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Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation.
Garelli E, Quarello P, Giorgio E, Carando A, Menegatti E, Mancini C, Di Gregorio E, Crescenzio N, Palumbo O, Carella M, Dimartino P, Pippucci T, Dianzani I, Ramenghi U, Brusco A. Garelli E, et al. Among authors: dianzani i. Br J Haematol. 2019 Jun;185(5):994-998. doi: 10.1111/bjh.15688. Epub 2018 Nov 20. Br J Haematol. 2019. PMID: 30460677 Free article. No abstract available.
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.
Quarello P, Garelli E, Carando A, Mancini C, Foglia L, Botto C, Farruggia P, De Keersmaecker K, Aspesi A, Ellis SR, Dianzani I, Ramenghi U. Quarello P, et al. Among authors: dianzani i. Br J Haematol. 2016 Mar;172(5):782-5. doi: 10.1111/bjh.13880. Epub 2016 Jan 13. Br J Haematol. 2016. PMID: 26763766 Free article.
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?
Quarello P, Garelli E, Carando A, Cillario R, Brusco A, Giorgio E, Ferrante D, Corti P, Zecca M, Luciani M, Pierri F, Putti MC, Cantarini ME, Farruggia P, Barone A, Cesaro S, Russo G, Fagioli F, Dianzani I, Ramenghi U; AIEOP working group on Diamond Blackfan Anaemia. Quarello P, et al. Among authors: dianzani i. Br J Haematol. 2020 Jul;190(1):93-104. doi: 10.1111/bjh.16508. Epub 2020 Feb 21. Br J Haematol. 2020. PMID: 32080838 Free article.
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF, Ramenghi U, Armiraglio M, Quarello P, Garelli E, Carando A, Avondo F, Pavesi E, Fribourg S, Gleizes PE, Loreni F, Dianzani I. Campagnoli MF, et al. Among authors: dianzani i. Hum Mutat. 2008 Jul;29(7):911-20. doi: 10.1002/humu.20752. Hum Mutat. 2008. PMID: 18412286 Review.
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
Avondo F, Roncaglia P, Crescenzio N, Krmac H, Garelli E, Armiraglio M, Castagnoli C, Campagnoli MF, Ramenghi U, Gustincich S, Santoro C, Dianzani I. Avondo F, et al. Among authors: dianzani i. BMC Genomics. 2009 Sep 18;10:442. doi: 10.1186/1471-2164-10-442. BMC Genomics. 2009. PMID: 19765279 Free PMC article.
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.
Quarello P, Garelli E, Brusco A, Carando A, Mancini C, Pappi P, Vinti L, Svahn J, Dianzani I, Ramenghi U. Quarello P, et al. Among authors: dianzani i. Haematologica. 2012 Dec;97(12):1813-7. doi: 10.3324/haematol.2012.062281. Epub 2012 Jun 11. Haematologica. 2012. PMID: 22689679 Free PMC article.
156 results