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181 results

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Novel epilepsy phenotype associated to a known SCN8A mutation.
Epifanio R, Zanotta N, Giorda R, Bardoni A, Zucca C. Epifanio R, et al. Among authors: giorda r. Seizure. 2019 Apr;67:15-17. doi: 10.1016/j.seizure.2019.01.017. Epub 2019 Mar 4. Seizure. 2019. PMID: 30851583 Free article. No abstract available.
Subtelomeric trisomy 21q: a new benign chromosomal variant.
Bonaglia MC, Marelli S, Gottardi G, Zucca C, Pramparo T, Giorda R, Grasso R, Borgatti R, Zuffardi O. Bonaglia MC, et al. Among authors: giorda r. Eur J Med Genet. 2007 Jan-Feb;50(1):54-9. doi: 10.1016/j.ejmg.2006.07.001. Epub 2006 Sep 10. Eur J Med Genet. 2007. PMID: 17055792
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. 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.
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.
Bonaglia MC, Marelli S, Novara F, Commodaro S, Borgatti R, Minardo G, Memo L, Mangold E, Beri S, Zucca C, Brambilla D, Molteni M, Giorda R, Weber RG, Zuffardi O. Bonaglia MC, et al. Among authors: giorda r. Eur J Hum Genet. 2010 Dec;18(12):1302-9. doi: 10.1038/ejhg.2010.115. Epub 2010 Jul 21. Eur J Hum Genet. 2010. PMID: 20648052 Free PMC article.
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O. Bonaglia MC, et al. Among authors: giorda r. PLoS Genet. 2011 Jul;7(7):e1002173. doi: 10.1371/journal.pgen.1002173. Epub 2011 Jul 14. PLoS Genet. 2011. PMID: 21779178 Free PMC article.
Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23).
Broli M, Bisulli F, Mastrangelo M, Fontana E, Fiocchi I, Zucca C, Bonaglia MC, Buono S, Musumeci SA, Romano C, Reitano S, Savio M, Vitello GA, Bernardi B, Cevolani D, Agati R, Poda R, Gallassi R, Giorda R, Zuffardi O, Bernardina BD, Seri M, Tinuper P. Broli M, et al. Among authors: giorda r. Epileptic Disord. 2011 Sep;13(3):240-51. doi: 10.1684/epd.2011.0462. Epileptic Disord. 2011. PMID: 21926047 Free article.
Pediatric biobanking: a pilot qualitative survey of practices, rules, and researcher opinions in ten European countries.
Salvaterra E, Giorda R, Bassi MT, Borgatti R, Knudsen LE, Martinuzzi A, Nobile M, Pozzoli U, Ramelli GP, Reni GL, Rivolta D, Stazi MA, Strazzer S, Thijs C, Toccaceli V, Trabacca A, Turconi AC, Zanini S, Zucca C, Bresolin N, Lenzi On Behalf Of The Pediatric Biobank Elsi Working Group L. Salvaterra E, et al. Among authors: giorda r. Biopreserv Biobank. 2012 Feb;10(1):29-36. doi: 10.1089/bio.2011.0037. Epub 2011 Dec 13. Biopreserv Biobank. 2012. PMID: 24849751
181 results