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Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.
Steinberg-Shemer O, Keel S, Dgany O, Walsh T, Noy-Lotan S, Krasnov T, Yacobovich J, Quarello P, Ramenghi U, King MC, Shimamura A, Tamary H. Steinberg-Shemer O, et al. Among authors: ramenghi u. J Pediatr Hematol Oncol. 2016 Oct;38(7):e260-2. doi: 10.1097/MPH.0000000000000587. J Pediatr Hematol Oncol. 2016. PMID: 27258031 Free PMC 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: ramenghi u. Hum Mutat. 2008 Jul;29(7):911-20. doi: 10.1002/humu.20752. Hum Mutat. 2008. PMID: 18412286 Review.
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: ramenghi u. Haematologica. 2012 Dec;97(12):1813-7. doi: 10.3324/haematol.2012.062281. Epub 2012 Jun 11. Haematologica. 2012. PMID: 22689679 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: ramenghi u. 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.
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis.
Farrar JE, Quarello P, Fisher R, O'Brien KA, Aspesi A, Parrella S, Henson AL, Seidel NE, Atsidaftos E, Prakash S, Bari S, Garelli E, Arceci RJ, Dianzani I, Ramenghi U, Vlachos A, Lipton JM, Bodine DM, Ellis SR. Farrar JE, et al. Among authors: ramenghi u. Am J Hematol. 2014 Oct;89(10):985-91. doi: 10.1002/ajh.23807. Epub 2014 Aug 4. Am J Hematol. 2014. PMID: 25042156 Free PMC article.
187 results