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Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.
Digilio MC, Bernardini L, Consoli F, Lepri FR, Giuffrida MG, Baban A, Surace C, Ferese R, Angioni A, Novelli A, Marino B, De Luca A, Dallapiccola B. Digilio MC, et al. Among authors: consoli f. Eur J Med Genet. 2013 Mar;56(3):144-9. doi: 10.1016/j.ejmg.2012.12.004. Epub 2012 Dec 25. Eur J Med Genet. 2013. PMID: 23270675
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.
Niceta M, Margiotti K, Digilio MC, Guida V, Bruselles A, Pizzi S, Ferraris A, Memo L, Laforgia N, Dentici ML, Consoli F, Torrente I, Ruiz-Perez VL, Dallapiccola B, Marino B, De Luca A, Tartaglia M. Niceta M, et al. Among authors: consoli f. Clin Genet. 2018 Mar;93(3):632-639. doi: 10.1111/cge.13128. Epub 2018 Jan 24. Clin Genet. 2018. PMID: 28857138
Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage.
Bidollari E, Rotundo G, Ferrari D, Candido O, Bernardini L, Consoli F, De Luca A, Santimone I, Lamorte G, Ilari A, Squitieri F, Vescovi AL, Rosati J. Bidollari E, et al. Among authors: consoli f. Stem Cell Res. 2018 Apr;28:145-148. doi: 10.1016/j.scr.2018.02.014. Epub 2018 Feb 21. Stem Cell Res. 2018. PMID: 29486399 Free article.
Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease.
Rotundo G, Bidollari E, Ferrari D, Spasari I, Bernardini L, Consoli F, De Luca A, Santimone I, Lamorte G, Migliore S, Squitieri F, Vescovi AL, Rosati J. Rotundo G, et al. Among authors: consoli f. Stem Cell Res. 2018 May;29:174-178. doi: 10.1016/j.scr.2018.04.008. Epub 2018 Apr 21. Stem Cell Res. 2018. PMID: 29704769 Free 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: consoli f. 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.
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
Martinelli S, Stellacci E, Pannone L, D'Agostino D, Consoli F, Lissewski C, Silvano M, Cencelli G, Lepri F, Maitz S, Pauli S, Rauch A, Zampino G, Selicorni A, Melançon S, Digilio MC, Gelb BD, De Luca A, Dallapiccola B, Zenker M, Tartaglia M. Martinelli S, et al. Among authors: consoli f. Hum Mutat. 2015 Aug;36(8):787-96. doi: 10.1002/humu.22809. Epub 2015 Jun 1. Hum Mutat. 2015. PMID: 25952305 Free article.
174 results