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Page 1
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.
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
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.
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.
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
Zhao Y, Wang Y, Shi L, McDonald-McGinn DM, Crowley TB, McGinn DE, Tran OT, Miller D, Lin JR, Zackai E, Johnston HR, Chow EWC, Vorstman JAS, Vingerhoets C, van Amelsvoort T, Gothelf D, Swillen A, Breckpot J, Vermeesch JR, Eliez S, Schneider M, van den Bree MBM, Owen MJ, Kates WR, Repetto GM, Shashi V, Schoch K, Bearden CE, Digilio MC, Unolt M, Putotto C, Marino B, Pontillo M, Armando M, Vicari S, Angkustsiri K, Campbell L, Busa T, Heine-Suñer D, Murphy KC, Murphy D, García-Miñaúr S, Fernández L; International 22q11.2 Brain and Behavior Consortium (IBBC); Zhang ZD, Goldmuntz E, Gur RE, Emanuel BS, Zheng D, Marshall CR, Bassett AS, Wang T, Morrow BE. Zhao Y, et al. Among authors: marino b. NPJ Genom Med. 2023 Jul 18;8(1):17. doi: 10.1038/s41525-023-00363-y. NPJ Genom Med. 2023. PMID: 37463940 Free PMC article.
952 results