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105 results

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Persistent neck pain in a girl: Klippel-Feil syndrome.
Buonuomo PS, Macchiaiolo M, Colafati GS, Rana I, Tomà P, Gonfiantini MV, Bartuli A. Buonuomo PS, et al. Among authors: colafati gs. Arch Dis Child. 2014 Mar;99(3):290-1. doi: 10.1136/archdischild-2013-305203. Epub 2013 Nov 28. Arch Dis Child. 2014. PMID: 24288136 No abstract available.
Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination.
Rossi S, Barresi S, Giovannoni I, Alesi V, Ciolfi A, Colafati GS, Diomedi-Camassei F, Miele E, Cacchione A, Quacquarini D, Carai A, Tartaglia M, Giannini C, Giangaspero F, Mastronuzzi A, Alaggio R. Rossi S, et al. Among authors: colafati gs. Brain Pathol. 2021 May;31(3):e12934. doi: 10.1111/bpa.12934. Epub 2021 Feb 15. Brain Pathol. 2021. PMID: 33378126 Free PMC article.
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.
Agolini E, Botta E, Lodi M, Digilio MC, Rinelli M, Bellacchio E, Alesi V, Nardo T, Zambruno G, Orioli D, Alessi I, Boccuto L, Rossi S, Carai A, Colafati GS, Cacchione A, Dallapiccola B, Novelli A, Mastronuzzi A. Agolini E, et al. Among authors: colafati gs. Clin Genet. 2021 Jun;99(6):842-848. doi: 10.1111/cge.13957. Epub 2021 Apr 5. Clin Genet. 2021. PMID: 33733458
ALK-rearranged histiocytosis: Report of two cases with involvement of the central nervous system.
Rossi S, Gessi M, Barresi S, Tamburrini G, Giovannoni I, Ruggiero A, Colafati GS, Frassanito P, Carboni A, Alexandre A, Cacchione A, Trombatore P, Diomedi-Camassei F, Gaspari S, Gianno F, Marras CE, Cecinati V, Carai A, Mastronuzzi A, Alaggio R. Rossi S, et al. Among authors: colafati gs. Neuropathol Appl Neurobiol. 2021 Oct;47(6):878-881. doi: 10.1111/nan.12739. Epub 2021 Jun 18. Neuropathol Appl Neurobiol. 2021. PMID: 34048085
Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiological Case Study.
Costanzo F, Zanni G, Fucà E, Di Paola M, Barresi S, Travaglini L, Colafati GS, Gambardella A, Bellacchio E, Bertini E, Menghini D, Vicari S. Costanzo F, et al. Among authors: colafati gs. Int J Environ Res Public Health. 2022 Jan 22;19(3):1224. doi: 10.3390/ijerph19031224. Int J Environ Res Public Health. 2022. PMID: 35162247 Free PMC article.
105 results