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Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7.
Turco EM, Vinci E, Altieri F, Ferrari D, Torres B, Goldoni M, Lamorte G, Tata AM, Mazzoccoli G, Postorivo D, Della Monica M, Bernardini L, Vescovi AL, Rosati J. Turco EM, et al. Among authors: goldoni m. Stem Cell Res. 2018 Oct;32:73-77. doi: 10.1016/j.scr.2018.09.002. Epub 2018 Sep 6. Stem Cell Res. 2018. PMID: 30218896 Free article.
Epilepsy phenotype in patients with Xp22.31 microduplication.
Brinciotti M, Fioriello F, Mittica A, Bernardini L, Goldoni M, Matricardi M. Brinciotti M, et al. Among authors: goldoni m. Epilepsy Behav Case Rep. 2018 Nov 4;11:31-34. doi: 10.1016/j.ebcr.2018.10.004. eCollection 2019. Epilepsy Behav Case Rep. 2018. PMID: 30603611 Free PMC article.
Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA).
Bidollari E, Rotundo G, Altieri F, Amicucci M, Wiquel D, Ferrari D, Goldoni M, Bernardini L, Consoli F, De Luca A, Fanelli S, Lamorte G, D'Agruma L, Vescovi AL, Squitieri F, Rosati J. Bidollari E, et al. Among authors: goldoni m. Stem Cell Res. 2019 Oct;40:101551. doi: 10.1016/j.scr.2019.101551. Epub 2019 Aug 27. Stem Cell Res. 2019. PMID: 31493762 Free article.
Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an Amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene.
D'Anzi A, Altieri F, Perciballi E, Ferrari D, Bernardini L, Goldoni M, Mazzini L, De Marchi F, Di Pierro A, D'Alfonso S, Gelati M, Vescovi AL, Rosati J. D'Anzi A, et al. Among authors: goldoni m. Stem Cell Res. 2020 Jul 25;47:101924. doi: 10.1016/j.scr.2020.101924. Online ahead of print. Stem Cell Res. 2020. PMID: 32739880 Free article.
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Guida V, Sparascio FP, Bernardini L, Pancheri F, Melis D, Cocciadiferro D, Pagnoni M, Puzzo M, Goldoni M, Barone C, Hozhabri H, Putotto C, Giuffrida MG, Briuglia S, Palumbo O, Bianca S, Stanzial F, Benedicenti F, Kariminejad A, Forzano F, Baghernajad Salehi L, Mattina T, Brancati F, Castori M, Carella M, Fadda MT, Iannetti G, Dallapiccola B, Digilio MC, Marino B, Tartaglia M, De Luca A. Guida V, et al. Among authors: goldoni m. Clin Genet. 2021 Sep;100(3):268-279. doi: 10.1111/cge.13994. Epub 2021 May 24. Clin Genet. 2021. PMID: 33988253
Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders.
Milone R, Cesario C, Goldoni M, Pasquariello R, Fusilli C, Giovannetti A, Giglio S, Novelli A, Caputo V, Cioni G, Mazza T, Battaglia A, Bernardini L, Battini R. Milone R, et al. Among authors: goldoni m. J Pediatr Genet. 2020 Sep 18;10(4):292-299. doi: 10.1055/s-0040-1716398. eCollection 2021 Dec. J Pediatr Genet. 2020. PMID: 34849274 Free PMC article.
199 results