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L1CAM variants cause two distinct imaging phenotypes on fetal MRI.
Accogli A, Goergen S, Izzo G, Mankad K, Krajden Haratz K, Parazzini C, Fahey M, Menzies L, Baptista J, Carpineta L, Tortora D, Fulcheri E, Gaetano Vellone V, Paladini D, Spaccini L, Toto V, Trayers C, Ben Sira L, Reches A, Malinger G, Salpietro V, De Marco P, Srour M, Zara F, Capra V, Rossi A, Severino M. Accogli A, et al. Among authors: spaccini l. Ann Clin Transl Neurol. 2021 Oct;8(10):2004-2012. doi: 10.1002/acn3.51448. Epub 2021 Sep 12. Ann Clin Transl Neurol. 2021. PMID: 34510796 Free PMC article.
Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.
Cesaretti C, Spaccini L, Righini A, Parazzini C, Conte G, Crosti F, Redaelli S, Bulfamante G, Avagliano L, Rustico M. Cesaretti C, et al. Among authors: spaccini l. Am J Med Genet A. 2016 May;170A(5):1352-7. doi: 10.1002/ajmg.a.37594. Epub 2016 Feb 10. Am J Med Genet A. 2016. PMID: 26864752
Familial Precocious Fetal Abnormal Cortical Sulcation.
Frassoni C, Avagliano L, Inverardi F, Spaccini L, Parazzini C, Rustico MA, Bulfamante G, Righini A. Frassoni C, et al. Among authors: spaccini l. Neuropediatrics. 2016 Aug;47(4):253-8. doi: 10.1055/s-0036-1583185. Epub 2016 May 13. Neuropediatrics. 2016. PMID: 27177044
Mild ventriculomegaly from fetal consultation to neurodevelopmental assessment: A single center experience and review of the literature.
Scelsa B, Rustico M, Righini A, Parazzini C, Balestriero MA, Introvini P, Spaccini L, Mastrangelo M, Lista G, Zuccotti GV, Veggiotti P. Scelsa B, et al. Among authors: spaccini l. Eur J Paediatr Neurol. 2018 Nov;22(6):919-928. doi: 10.1016/j.ejpn.2018.04.001. Epub 2018 Apr 12. Eur J Paediatr Neurol. 2018. PMID: 29709429 Review.
Major Discordant Structural Anomalies in Monochorionic Twins: Spectrum and Outcomes.
Rustico MA, Lanna M, Faiola S, Casati D, Spaccini L, Righini A, Parazzini C, Napolitano M, Scelsa B, Lista G, Corti C, Riccipetitoni G, Cetin I. Rustico MA, et al. Among authors: spaccini l. Twin Res Hum Genet. 2018 Dec;21(6):546-555. doi: 10.1017/thg.2018.58. Epub 2018 Oct 30. Twin Res Hum Genet. 2018. PMID: 30375322
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations.
Villa R, Fergnani VGC, Silipigni R, Guerneri S, Cinnante C, Guala A, Danesino C, Scola E, Conte G, Fumagalli M, Gangi S, Colombo L, Picciolini O, Ajmone PF, Accogli A, Madia F, Tassano E, Scala M, Capra V, Srour M, Spaccini L, Righini A, Greco D, Castiglia L, Romano C, Bedeschi MF. Villa R, et al. Among authors: spaccini l. Eur J Paediatr Neurol. 2020 Sep;28:110-119. doi: 10.1016/j.ejpn.2020.07.002. Epub 2020 Jul 28. Eur J Paediatr Neurol. 2020. PMID: 32800423 Free article.
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