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Sylvia S Bottomley

TitleProf Emeritus
InstitutionUniversity of Oklahoma Health Sciences Center
DepartmentMedicine Hematology/Oncology
Address1122 NE 13th St
Oklahoma City OK 73117-1039
Phone405/627-1648
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    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. 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. A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. Blood. 2016 Oct 13; 128(15):1913-1917. PMID: 27488349.
      View in: PubMed
    2. 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. Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. Blood. 2015 Dec 17; 126(25):2734-8. PMID: 26491070; PMCID: PMC4683334 [Available on 12/17/16].
    3. 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. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood. 2014 Oct 30; 124(18):2867-71. PMID: 25193871; PMCID: PMC4215314.
    4. Bottomley SS, Fleming MD. Sideroblastic anemia: diagnosis and management. Hematol Oncol Clin North Am. 2014 Aug; 28(4):653-70, v. PMID: 25064706.
      View in: PubMed
    5. 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. X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. Am J Hematol. 2014 Mar; 89(3):315-9. PMID: 24166784; PMCID: PMC3943703.
    6. 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. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood. 2013 Jul 04; 122(1):112-23. PMID: 23553769; PMCID: PMC3761334.
    7. Lee PL, Reid TJ, Bottomley SS, Barton JC. Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: phenotype and genotype features of five unrelated patients. Am J Hematol. 2011 Sep; 86(9):787-9. PMID: 21800356.
      View in: PubMed
    8. Bergmann AK, Campagna DR, McLoughlin EM, Agarwal S, Fleming MD, Bottomley SS, Neufeld EJ. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatr Blood Cancer. 2010 Feb; 54(2):273-8. PMID: 19731322; PMCID: PMC2843911.
    9. Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, Lachance M, Matsuoka M, Nightingale M, Rideout A, Saint-Amant L, Schmidt PJ, Orr A, Bottomley SS, Fleming MD, Ludman M, Dyack S, Fernandez CV, Samuels ME. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet. 2009 Jun; 41(6):651-3. PMID: 19412178.
      View in: PubMed
    10. Prodan CI, Bottomley SS, Vincent AS, Cowan LD, Greenwood-Van Meerveld B, Holland NR, Lind SE. Copper deficiency after gastric surgery: a reason for caution. Am J Med Sci. 2009 Apr; 337(4):256-8. PMID: 19365170.
      View in: PubMed
    11. Martin FM, Prchal J, Nieva J, Saven A, Andrey J, Bethel K, Barton JC, Aripally G, Bottomley SS, Friedman JS. Purification and characterization of sideroblasts from patients with acquired and hereditary sideroblastic anaemia. Br J Haematol. 2008 Nov; 143(3):446-50. PMID: 18729851; PMCID: PMC2603068.
    12. Wulfert M, Küpper AC, Tapprich C, Bottomley SS, Bowen D, Germing U, Haas R, Gattermann N. Analysis of mitochondrial DNA in 104 patients with myelodysplastic syndromes. Exp Hematol. 2008 May; 36(5):577-86. PMID: 18439489.
      View in: PubMed
    13. Jackson R, Toubia N, Dhaliwal G, Bottomley SS, Bronze MS. A confusing case of confusion. Acute porphyrias. J Okla State Med Assoc. 2008 Apr; 101(4):85-6, 89-90. PMID: 18557584.
      View in: PubMed
    14. Prodan CI, Bottomley SS, Vincent AS, Cowan LD, Holland NR, Lind SE. Hypocupremia associated with prior vitamin B12 deficiency. Am J Hematol. 2007 Apr; 82(4):288-90. PMID: 16986134.
      View in: PubMed
    15. Barton JC, Lee PL, West C, Bottomley SS. Iron overload and prolonged ingestion of iron supplements: clinical features and mutation analysis of hemochromatosis-associated genes in four cases. Am J Hematol. 2006 Oct; 81(10):760-7. PMID: 16838333.
      View in: PubMed
    16. Aivado M, Gattermann N, Rong A, Giagounidis AA, Prall WC, Czibere A, Hildebrandt B, Haas R, Bottomley SS. X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. Blood Cells Mol Dis. 2006 Jul-Aug; 37(1):40-5. PMID: 16735131.
      View in: PubMed
    17. Bottomley SS. Congenital sideroblastic anemias. Curr Hematol Rep. 2006 Mar; 5(1):41-9. PMID: 16537045.
      View in: PubMed
    18. Prodan CI, Holland NR, Wisdom PJ, Bottomley SS. Myelopathy due to copper deficiency. Neurology. 2004 May 11; 62(9):1655-6; author reply 1656. PMID: 15136714.
      View in: PubMed
    19. Cox TC, Sadlon TJ, Schwarz QP, Matthews CS, Wise PD, Cox LL, Bottomley SS, May BK. The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis. Int J Biochem Cell Biol. 2004 Feb; 36(2):281-95. PMID: 14643893.
      View in: PubMed
    20. Shoolingin-Jordan PM, Al-Daihan S, Alexeev D, Baxter RL, Bottomley SS, Kahari ID, Roy I, Sarwar M, Sawyer L, Wang SF. 5-Aminolevulinic acid synthase: mechanism, mutations and medicine. Biochim Biophys Acta. 2003 Apr 11; 1647(1-2):361-6. PMID: 12686158.
      View in: PubMed
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