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Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, Porto B, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Torrent M, Estella J, Dasí A, Rodríguez-Villa A, Gómez P, Barbot J, Tapia M, Molinés A, Figuera A, Bueren JA, Surrallés J. Castella M, et al. Among authors: porto b. Blood. 2011 Apr 7;117(14):3759-69. doi: 10.1182/blood-2010-08-299917. Epub 2011 Jan 27. Blood. 2011. PMID: 21273304 Free PMC article.
[Fanconi anemia: cytogenetic diagnosis of 40 cases].
Porto B, Sousa R, Ponte F, Torgal A, Campilho F, Campos A, Gonçalves C, Barbot J. Porto B, et al. Acta Med Port. 2011 May-Jun;24(3):405-12. Epub 2011 Aug 12. Acta Med Port. 2011. PMID: 22015027 Free article. Portuguese.
Audiologic abnormalities of Fanconi anaemia.
Vale MJ, Dinis MJ, Bini-Antunes M, Porto B, Barbot J, Coutinho MB. Vale MJ, et al. Among authors: porto b. Acta Otolaryngol. 2008 Sep;128(9):992-6. doi: 10.1080/00016480701793750. Acta Otolaryngol. 2008. PMID: 19086307
Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis.
Sousa R, Gonçalves C, Guerra IC, Costa E, Fernandes A, do Bom Sucesso M, Azevedo J, Rodriguez A, Rius R, Seabra C, Ferreira F, Ribeiro L, Ferrão A, Castedo S, Cleto E, Coutinho J, Carvalho F, Barbot J, Porto B. Sousa R, et al. Among authors: porto b. Orphanet J Rare Dis. 2016 Jul 25;11(1):102. doi: 10.1186/s13023-016-0485-0. Orphanet J Rare Dis. 2016. PMID: 27456001 Free PMC article.
103 results