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Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.
Laino L, Bottillo I, Piedimonte C, Bernardini L, Torres B, Grammatico B, Bargiacchi S, Mulargia C, Calvani M, Cardona F, Castori M, Grammatico P. Laino L, et al. Among authors: bernardini l. Eur J Paediatr Neurol. 2016 Nov;20(6):971-976. doi: 10.1016/j.ejpn.2016.07.003. Epub 2016 Jul 11. Eur J Paediatr Neurol. 2016. PMID: 27470653
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Piceci-Sparascio F, Micale L, Torres B, Guida V, Consoli F, Torrente I, Onori A, Frustaci E, D'Asdia MC, Petrizzelli F, Bernardini L, Mancini C, Soli F, Cocciadiferro D, Guadagnolo D, Mastromoro G, Putotto C, Fontana F, Brunetti-Pierri N, Novelli A, Pizzuti A, Marino B, Digilio MC, Mazza T, Dallapiccola B, Ruiz-Perez VL, Tartaglia M, Castori M, De Luca A. Piceci-Sparascio F, et al. Among authors: bernardini l. Eur J Hum Genet. 2023 Apr;31(4):479-484. doi: 10.1038/s41431-022-01276-7. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599940 Free PMC article.
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?
Bernardini L, Alesi V, Loddo S, Novelli A, Bottillo I, Battaglia A, Digilio MC, Zampino G, Ertel A, Fortina P, Surrey S, Dallapiccola B. Bernardini L, et al. Eur J Hum Genet. 2010 Feb;18(2):178-85. doi: 10.1038/ejhg.2009.154. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809473 Free PMC article.
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.
Traversa A, Bernardo S, Paiardini A, Giovannetti A, Marchionni E, Genovesi ML, Guadagnolo D, Torres B, Paolacci S, Bernardini L, Mazza T, Carella M, Caputo V, Pizzuti A. Traversa A, et al. Among authors: bernardini l. Mol Genet Genomic Med. 2020 Jan;8(1):e1054. doi: 10.1002/mgg3.1054. Epub 2019 Nov 22. Mol Genet Genomic Med. 2020. PMID: 31756055 Free PMC article.
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease.
Putotto C, Unolt M, Lambiase C, Marchetti F, Anaclerio S, Favoriti A, Tancredi G, Mastromoro G, Pugnaloni F, Liberati N, De Luca E, Tarani L, De Canditiis D, Caputo V, Bernardini L, Digilio MC, Marino B, Versacci P. Putotto C, et al. Among authors: bernardini l. Eur J Med Genet. 2023 Jan;66(1):104651. doi: 10.1016/j.ejmg.2022.104651. Epub 2022 Oct 28. Eur J Med Genet. 2023. PMID: 36404488
228 results