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Page 1
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C, Percy MJ, Gardie B, Maia TM, van Wijk R, Perrotta S, Della Ragione F, Almeida H, Rossi C, Girodon F, Aström M, Neumann D, Schnittger S, Landin B, Minkov M, Randi ML, Richard S, Casadevall N, Vainchenker W, Rives S, Hermouet S, Ribeiro ML, McMullin MF, Cario H; ECE-Consortium; Chauveau A, Gimenez-Roqueplo AP, Bressac-de-Paillerets B, Altindirek D, Lorenzo F, Lambert F, Dan H, Gad-Lapiteau S, Catarina Oliveira A, Rossi C, Fraga C, Taradin G, Martin-Nuñez G, Vitória H, Diaz Aguado H, Palmblad J, Vidán J, Relvas L, Ribeiro ML, Luigi Larocca M, Luigia Randi M, Pedro Silveira M, Percy M, Gross M, Marques da Costa R, Beshara S, Ben-Ami T, Ugo V; ECE-Consortium. Bento C, et al. Among authors: della ragione f. Hum Mutat. 2014 Jan;35(1):15-26. doi: 10.1002/humu.22448. Epub 2013 Oct 22. Hum Mutat. 2014. PMID: 24115288
Erythropoietin receptors on cancer cells: a still open question.
Della Ragione F, Cucciolla V, Borriello A, Oliva A, Perrotta S. Della Ragione F, et al. J Clin Oncol. 2007 May 1;25(13):1812-3; author reply 1815. doi: 10.1200/JCO.2006.09.7212. J Clin Oncol. 2007. PMID: 17470877 No abstract available.
The HIF2A gene in familial erythrocytosis.
Perrotta S, Della Ragione F. Perrotta S, et al. Among authors: della ragione f. N Engl J Med. 2008 May 1;358(18):1966; author reply 1966-7. N Engl J Med. 2008. PMID: 18456918 No abstract available.
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.
Perrotta S, Stiehl DP, Punzo F, Scianguetta S, Borriello A, Bencivenga D, Casale M, Nobili B, Fasoli S, Balduzzi A, Cro L, Nytko KJ, Wenger RH, Della Ragione F. Perrotta S, et al. Among authors: della ragione f. Haematologica. 2013 Oct;98(10):1624-32. doi: 10.3324/haematol.2013.088369. Epub 2013 May 28. Haematologica. 2013. PMID: 23716564 Free PMC article.
EPO receptor gain-of-function causes hereditary polycythemia, alters CD34 cell differentiation and increases circulating endothelial precursors.
Perrotta S, Cucciolla V, Ferraro M, Ronzoni L, Tramontano A, Rossi F, Scudieri AC, Borriello A, Roberti D, Nobili B, Cappellini MD, Oliva A, Amendola G, Migliaccio AR, Mancuso P, Martin-Padura I, Bertolini F, Yoon D, Prchal JT, Della Ragione F. Perrotta S, et al. Among authors: della ragione f. PLoS One. 2010 Aug 5;5(8):e12015. doi: 10.1371/journal.pone.0012015. PLoS One. 2010. PMID: 20700488 Free PMC article. Retracted.
Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant.
Savino M, Borriello A, D'Apolito M, Criscuolo M, Del Vecchio M, Bianco AM, Di Perna M, Calzone R, Nobili B, Zatterale A, Zelante L, Joenje H, Della Ragione F, Savoia A. Savino M, et al. Among authors: della ragione f. Hum Mutat. 2003 Oct;22(4):338-9. doi: 10.1002/humu.9180. Hum Mutat. 2003. PMID: 12955722
Erythropoietin treatment can prevent blood transfusion in infantile pyknocytosis.
Amendola G, Di Concilio R, D'Urzo G, Danise P, Parisi G, della Ragione F, Rossi F, Nobili B, Perrotta S. Amendola G, et al. Among authors: della ragione f. Br J Haematol. 2008 Nov;143(4):593-5. doi: 10.1111/j.1365-2141.2008.07344.x. Epub 2008 Sep 9. Br J Haematol. 2008. PMID: 18783402 Free article. No abstract available.
160 results