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Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.
Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA. Mirabello L, et al. Among authors: alter bp. Blood. 2014 Jul 3;124(1):24-32. doi: 10.1182/blood-2013-11-540278. Epub 2014 May 14. Blood. 2014. PMID: 24829207 Free PMC article.
Cancer incidence in persons with Fanconi anemia.
Rosenberg PS, Greene MH, Alter BP. Rosenberg PS, et al. Among authors: alter bp. Blood. 2003 Feb 1;101(3):822-6. doi: 10.1182/blood-2002-05-1498. Epub 2002 Sep 5. Blood. 2003. PMID: 12393424 Free article.
Endocrine abnormalities in patients with Fanconi anemia.
Giri N, Batista DL, Alter BP, Stratakis CA. Giri N, et al. Among authors: alter bp. J Clin Endocrinol Metab. 2007 Jul;92(7):2624-31. doi: 10.1210/jc.2007-0135. Epub 2007 Apr 10. J Clin Endocrinol Metab. 2007. PMID: 17426088
310 results