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Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.
Tassano E, Uccella S, Ronchetto P, Martinheira Da Silva JS, Viaggi S, Mancardi M, Ramenghi L, Murri A, Biondi M, Gimelli G, Morerio C, Malacarne M, Coviello D. Tassano E, et al. Among authors: malacarne m. Cytogenet Genome Res. 2022;162(3):132-139. doi: 10.1159/000525181. Epub 2022 Jul 27. Cytogenet Genome Res. 2022. PMID: 35896065
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. Among authors: malacarne m. 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: malacarne m. 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: malacarne m. 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.
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: malacarne m. 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
166 results