Center-Authored Papers

Filters: Author is Shimamura, Akiko  [Clear All Filters]
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Myers KC, Bolyard AA, Otto B, Wong TE, Jones AT, Harris RE, Davies SM, Dale DC, Shimamura A.  2014.  Variable Clinical Presentation of Shwachman-Diamond Syndrome: Update from the North American Shwachman-Diamond Syndrome Registry.. The Journal of pediatrics. 164(4):866-70. Abstract
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Burroughs LM, Nemecek ER, Torgerson TR, Storer BE, Talano J-A, Domm J, Giller RH, Shimamura A, Delaney C, Skoda-Smith S et al..  2014.  Treosulfan-based conditioning and hematopoietic cell transplantation for nonmalignant diseases: a prospective multicenter trial.. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation. 20(12):1996-2003. Abstract
Du H-Y, Pumbo E, Ivanovich J, An P, Maziarz RT, Reiss UM, Chirnomas D, Shimamura A, Vlachos A, Lipton JM et al..  2009.  TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.. Blood. 113(2):309-16. Abstract
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Rosenberg PS, Zeidler C, Bolyard AA, Alter BP, Bonilla MA, Boxer LA, Dror Y, Kinsey S, Link DC, Newburger PE et al..  2010.  Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy.. British journal of haematology. 150(2):196-9. Abstract
Stumpff J, Ghule PN, Shimamura A, Stein JL, Greenblatt M.  2014.  Spindle microtubule dysfunction and cancer predisposition.. Journal of cellular physiology. Abstract
Marro K, Otto R, Kolokythas O, Shimamura A, Sanders JE, McDonald GB, Friedman SD.  2011.  A simulation-based comparison of two methods for determining relaxation rates from relaxometry images.. Magnetic resonance imaging. 29(4):497-506. Abstract
Burroughs LM, Woolfrey AE, Shimamura A.  2009.  Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.. Hematology/oncology clinics of North America. 23(2):233-48. Abstract
Scott A, Glover J, Skoda-Smith S, Torgerson TR, Xu M, Burroughs LM, Woolfrey AE, Fleming MD, Shimamura A.  2015.  Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia.. Pediatric blood & cancer. Abstract
Wong TE, Calicchio ML, Fleming MD, Shimamura A, Harris MH.  2010.  SBDS protein expression patterns in the bone marrow.. Pediatric blood & cancer. 55(3):546-9. Abstract
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Ganapathi KA, Shimamura A.  2008.  Ribosomal dysfunction and inherited marrow failure.. British journal of haematology. 141(3):376-87. Abstract
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Becker PS, Taylor JA, Trobridge GD, Zhao X, Beard BC, Chien S, Adair J, Kohn DB, Wagner JE, Shimamura A et al..  2010.  Preclinical correction of human Fanconi anemia complementation group A bone marrow cells using a safety-modified lentiviral vector.. Gene therapy. 17(10):1244-52. Abstract
Tulpule A, Kelley JM, Lensch WM, McPherson J, Park IH, Hartung O, Nakamura T, Schlaeger TM, Shimamura A, Daley GQ.  2013.  Pluripotent stem cell models of shwachman-diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction.. Cell stem cell. 12(6):727-36. Abstract
Shimamura A, Alter BP.  2010.  Pathophysiology and management of inherited bone marrow failure syndromes.. Blood reviews. 24(3):101-22. Abstract
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Lewinsohn M, Brown AL, Weinel LM, Phung C, Rafidi G, Lee MK, Schreiber AW, Feng J, Babic M, Chong C-E et al..  2015.  Novel germline DDX41 mutations define families with a lower age of MDS/AML onset, and lymphoid malignancies.. Blood. Abstract
Burwick N, Shimamura A, Liu JM.  2011.  Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome.. Seminars in hematology. 48(2):136-43. Abstract
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Austin KM, Gupta ML, Coats SA, Tulpule A, Mostoslavsky G, Balazs AB, Mulligan RC, Daley G, Pellman D, Shimamura A.  2008.  Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome.. The Journal of clinical investigation. 118(4):1511-8. Abstract
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Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J, Hsu AP, Dyack S, Fernandez CV, Chong C-E et al..  2012.  Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.. Blood. 119(5):1283-1291. Abstract
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Tulpule A, Lensch WM, Miller JD, Austin K, D'andrea A, Schlaeger TM, Shimamura A, Daley GQ.  2010.  Knockdown of Fanconi anemia genes in human embryonic stem cells reveals early developmental defects in the hematopoietic lineage.. Blood. 115(17):3453-62. Abstract
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Burwick N, Coats SA, Nakamura T, Shimamura A.  2012.  Impaired ribosomal subunit association in Shwachman-Diamond syndrome.. Blood. Abstract
Rojek K, Nickels E, Neistadt B, Marquez R, Wickrema A, Artz A, van Besien K, Larson RA, Lee MK, Segal JP et al..  2016.  Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy.. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation. Abstract
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Parmar K, Kim J, Sykes SM, Shimamura A, Stuckert P, Zhu K, Hamilton A, Deloach MK, Kutok JL, Akashi K et al..  2010.  Hematopoietic stem cell defects in mice with deficiency of Fancd2 or Usp1.. Stem cells (Dayton, Ohio). 28(7):1186-95. Abstract
Bellodi C, McMahon M, Contreras A, Juliano D, Kopmar N, Nakamura T, Maltby D, Burlingame A, Savage SA, Shimamura A et al..  2013.  H/ACA Small RNA Dysfunctions in Disease Reveal Key Roles for Noncoding RNA Modifications in Hematopoietic Stem Cell Differentiation.. Cell reports. 3(5):1493-502. Abstract
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Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, Gulsuner S, Pritchard CC, Sanchez-Bonilla M, Delrow JJ et al..  2015.  Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.. Nature genetics. 47(2):180-5. Abstract
Topka S, Vijai J, Walsh MF, Jacobs L, Maria A, Villano D, Gaddam P, Wu G, McGee RB, Quinn E et al..  2015.  Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.. PLoS genetics. 11(6):e1005262. Abstract
Keel SB, Scott A, Sanchez-Bonilla M, Ho PA, Gulsuner S, Pritchard CC, Abkowitz JL, King M-C, Walsh T, Shimamura A.  2016.  Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.. Haematologica. Abstract