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Page 1
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review.
Maini I, Ivanovski I, Iodice A, Rosato S, Pollazzon M, Mussini M, Belligni EF, Coutton C, Marinelli M, Barbieri V, Napoli M, Pascarella R, Sartori C, Madia F, Fusco C, Franchi F, Street ME, Garavelli L. Maini I, et al. Among authors: pascarella r. Mol Syndromol. 2016 Nov;7(6):337-343. doi: 10.1159/000450718. Epub 2016 Oct 14. Mol Syndromol. 2016. PMID: 27920637 Free PMC article.
Complex cranio-vertebral malformation: disruption sequence or iniencephaly?
Pollazzon M, Rosato S, Ivanovski I, Gelmini C, Bertani G, Pascarella R, Napoli M, Garavelli L, Unger S, Superti-Furga A. Pollazzon M, et al. Among authors: pascarella r. Clin Dysmorphol. 2018 Jul;27(3):105-108. doi: 10.1097/MCD.0000000000000218. Clin Dysmorphol. 2018. PMID: 29494358 No abstract available.
Prognostic relevance of cortical superficial siderosis in cerebral amyloid angiopathy.
Wollenweber FA, Opherk C, Zedde M, Catak C, Malik R, Duering M, Konieczny MJ, Pascarella R, Samões R, Correia M, Martí-Fàbregas J, Linn J, Dichgans M. Wollenweber FA, et al. Among authors: pascarella r. Neurology. 2019 Feb 19;92(8):e792-e801. doi: 10.1212/WNL.0000000000006956. Epub 2019 Jan 23. Neurology. 2019. PMID: 30674596
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Maini I, Errichiello E, Caraffi SG, Rosato S, Bizzarri V, Pollazzon M, Trimarchi G, Contrò G, Cavirani B, Gelmini C, Napoli M, Moratti C, Pascarella R, Rizzi S, Fusco C, Zuffardi O, Garavelli L. Maini I, et al. Among authors: pascarella r. Neurogenetics. 2021 Mar;22(1):19-25. doi: 10.1007/s10048-020-00625-2. Epub 2020 Aug 20. Neurogenetics. 2021. PMID: 32816121
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.
Rizzi S, Spagnoli C, Salerno GG, Frattini D, Caraffi SG, Trimarchi G, Moratti C, Pascarella R, Garavelli L, Fusco C. Rizzi S, et al. Among authors: pascarella r. Am J Med Genet A. 2020 Nov;182(11):2675-2679. doi: 10.1002/ajmg.a.61803. Epub 2020 Sep 1. Am J Med Genet A. 2020. PMID: 32875707
180 results