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Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.
Taha I, Foroni S, Valli R, Frattini A, Roccia P, Porta G, Zecca M, Bergami E, Cipolli M, Pasquali F, Danesino C, Scotti C, Minelli A. Taha I, et al. Among authors: scotti c. Front Genet. 2022 Aug 12;13:896749. doi: 10.3389/fgene.2022.896749. eCollection 2022. Front Genet. 2022. PMID: 36035165 Free PMC article.
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
Morini J, Nacci L, Babini G, Cesaro S, Valli R, Ottolenghi A, Nicolis E, Pintani E, Maserati E, Cipolli M, Danesino C, Scotti C, Minelli A. Morini J, et al. Among authors: scotti c. Br J Haematol. 2019 May;185(3):627-630. doi: 10.1111/bjh.15594. Epub 2018 Sep 10. Br J Haematol. 2019. PMID: 30198570 Free article. No abstract available.
Genotype-phenotype correlation in Pompe disease, a step forward.
De Filippi P, Saeidi K, Ravaglia S, Dardis A, Angelini C, Mongini T, Morandi L, Moggio M, Di Muzio A, Filosto M, Bembi B, Giannini F, Marrosu G, Rigoldi M, Tonin P, Servidei S, Siciliano G, Carlucci A, Scotti C, Comelli M, Toscano A, Danesino C. De Filippi P, et al. Among authors: scotti c. Orphanet J Rare Dis. 2014 Aug 8;9:102. doi: 10.1186/s13023-014-0102-z. Orphanet J Rare Dis. 2014. PMID: 25103075 Free PMC article.
Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago.
Sbalchiero A, Abu Hweij Y, Mazza T, Buscarini E, Scotti C, Pagella F, Manfredi G, Matti E, Spinozzi G, Olivieri C. Sbalchiero A, et al. Among authors: scotti c. Mol Genet Genomic Med. 2022 Aug;10(8):e1972. doi: 10.1002/mgg3.1972. Epub 2022 May 27. Mol Genet Genomic Med. 2022. PMID: 35620871 Free PMC article.
Cell-cycle inhibition by Helicobacter pylori L-asparaginase.
Scotti C, Sommi P, Pasquetto MV, Cappelletti D, Stivala S, Mignosi P, Savio M, Chiarelli LR, Valentini G, Bolanos-Garcia VM, Merrell DS, Franchini S, Verona ML, Bolis C, Solcia E, Manca R, Franciotta D, Casasco A, Filipazzi P, Zardini E, Vannini V. Scotti C, et al. PLoS One. 2010 Nov 9;5(11):e13892. doi: 10.1371/journal.pone.0013892. PLoS One. 2010. PMID: 21085483 Free PMC article.
148 results