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Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Piceci-Sparascio F, Palencia-Campos A, Soto-Bielicka P, D'Anzi A, Guida V, Rosati J, Caparros-Martin JA, Torrente I, D'Asdia MC, Versacci P, Briuglia S, Lapunzina P, Tartaglia M, Marino B, Digilio MC, Ruiz-Perez VL, De Luca A. Piceci-Sparascio F, et al. Among authors: rosati j. Hum Mutat. 2020 Dec;41(12):2087-2093. doi: 10.1002/humu.24112. Epub 2020 Oct 14. Hum Mutat. 2020. PMID: 32906221
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM. De Mori R, et al. Among authors: rosati j. Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965847 Free PMC 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: rosati j. 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 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: rosati j. 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.
Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients.
Perciballi E, Bovio F, Rosati J, Arrigoni F, D'Anzi A, Lattante S, Gelati M, De Marchi F, Lombardi I, Ruotolo G, Forcella M, Mazzini L, D'Alfonso S, Corrado L, Sabatelli M, Conte A, De Gioia L, Martino S, Vescovi AL, Fusi P, Ferrari D. Perciballi E, et al. Among authors: rosati j. Antioxidants (Basel). 2022 Apr 22;11(5):815. doi: 10.3390/antiox11050815. Antioxidants (Basel). 2022. PMID: 35624679 Free PMC article.
Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein.
D'Anzi A, Perciballi E, Ruotolo G, Ferrari D, Notaro A, Lombardi I, Gelati M, Frezza K, Bernardini L, Torrente I, De Luca A, La Bella V, Luigi Vescovi A, Rosati J. D'Anzi A, et al. Among authors: rosati j. Stem Cell Res. 2022 Aug;63:102835. doi: 10.1016/j.scr.2022.102835. Epub 2022 Jun 6. Stem Cell Res. 2022. PMID: 35714448 Free article.
Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) gene.
Casamassa A, Zanetti A, Ferrari D, Lombardi I, Galluzzi G, D'Avanzo F, Cipressa G, Bertozzi A, Torrente I, Vescovi AL, Tomanin R, Rosati J. Casamassa A, et al. Among authors: rosati j. Stem Cell Res. 2022 Aug;63:102846. doi: 10.1016/j.scr.2022.102846. Epub 2022 Jun 21. Stem Cell Res. 2022. PMID: 35759972 Free article.
94 results