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Page 1
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivè M, Bonne G, Mari F, Caldara R, Fazio R, Mammì I, Carrera P, Toniolo D, Comi G, Quattrini A, Ferrari M, Previtali SC. Benedetti S, et al. Among authors: mammi i. Neurology. 2007 Sep 18;69(12):1285-92. doi: 10.1212/01.wnl.0000261254.87181.80. Epub 2007 Mar 21. Neurology. 2007. PMID: 17377071
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E. Aspromonte MC, et al. Among authors: mammi i. Hum Mutat. 2019 Sep;40(9):1346-1363. doi: 10.1002/humu.23822. Epub 2019 Aug 2. Hum Mutat. 2019. PMID: 31209962 Free PMC article.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E. Aspromonte MC, et al. Among authors: mammi i. Hum Mutat. 2020 Jun;41(6):1183. doi: 10.1002/humu.24012. Epub 2020 Mar 20. Hum Mutat. 2020. PMID: 32400065 No abstract available.
Concomitant IDH wild-type glioblastoma and IDH1-mutant anaplastic astrocytoma in a patient with constitutional mismatch repair deficiency syndrome.
Galuppini F, Opocher E, Tabori U, Mammi I, Edwards M, Campbell B, Kelly J, Viel A, Quaia M, Rivieri F, D'Avella D, Arcella A, Giangaspero F, Fassan M, Gardiman MP. Galuppini F, et al. Among authors: mammi i. Neuropathol Appl Neurobiol. 2018 Feb;44(2):233-239. doi: 10.1111/nan.12450. Neuropathol Appl Neurobiol. 2018. PMID: 29130549 No abstract available.
52 results