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Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, Elia M, Falace A, Gazzerro E, Ferlazzo E, Freri E, Galasso R, Gobbi G, Molinatto C, Cavani S, Zuffardi O, Striano S, Ferrero GB, Silengo M, Cavaliere ML, Benelli M, Magi A, Piccione M, Dagna Bricarelli F, Coviello DA, Fichera M, Minetti C, Zara F. Striano P, et al. Arch Neurol. 2012 Mar;69(3):322-30. doi: 10.1001/archneurol.2011.1999. Epub 2011 Nov 14. Arch Neurol. 2012. PMID: 22083797 Free article. Review.
19q13 microdeletion syndrome: Further refining the critical region.
Forzano F, Napoli F, Uliana V, Malacarne M, Viaggi C, Bloise R, Coviello D, Di Maria E, Olivieri I, Di Iorgi N, Faravelli F. Forzano F, et al. Among authors: coviello d. Eur J Med Genet. 2012 Jun;55(6-7):429-32. doi: 10.1016/j.ejmg.2012.03.002. Epub 2012 Apr 10. Eur J Med Genet. 2012. PMID: 22510526
3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?
Mandrile G, Dubois A, Hoffman JD, Uliana V, Di Maria E, Malacarne M, Coviello D, Faravelli F, Zwolinski S, Hellens S, Wright M, Forzano F. Mandrile G, et al. Among authors: coviello d. Eur J Med Genet. 2013 Apr;56(4):216-21. doi: 10.1016/j.ejmg.2013.01.005. Epub 2013 Jan 26. Eur J Med Genet. 2013. PMID: 23357683 Free article.
First-trimester euploid miscarriages analysed by array-CGH.
Viaggi CD, Cavani S, Malacarne M, Floriddia F, Zerega G, Baldo C, Mogni M, Castagnetta M, Piombo G, Coviello DA, Camandona F, Lijoi D, Insegno W, Traversa M, Pierluigi M. Viaggi CD, et al. Among authors: coviello da. J Appl Genet. 2013 Aug;54(3):353-9. doi: 10.1007/s13353-013-0157-x. Epub 2013 Jun 19. J Appl Genet. 2013. PMID: 23780398
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Catusi I, Recalcati MP, Bestetti I, Garzo M, Valtorta C, Alfonsi M, Alghisi A, Cappellani S, Casalone R, Caselli R, Ceccarini C, Ceglia C, Ciaschini AM, Coviello D, Crosti F, D'Aprile A, Fabretto A, Genesio R, Giagnacovo M, Granata P, Longo I, Malacarne M, Marseglia G, Montaldi A, Nardone AM, Palka C, Pecile V, Pessina C, Postorivo D, Redaelli S, Renieri A, Rigon C, Tiberi F, Tonelli M, Villa N, Zilio A, Zuccarello D, Novelli A, Larizza L, Giardino D. Catusi I, et al. Among authors: d aprile a, coviello d. Mol Genet Genomic Med. 2020 Jan;8(1):e1056. doi: 10.1002/mgg3.1056. Epub 2019 Dec 18. Mol Genet Genomic Med. 2020. PMID: 31851782 Free PMC article.
1p31.1 microdeletion including only NEGR1 gene in two patients.
Tassano E, Uccella S, Giacomini T, Fiorio P, Tavella E, Malacarne M, Gimelli G, Coviello D, Ronchetto P. Tassano E, et al. Among authors: coviello d. Eur J Med Genet. 2020 Jun;63(6):103919. doi: 10.1016/j.ejmg.2020.103919. Epub 2020 Mar 21. Eur J Med Genet. 2020. PMID: 32209393
17q23.3 de novo microdeletion involving only TANC2 gene: A new case.
Tassano E, Accogli A, Ronchetto P, Tortora D, Tavella E, Gimelli G, Mancardi M, Malacarne M, Coviello DA. Tassano E, et al. Among authors: coviello da. Eur J Med Genet. 2020 Dec;63(12):104094. doi: 10.1016/j.ejmg.2020.104094. Epub 2020 Nov 4. Eur J Med Genet. 2020. PMID: 33160097
241 results