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259 results

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Page 1
Association of unbalanced translocation der(1;7) with germline GATA2 mutations.
Kozyra EJ, Göhring G, Hickstein DD, Calvo KR, DiNardo CD, Dworzak M, de Haas V, Starý J, Hasle H, Shimamura A, Fleming MD, Inaba H, Lewis S, Hsu AP, Holland SM, Arnold DE, Mecucci C, Keel SB, Bertuch AA, Tawana K, Barzilai S, Hirabayashi S, Onozawa M, Lei S, Alaiz H, Andrikovics H, Betts D, Beverloo BH, Buechner J, Čermák M, Cervera J, Haus O, Jahnukainen K, Manola KN, Nebral K, Pasquali F, Tchinda J, Turkiewicz D, Van Roy N, Zemanova Z, Pastor VB, Strahm B, Noellke P, Niemeyer CM, Schlegelberger B, Yoshimi A, Wlodarski MW. Kozyra EJ, et al. Among authors: fleming md. Blood. 2021 Dec 9;138(23):2441-2445. doi: 10.1182/blood.2021012781. Blood. 2021. PMID: 34469508 Free PMC article. No abstract available.
The molecular defect in hypotransferrinemic mice.
Trenor CC 3rd, Campagna DR, Sellers VM, Andrews NC, Fleming MD. Trenor CC 3rd, et al. Among authors: fleming md. Blood. 2000 Aug 1;96(3):1113-8. Blood. 2000. PMID: 10910930 Free article.
X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation.
Tubman VN, Levine JE, Campagna DR, Monahan-Earley R, Dvorak AM, Neufeld EJ, Fleming MD. Tubman VN, et al. Among authors: fleming md. Blood. 2007 Apr 15;109(8):3297-9. doi: 10.1182/blood-2006-02-004101. Epub 2007 Jan 5. Blood. 2007. PMID: 17209061 Free article.
Recurrent BRAF mutations in Langerhans cell histiocytosis.
Badalian-Very G, Vergilio JA, Degar BA, MacConaill LE, Brandner B, Calicchio ML, Kuo FC, Ligon AH, Stevenson KE, Kehoe SM, Garraway LA, Hahn WC, Meyerson M, Fleming MD, Rollins BJ. Badalian-Very G, et al. Among authors: fleming md. Blood. 2010 Sep 16;116(11):1919-23. doi: 10.1182/blood-2010-04-279083. Epub 2010 Jun 2. Blood. 2010. PMID: 20519626 Free PMC article.
SBDS protein expression patterns in the bone marrow.
Wong TE, Calicchio ML, Fleming MD, Shimamura A, Harris MH. Wong TE, et al. Among authors: fleming md. Pediatr Blood Cancer. 2010 Sep;55(3):546-9. doi: 10.1002/pbc.22573. Pediatr Blood Cancer. 2010. PMID: 20658628 Free PMC article.
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: fleming md. 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.
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.
Zhang MY, Keel SB, Walsh T, Lee MK, Gulsuner S, Watts AC, Pritchard CC, Salipante SJ, Jeng MR, Hofmann I, Williams DA, Fleming MD, Abkowitz JL, King MC, Shimamura A. Zhang MY, et al. Among authors: fleming md. Haematologica. 2015 Jan;100(1):42-8. doi: 10.3324/haematol.2014.113456. Epub 2014 Sep 19. Haematologica. 2015. PMID: 25239263 Free PMC article.
Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia.
Scott A, Glover J, Skoda-Smith S, Torgerson TR, Xu M, Burroughs LM, Woolfrey AE, Fleming MD, Shimamura A. Scott A, et al. Among authors: fleming md. Pediatr Blood Cancer. 2015 Nov;62(11):2047-9. doi: 10.1002/pbc.25587. Epub 2015 May 22. Pediatr Blood Cancer. 2015. PMID: 26011426 Free PMC article.
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: fleming md. 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.
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.
Lichtenstein DA, Crispin AW, Sendamarai AK, Campagna DR, Schmitz-Abe K, Sousa CM, Kafina MD, Schmidt PJ, Niemeyer CM, Porter J, May A, Patnaik MM, Heeney MM, Kimmelman A, Bottomley SS, Paw BH, Markianos K, Fleming MD. Lichtenstein DA, et al. Among authors: fleming md. Blood. 2016 Oct 13;128(15):1913-1917. doi: 10.1182/blood-2016-05-719062. Epub 2016 Aug 3. Blood. 2016. PMID: 27488349 Free PMC article.
259 results