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Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M. Cafiero C, et al. Among authors: asaro a. Eur J Hum Genet. 2015 Nov;23(11):1499-504. doi: 10.1038/ejhg.2015.19. Epub 2015 Feb 25. Eur J Hum Genet. 2015. PMID: 25712080 Free PMC article.
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.
Zollino M, Orteschi D, Ruiter M, Pfundt R, Steindl K, Cafiero C, Ricciardi S, Contaldo I, Chieffo D, Ranalli D, Acquafondata C, Murdolo M, Marangi G, Asaro A, Battaglia D. Zollino M, et al. Among authors: asaro a. Epilepsia. 2014 Jun;55(6):849-57. doi: 10.1111/epi.12617. Epub 2014 Apr 16. Epilepsia. 2014. PMID: 24738919 Free article.
A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset.
De Rose DU, Gallini F, Battaglia DI, Tiberi E, Gaudino S, Contaldo I, Veredice C, Romeo DM, Massimi L, Asaro A, Cereda C, Vento G, Mercuri EM. De Rose DU, et al. Among authors: asaro a. Neurol Sci. 2021 Nov;42(11):4759-4765. doi: 10.1007/s10072-021-05480-z. Epub 2021 Jul 22. Neurol Sci. 2021. PMID: 34292449 Free PMC article.
Unique genomic profile associated with pediatric uveal melanoma.
Blasi MA, Orteschi D, Pagliara MM, Coco G, Asaro A, Mulè A, Petrone G, Zollino M. Blasi MA, et al. Among authors: asaro a. Eur J Ophthalmol. 2015 Jul-Aug;25(4):e31-4. doi: 10.5301/ejo.5000600. Eur J Ophthalmol. 2015. PMID: 25790812
Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.
Varesio C, Gana S, Asaro A, Ballante E, Cabini RF, Tartara E, Bagnaschi M, Pasca L, Valente M, Orcesi S, Cereda C, Veggiotti P, Borgatti R, Valente EM, De Giorgis V. Varesio C, et al. Among authors: asaro a. Diagnostics (Basel). 2021 May 25;11(6):948. doi: 10.3390/diagnostics11060948. Diagnostics (Basel). 2021. PMID: 34070668 Free PMC article.
Cortical malformations and COL4A1 mutation: Three new cases.
Vitale G, Pichiecchio A, Ormitti F, Tonduti D, Asaro A, Farina L, Piccolo B, Percesepe A, Bastianello S, Orcesi S; COL4A1 International Study Group. Vitale G, et al. Among authors: asaro a. Eur J Paediatr Neurol. 2019 May;23(3):410-417. doi: 10.1016/j.ejpn.2019.02.006. Epub 2019 Feb 22. Eur J Paediatr Neurol. 2019. PMID: 30837194
Does sex influence the prognosis of laryngeal cancer? A systematic review and a meta-analysis.
Locatello LG, Costantino A, Maniaci A, Fermi M, Barillari MR, Sampieri C, Bellini E, Serafini E, Jiang S, Nocera F, Asaro A, Midolo M, Rodio A, Piersiala K, Sooriyamoorthy T, Dimitriadis PA, Mannelli G. Locatello LG, et al. Among authors: asaro a. Am J Otolaryngol. 2024 Mar-Apr;45(2):104195. doi: 10.1016/j.amjoto.2023.104195. Epub 2023 Dec 15. Am J Otolaryngol. 2024. PMID: 38134851 No abstract available.
27 results