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Page 1
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.
Graziano C, Wischmeijer A, Pippucci T, Fusco C, Diquigiovanni C, Nõukas M, Sauk M, Kurg A, Rivieri F, Blau N, Hoffmann GF, Chaubey A, Schwartz CE, Romeo G, Bonora E, Garavelli L, Seri M. Graziano C, et al. Among authors: fusco c. Gene. 2015 Apr 1;559(2):144-8. doi: 10.1016/j.gene.2015.01.026. Epub 2015 Jan 14. Gene. 2015. PMID: 25597765
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: fusco c. Mol Syndromol. 2016 Nov;7(6):337-343. doi: 10.1159/000450718. Epub 2016 Oct 14. Mol Syndromol. 2016. PMID: 27920637 Free PMC article.
Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.
Maini I, Ivanovski I, Djuric O, Caraffi SG, Errichiello E, Marinelli M, Franchi F, Bizzarri V, Rosato S, Pollazzon M, Gelmini C, Malacarne M, Fusco C, Gargano G, Bernasconi S, Zuffardi O, Garavelli L. Maini I, et al. Among authors: fusco c. Ital J Pediatr. 2018 Mar 9;44(1):34. doi: 10.1186/s13052-018-0467-z. Ital J Pediatr. 2018. PMID: 29523172 Free PMC article.
Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum.
Iodice A, Carecchio M, Zorzi G, Garavaglia B, Spagnoli C, Salerno GG, Frattini D, Mencacci NE, Invernizzi F, Veneziano L, Mantuano E, Angriman M, Fusco C. Iodice A, et al. Among authors: fusco c. Brain Dev. 2019 Mar;41(3):250-256. doi: 10.1016/j.braindev.2018.10.001. Epub 2018 Oct 21. Brain Dev. 2019. PMID: 30352709
Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy.
Spagnoli C, Soliani L, Caraffi SG, Baga M, Rizzi S, Salerno GG, Frattini D, Garavelli L, Koskenvuo J, Pisani F, Fusco C. Spagnoli C, et al. Among authors: fusco c. Parkinsonism Relat Disord. 2020 Jul;76:54-55. doi: 10.1016/j.parkreldis.2020.05.031. Epub 2020 Jun 1. Parkinsonism Relat Disord. 2020. PMID: 32810689 No abstract available.
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: fusco c. 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: fusco c. 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
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.
Trimarchi G, Caraffi SG, Radio FC, Barresi S, Contrò G, Pizzi S, Maini I, Pollazzon M, Fusco C, Sassi S, Nicoli D, Napoli M, Pascarella R, Gargano G, Zuffardi O, Tartaglia M, Garavelli L. Trimarchi G, et al. Among authors: fusco c. Genes (Basel). 2021 Jun 22;12(7):950. doi: 10.3390/genes12070950. Genes (Basel). 2021. PMID: 34206215 Free PMC article.
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
Contrò G, Micalizzi A, Giangiobbe S, Caraffi SG, Zuntini R, Rosato S, Pollazzon M, Terracciano A, Napoli M, Rizzi S, Salerno GG, Radio FC, Niceta M, Parrini E, Fusco C, Gargano G, Guerrini R, Tartaglia M, Novelli A, Zuffardi O, Garavelli L. Contrò G, et al. Among authors: fusco c. Genes (Basel). 2021 Aug 5;12(8):1208. doi: 10.3390/genes12081208. Genes (Basel). 2021. PMID: 34440382 Free PMC article.
394 results