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Page 1
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: marino b. 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.
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: marino b. 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
Gender differences in congenital heart defects: a narrative review.
Pugnaloni F, Felici A, Corno AF, Marino B, Versacci P, Putotto C. Pugnaloni F, et al. Among authors: marino b. Transl Pediatr. 2023 Sep 18;12(9):1753-1764. doi: 10.21037/tp-23-260. Epub 2023 Sep 11. Transl Pediatr. 2023. PMID: 37814719 Free PMC article. Review.
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
Calcagni G, Ferrigno F, Franceschini A, Dentici ML, Capolino R, Sinibaldi L, Minotti C, Micalizzi A, Alesi V, Novelli A, Baban A, Parlapiano G, Coviello D, Versacci P, Putotto C, Chinali M, Drago F, Bartuli A, Marino B, Digilio MC. Calcagni G, et al. Among authors: marino b. Diagnostics (Basel). 2024 Mar 11;14(6):594. doi: 10.3390/diagnostics14060594. Diagnostics (Basel). 2024. PMID: 38535015 Free PMC article.
COVID-19 Severity, Cardiological Outcome, and Immunogenicity of mRNA Vaccine on Adult Patients With 22q11.2 DS.
Pulvirenti F, Mortari EP, Putotto C, Terreri S, Fernandez Salinas A, Cinicola BL, Cimini E, Di Napoli G, Sculco E, Milito C, Versacci P, Agrati C, Marino B, Carsetti R, Quinti I. Pulvirenti F, et al. Among authors: marino b. J Allergy Clin Immunol Pract. 2023 Jan;11(1):292-305.e2. doi: 10.1016/j.jaip.2022.10.010. Epub 2022 Oct 21. J Allergy Clin Immunol Pract. 2023. PMID: 36280136 Free PMC article.
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
Blagowidow N, Nowakowska B, Schindewolf E, Grati FR, Putotto C, Breckpot J, Swillen A, Crowley TB, Loo JCY, Lairson LA, Óskarsdóttir S, Boot E, Garcia-Minaur S, Cristina Digilio M, Marino B, Coleman B, Moldenhauer JS, Bassett AS, McDonald-McGinn DM. Blagowidow N, et al. Among authors: marino b. Genes (Basel). 2023 Jan 6;14(1):160. doi: 10.3390/genes14010160. Genes (Basel). 2023. PMID: 36672900 Free PMC article. Review.
935 results