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Page 1
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: pavesi e. Hum Mutat. 2008 Jul;29(7):911-20. doi: 10.1002/humu.20752. Hum Mutat. 2008. PMID: 18412286 Review.
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Kartal M, Da Costa L, Proust A, Leblanc T, Simansour M, Dahl N, Fröjmark AS, Pospisilova D, Cmejla R, Beggs AH, Sheen MR, Landowski M, Buros CM, Clinton CM, Dobson LJ, Vlachos A, Atsidaftos E, Lipton JM, Ellis SR, Ramenghi U, Dianzani I. Boria I, et al. Among authors: pavesi e. Hum Mutat. 2010 Dec;31(12):1269-79. doi: 10.1002/humu.21383. Hum Mutat. 2010. PMID: 20960466 Free PMC article.
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.
Parrella S, Aspesi A, Quarello P, Garelli E, Pavesi E, Carando A, Nardi M, Ellis SR, Ramenghi U, Dianzani I. Parrella S, et al. Among authors: pavesi e. Pediatr Blood Cancer. 2014 Jul;61(7):1319-21. doi: 10.1002/pbc.24944. Epub 2014 Jan 22. Pediatr Blood Cancer. 2014. PMID: 24453067 Free PMC article. Clinical Trial.
Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia.
Aspesi A, Pavesi E, Robotti E, Crescitelli R, Boria I, Avondo F, Moniz H, Da Costa L, Mohandas N, Roncaglia P, Ramenghi U, Ronchi A, Gustincich S, Merlin S, Marengo E, Ellis SR, Follenzi A, Santoro C, Dianzani I. Aspesi A, et al. Among authors: pavesi e. Gene. 2014 Jul 25;545(2):282-9. doi: 10.1016/j.gene.2014.04.077. Epub 2014 May 15. Gene. 2014. PMID: 24835311 Free PMC article.
NOLA1 gene mutations in acquired aplastic anemia.
Pigullo S, Pavesi E, Dianzani I, Santamaria G, Svahn J, Risso M, Van Lint MT, Pillon M, Iori AP, Longoni D, Ramenghi U, Lanciotti M, Dufour C. Pigullo S, et al. Among authors: pavesi e. Pediatr Blood Cancer. 2009 Mar;52(3):376-8. doi: 10.1002/pbc.21813. Pediatr Blood Cancer. 2009. PMID: 18989882
Analysis of the interactome of ribosomal protein S19 mutants.
Caterino M, Aspesi A, Pavesi E, Imperlini E, Pagnozzi D, Ingenito L, Santoro C, Dianzani I, Ruoppolo M. Caterino M, et al. Among authors: pavesi e. Proteomics. 2014 Oct;14(20):2286-96. doi: 10.1002/pmic.201300513. Epub 2014 Sep 18. Proteomics. 2014. PMID: 25069755
45 results