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A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
Nardella G, Visci G, Guarnieri V, Castellana S, Biagini T, Bisceglia L, Palumbo O, Trivisano M, Vaira C, Scerrati M, Debrasi D, D'Angelo V, Carella M, Merla G, Mazza T, Castori M, D'Agruma L, Fusco C. Nardella G, et al. Hum Mutat. 2018 Dec;39(12):1885-1900. doi: 10.1002/humu.23629. Epub 2018 Sep 24. Hum Mutat. 2018. PMID: 30161288
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.
Fusco C, Nardella G, Petracca A, Ronchi D, Paciello N, Di Giacomo M, Gambardella S, Lanfranconi S, Zampatti S, D'Agruma L, Micale L, Castori M. Fusco C, et al. Among authors: d agruma l. Clin Genet. 2021 Jun;99(6):829-835. doi: 10.1111/cge.13944. Epub 2021 Feb 25. Clin Genet. 2021. PMID: 33604894
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
Ciavarella M, Coco M, Baorda F, Stanziale P, Chetta M, Bisceglia L, Palumbo P, Bengala M, Raiteri P, Silengo M, Caldarini C, Facchini R, Lala R, Cavaliere ML, De Brasi D, Pasini B, Zelante L, Guarnieri V, D'Agruma L. Ciavarella M, et al. Gene. 2013 Feb 25;515(2):339-48. doi: 10.1016/j.gene.2012.11.055. Epub 2012 Dec 20. Gene. 2013. PMID: 23262345
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Fusco C, Nardella G, Fischetto R, Copetti M, Petracca A, Annunziata F, Augello B, D'Asdia MC, Petrucci S, Mattina T, Rella A, Cassina M, Bengala M, Biagini T, Causio FA, Caldarini C, Brancati F, De Luca A, Guarnieri V, Micale L, D'Agruma L, Castori M. Fusco C, et al. Hum Mol Genet. 2019 Jul 1;28(13):2133-2142. doi: 10.1093/hmg/ddz046. Hum Mol Genet. 2019. PMID: 30806661
60 results