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X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
Campagna DR, de Bie CI, Schmitz-Abe K, Sweeney M, Sendamarai AK, Schmidt PJ, Heeney MM, Yntema HG, Kannengiesser C, Grandchamp B, Niemeyer CM, Knoers NV, Swart S, Marron G, van Wijk R, Raymakers RA, May A, Markianos K, Bottomley SS, Swinkels DW, Fleming MD. Campagna DR, et al. Among authors: heeney mm. Am J Hematol. 2014 Mar;89(3):315-9. doi: 10.1002/ajh.23616. Epub 2013 Nov 20. Am J Hematol. 2014. PMID: 24166784 Free PMC article.
Hemoglobin SE disease: a concise review.
Masiello D, Heeney MM, Adewoye AH, Eung SH, Luo HY, Steinberg MH, Chui DH. Masiello D, et al. Among authors: heeney mm. Am J Hematol. 2007 Jul;82(7):643-9. doi: 10.1002/ajh.20847. Am J Hematol. 2007. PMID: 17278112 Free article. Review.
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).
Finberg KE, Heeney MM, Campagna DR, Aydinok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD. Finberg KE, et al. Among authors: heeney mm. Nat Genet. 2008 May;40(5):569-71. doi: 10.1038/ng.130. Epub 2008 Apr 13. Nat Genet. 2008. PMID: 18408718 Free PMC article.
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).
Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Chakraborty P, Geraghty MT, Major-Cook N, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Fleming MD, Wynn RF. Wiseman DH, et al. Among authors: heeney mm. Blood. 2013 Jul 4;122(1):112-23. doi: 10.1182/blood-2012-08-439083. Epub 2013 Apr 3. Blood. 2013. PMID: 23553769 Free PMC article.
Iron-refractory iron deficiency anemia (IRIDA).
Heeney MM, Finberg KE. Heeney MM, et al. Hematol Oncol Clin North Am. 2014 Aug;28(4):637-52, v. doi: 10.1016/j.hoc.2014.04.009. Epub 2014 May 28. Hematol Oncol Clin North Am. 2014. PMID: 25064705 Review.
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, Geraghty M, Joyce PB, Markianos K, Rudner AD, Holcik M, Fleming MD. Chakraborty PK, et al. Among authors: heeney mm. Blood. 2014 Oct 30;124(18):2867-71. doi: 10.1182/blood-2014-08-591370. Epub 2014 Sep 5. Blood. 2014. PMID: 25193871 Free PMC article.
Liver iron concentration measurements by MRI in chronically transfused children with sickle cell anemia: baseline results from the TWiTCH trial.
Wood JC, Pressel S, Rogers ZR, Odame I, Kwiatkowski JL, Lee MT, Owen WC, Cohen AR, St Pierre T, Heeney MM, Schultz WH, Davis BR, Ware RE; TWiTCH Investigators. Wood JC, et al. Among authors: heeney mm. Am J Hematol. 2015 Sep;90(9):806-10. doi: 10.1002/ajh.24089. Am J Hematol. 2015. PMID: 26087998 Free PMC article. Clinical Trial.
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, Campagna DR, Rahimov F, Schilke BA, Cuijpers M, Rieneck K, Lausen B, Linenberger ML, Sendamarai AK, Guo C, Hofmann I, Newburger PE, Matthews D, Shimamura A, Snijders PJ, Towne MC, Niemeyer CM, Watson HG, Dziegiel MH, Heeney MM, May A, Bottomley SS, Swinkels DW, Markianos K, Craig EA, Fleming MD. Schmitz-Abe K, et al. Among authors: heeney mm. Blood. 2015 Dec 17;126(25):2734-8. doi: 10.1182/blood-2015-09-659854. Epub 2015 Oct 21. Blood. 2015. PMID: 26491070 Free PMC article.
97 results