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Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, Zoppi N, Vascellaro A, Wischmeijer A, Manfredini E, Garavelli L, Calzavara-Pinton P, Colombi M. Ritelli M, et al. Among authors: traversa m. Orphanet J Rare Dis. 2013 Apr 12;8:58. doi: 10.1186/1750-1172-8-58. Orphanet J Rare Dis. 2013. PMID: 23587214 Free PMC article.
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.
Ritelli M, Chiarelli N, Zoppi N, Dordoni C, Quinzani S, Traversa M, Venturini M, Calzavara-Pinton P, Colombi M. Ritelli M, et al. Among authors: traversa m. Mol Genet Metab Rep. 2014 Nov 20;2:1-15. doi: 10.1016/j.ymgmr.2014.11.005. eCollection 2015 Mar. Mol Genet Metab Rep. 2014. PMID: 28649518 Free PMC article.
Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.
Giacopuzzi E, Gennarelli M, Minelli A, Gardella R, Valsecchi P, Traversa M, Bonvicini C, Vita A, Sacchetti E, Magri C. Giacopuzzi E, et al. Among authors: traversa m. PLoS One. 2017 Aug 7;12(8):e0182778. doi: 10.1371/journal.pone.0182778. eCollection 2017. PLoS One. 2017. PMID: 28787007 Free PMC article.
New copy number variations in schizophrenia.
Magri C, Sacchetti E, Traversa M, Valsecchi P, Gardella R, Bonvicini C, Minelli A, Gennarelli M, Barlati S. Magri C, et al. Among authors: traversa m. PLoS One. 2010 Oct 13;5(10):e13422. doi: 10.1371/journal.pone.0013422. PLoS One. 2010. PMID: 20967226 Free PMC article.
51 results