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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. Hum Mutat. 2008 Jul;29(7):911-20. doi: 10.1002/humu.20752. Hum Mutat. 2008. PMID: 18412286 Review.
Diamond-Blackfan anaemia in the Italian population.
Ramenghi U, Garelli E, Valtolina S, Campagnoli MF, Timeus F, Crescenzio N, Mair M, Varotto S, D'Avanzo M, Nobili B, Massolo F, Mori PG, Locatelli F, Gustavsson P, Dahl N, Dianzani I. Ramenghi U, et al. Among authors: campagnoli mf. Br J Haematol. 1999 Mar;104(4):841-8. doi: 10.1046/j.1365-2141.1999.01267.x. Br J Haematol. 1999. PMID: 10192448 Free article.
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: campagnoli mf. BMC Genomics. 2009 Sep 18;10:442. doi: 10.1186/1471-2164-10-442. BMC Genomics. 2009. PMID: 19765279 Free PMC article.
Severe malignant osteopetrosis caused by a GL gene mutation.
Quarello P, Forni M, Barberis L, Defilippi C, Campagnoli MF, Silvestro L, Frattini A, Chalhoub N, Vacher J, Ramenghi U. Quarello P, et al. Among authors: campagnoli mf. J Bone Miner Res. 2004 Jul;19(7):1194-9. doi: 10.1359/JBMR.040407. Epub 2004 Apr 12. J Bone Miner Res. 2004. PMID: 15177004 Free article.
21 results