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Page 1
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. Musio A, et al. Among authors: focarelli ml. Nat Genet. 2006 May;38(5):528-30. doi: 10.1038/ng1779. Epub 2006 Apr 9. Nat Genet. 2006. PMID: 16604071
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
Revenkova E, Focarelli ML, Susani L, Paulis M, Bassi MT, Mannini L, Frattini A, Delia D, Krantz I, Vezzoni P, Jessberger R, Musio A. Revenkova E, et al. Among authors: focarelli ml. Hum Mol Genet. 2009 Feb 1;18(3):418-27. doi: 10.1093/hmg/ddn369. Epub 2008 Nov 7. Hum Mol Genet. 2009. PMID: 18996922 Free PMC article.
SMC1 involvement in fragile site expression.
Musio A, Montagna C, Mariani T, Tilenni M, Focarelli ML, Brait L, Indino E, Benedetti PA, Chessa L, Albertini A, Ried T, Vezzoni P. Musio A, et al. Among authors: focarelli ml. Hum Mol Genet. 2005 Feb 15;14(4):525-33. doi: 10.1093/hmg/ddi049. Epub 2005 Jan 7. Hum Mol Genet. 2005. PMID: 15640246
Claspin inhibition leads to fragile site expression.
Focarelli ML, Soza S, Mannini L, Paulis M, Montecucco A, Musio A. Focarelli ML, et al. Genes Chromosomes Cancer. 2009 Dec;48(12):1083-90. doi: 10.1002/gcc.20710. Genes Chromosomes Cancer. 2009. PMID: 19760606
Chromosome transplantation as a novel approach for correcting complex genomic disorders.
Paulis M, Castelli A, Susani L, Lizier M, Lagutina I, Focarelli ML, Recordati C, Uva P, Faggioli F, Neri T, Scanziani E, Galli C, Lucchini F, Villa A, Vezzoni P. Paulis M, et al. Among authors: focarelli ml. Oncotarget. 2015 Nov 3;6(34):35218-30. doi: 10.18632/oncotarget.6143. Oncotarget. 2015. PMID: 26485770 Free PMC article.
Targeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional Osteoclasts.
Neri T, Muggeo S, Paulis M, Caldana ME, Crisafulli L, Strina D, Focarelli ML, Faggioli F, Recordati C, Scaramuzza S, Scanziani E, Mantero S, Buracchi C, Sobacchi C, Lombardo A, Naldini L, Vezzoni P, Villa A, Ficara F. Neri T, et al. Among authors: focarelli ml. Stem Cell Reports. 2015 Oct 13;5(4):558-68. doi: 10.1016/j.stemcr.2015.08.005. Epub 2015 Sep 3. Stem Cell Reports. 2015. PMID: 26344905 Free PMC article.