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Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A. Uda M, et al. Among authors: galanello r. Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1620-5. doi: 10.1073/pnas.0711566105. Epub 2008 Feb 1. Proc Natl Acad Sci U S A. 2008. PMID: 18245381 Free PMC article.
Amelioration of Sardinian beta0 thalassemia by genetic modifiers.
Galanello R, Sanna S, Perseu L, Sollaino MC, Satta S, Lai ME, Barella S, Uda M, Usala G, Abecasis GR, Cao A. Galanello R, et al. Blood. 2009 Oct 29;114(18):3935-7. doi: 10.1182/blood-2009-04-217901. Epub 2009 Aug 20. Blood. 2009. PMID: 19696200 Free PMC article.
Beta-thalassemia.
Cao A, Galanello R. Cao A, et al. Among authors: galanello r. Genet Med. 2010 Feb;12(2):61-76. doi: 10.1097/GIM.0b013e3181cd68ed. Genet Med. 2010. PMID: 20098328 Free article. Review.
Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.
Danjou F, Zoledziewska M, Sidore C, Steri M, Busonero F, Maschio A, Mulas A, Perseu L, Barella S, Porcu E, Pistis G, Pitzalis M, Pala M, Menzel S, Metrustry S, Spector TD, Leoni L, Angius A, Uda M, Moi P, Thein SL, Galanello R, Abecasis GR, Schlessinger D, Sanna S, Cucca F. Danjou F, et al. Among authors: galanello r. Nat Genet. 2015 Nov;47(11):1264-71. doi: 10.1038/ng.3307. Epub 2015 Sep 14. Nat Genet. 2015. PMID: 26366553 Free PMC article.
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
Sanna S, Busonero F, Maschio A, McArdle PF, Usala G, Dei M, Lai S, Mulas A, Piras MG, Perseu L, Masala M, Marongiu M, Crisponi L, Naitza S, Galanello R, Abecasis GR, Shuldiner AR, Schlessinger D, Cao A, Uda M. Sanna S, et al. Among authors: galanello r. Hum Mol Genet. 2009 Jul 15;18(14):2711-8. doi: 10.1093/hmg/ddp203. Epub 2009 May 6. Hum Mol Genet. 2009. PMID: 19419973 Free PMC article.
Recent advances in β-thalassemias.
Cao A, Moi P, Galanello R. Cao A, et al. Among authors: galanello r. Pediatr Rep. 2011 Jun 16;3(2):e17. doi: 10.4081/pr.2011.e17. Pediatr Rep. 2011. PMID: 21772954 Free PMC article.
KLF1 gene mutations cause borderline HbA(2).
Perseu L, Satta S, Moi P, Demartis FR, Manunza L, Sollaino MC, Barella S, Cao A, Galanello R. Perseu L, et al. Among authors: galanello r. Blood. 2011 Oct 20;118(16):4454-8. doi: 10.1182/blood-2011-04-345736. Epub 2011 Aug 5. Blood. 2011. PMID: 21821711 Free article.
258 results