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A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.
Biamino E, Di Gregorio E, Belligni EF, Keller R, Riberi E, Gandione M, Calcia A, Mancini C, Giorgio E, Cavalieri S, Pappi P, Talarico F, Fea AM, De Rubeis S, Cirillo Silengo M, Ferrero GB, Brusco A. Biamino E, et al. Among authors: di gregorio e. Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):290-9. doi: 10.1002/ajmg.b.32406. Epub 2015 Dec 1. Am J Med Genet B Neuropsychiatr Genet. 2016. PMID: 26620927 Free article.
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.
Brussino A, Vaula G, Cagnoli C, Mauro A, Pradotto L, Daniele D, Di Gregorio E, Barberis M, Arduino C, Squadrone S, Abete MC, Migone N, Calabrese O, Brusco A. Brussino A, et al. Among authors: di gregorio e. J Neurol Neurosurg Psychiatry. 2009 Feb;80(2):237-40. doi: 10.1136/jnnp.2008.147330. J Neurol Neurosurg Psychiatry. 2009. PMID: 19151023 Free article.
Mutations in the lamin B1 gene are not present in multiple sclerosis.
Brussino A, D'Alfonso S, Cagnoli C, Di Gregorio E, Barberis M, Padovan S, Vaula G, Pinessi L, Squadrone S, Abete MC, Collimedaglia L, Guerini FR, Migone N, Brusco A. Brussino A, et al. Among authors: di gregorio e. Eur J Neurol. 2009 Apr;16(4):544-6. doi: 10.1111/j.1468-1331.2009.02536.x. Eur J Neurol. 2009. PMID: 19348623
De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype.
Cirillo E, Romano R, Romano A, Giardino G, Durandy A, Nitsch L, Genesio R, Di Gregorio E, Cavalieri S, Abate G, Del Vecchio L, Brusco A, Pignata C. Cirillo E, et al. Among authors: di gregorio e. Am J Med Genet A. 2012 Oct;158A(10):2571-6. doi: 10.1002/ajmg.a.35556. Epub 2012 Aug 17. Am J Med Genet A. 2012. PMID: 22903806 Free article.
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Giorgio E, et al. Among authors: di gregorio e. Hum Mutat. 2013 Aug;34(8):1160-71. doi: 10.1002/humu.22348. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23649844 Free PMC article.
111 results