;15(1):62-7. doi: 10.1038/sj.ejhg.5201730. Epub 2006 Oct 31.
Eur J Hum Genet. 2007.
PMID: 17075606
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Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.
Giorda R, Bonaglia MC, Beri S, Fichera M, Novara F, Magini P, Urquhart J, Sharkey FH, Zucca C, Grasso R, Marelli S, Castiglia L, Di Benedetto D, Musumeci SA, Vitello GA, Failla P, Reitano S, Avola E, Bisulli F, Tinuper P, Mastrangelo M, Fiocchi I, Spaccini L, Torniero C, Fontana E, Lynch SA, Clayton-Smith J, Black G, Jonveaux P, Leheup B, Seri M, Romano C, dalla Bernardina B, Zuffardi O.
Giorda R, et al. Among authors: torniero c.
Am J Hum Genet. 2009 Sep;85(3):394-400. doi: 10.1016/j.ajhg.2009.08.001. Epub 2009 Aug 27.
Am J Hum Genet. 2009.
PMID: 19716111
Free PMC article.
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE.
Sharp AJ, et al. Among authors: torniero c.
Nat Genet. 2008 Mar;40(3):322-8. doi: 10.1038/ng.93. Epub 2008 Feb 17.
Nat Genet. 2008.
PMID: 18278044
Free PMC article.
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Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.
Torniero C, Dalla Bernardina B, Novara F, Cerini R, Bonaglia C, Pramparo T, Ciccone R, Guerrini R, Zuffardi O.
Torniero C, et al.
Eur J Hum Genet. 2008 Aug;16(8):880-7. doi: 10.1038/ejhg.2008.42. Epub 2008 Mar 12.
Eur J Hum Genet. 2008.
PMID: 18337728
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