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There are 2478 results for: content related to: Dyskeratosis congenita: a genetic disorder of many faces

  1. Unraveling the pathogenesis of Hoyeraal–Hreidarsson syndrome, a complex telomere biology disorder

    British Journal of Haematology

    Volume 170, Issue 4, August 2015, Pages: 457–471, Galina Glousker, Fabien Touzot, Patrick Revy, Yehuda Tzfati and Sharon A. Savage

    Article first published online : 4 MAY 2015, DOI: 10.1111/bjh.13442

  2. Dyskeratosis congenita: clinical report and review of the literature

    International Journal of Dental Hygiene

    Volume 8, Issue 1, February 2010, Pages: 68–74, I Baran, R Nalcaci and M Kocak

    Article first published online : 11 JUN 2009, DOI: 10.1111/j.1601-5037.2009.00364.x

  3. You have free access to this content
    Dyskeratosis congenita in all its forms

    British Journal of Haematology

    Volume 110, Issue 4, September 2000, Pages: 768–779, Inderjeet Dokal

    Article first published online : 24 DEC 2001, DOI: 10.1046/j.1365-2141.2000.02109.x

  4. You have free access to this content
    Advances in the understanding of dyskeratosis congenita

    British Journal of Haematology

    Volume 145, Issue 2, April 2009, Pages: 164–172, Amanda J. Walne and Inderjeet Dokal

    Article first published online : 4 FEB 2009, DOI: 10.1111/j.1365-2141.2009.07598.x

  5. Dyskeratosis congenita: Advances in the understanding of the telomerase defect and the role of stem cell transplantation

    Pediatric Transplantation

    Volume 11, Issue 6, September 2007, Pages: 584–594, Josu De La Fuente and Inderjeet Dokal

    Article first published online : 27 JUL 2007, DOI: 10.1111/j.1399-3046.2007.00721.x

  6. Congenital Epidermal Hypermelanoses

    The Pigmentary System: Physiology and Pathophysiology, Second Edition

    Susan Bayliss Mallory, Peggy L. Chern, Sharon A. Foley, Pages: 898–906, 2007

    Published Online : 26 OCT 2007, DOI: 10.1002/9780470987100.ch49

  7. Rothmund–Thomson Syndrome, Bloom Syndrome, Dyskeratosis Congenita, Fanconi Anaemia

    Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

    Alan D. Irvine, Peter H. Hoeger, Albert C. Yan, Pages: 136.1–136.13, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch136

  8. The wide-ranging clinical implications of the short telomere syndromes

    Internal Medicine Journal

    Volume 46, Issue 4, April 2016, Pages: 393–403, P. M. Barbaro, D. S. Ziegler and R. R. Reddel

    Article first published online : 7 APR 2016, DOI: 10.1111/imj.12868

  9. The Inherited Bone Marrow Failure Syndromes: Fanconi Anemia, Dyskeratosis Congenita and Diamond-Blackfan Anemia

    Reviews in Clinical and Experimental Hematology

    Volume 4, Issue 3, September 2000, Pages: 183–215, Inderjeet Dokal

    Article first published online : 25 DEC 2001, DOI: 10.1046/j.1468-0734.2000.00015.x

  10. You have free access to this content
    Dyskeratosis congenita

    FEBS Letters

    Volume 584, Issue 17, September 10, 2010, Pages: 3831–3838, Monica Bessler, David B. Wilson and Philip J. Mason

    Article first published online : 21 MAY 2010, DOI: 10.1016/j.febslet.2010.05.019

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    Proliferative defects in dyskeratosis congenita skin keratinocytes are corrected by expression of the telomerase reverse transcriptase, TERT, or by activation of endogenous telomerase through expression of papillomavirus E6/E7 or the telomerase RNA component, TERC

    Experimental Dermatology

    Volume 19, Issue 3, March 2010, Pages: 279–288, Francoise A. Gourronc, Mckaylee M. Robertson, Annie K. Herrig, Peter M. Lansdorp, Frederick D. Goldman and Aloysius J. Klingelhutz

    Article first published online : 23 JUN 2009, DOI: 10.1111/j.1600-0625.2009.00916.x

  12. Warty dyskeratoma/focal acantholytic dyskeratosis – an update on a rare oral lesion

    Journal of Oral Pathology & Medicine

    Volume 41, Issue 3, March 2012, Pages: 261–267, Irit Allon and Amos Buchner

    Article first published online : 21 SEP 2011, DOI: 10.1111/j.1600-0714.2011.01082.x

  13. Genetics of Dyskeratosis Congenita

    Standard Article


    Philip J Mason, Dara Reeves and Nieves Perdigones

    Published Online : 15 FEB 2013, DOI: 10.1002/9780470015902.a0024269

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    Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients

    British Journal of Haematology

    Volume 144, Issue 5, March 2009, Pages: 771–781, Michael Kirwan, Richard Beswick, Tom Vulliamy, Amit C. Nathwani, Amanda J. Walne, Colin Casimir and Inderjeet Dokal

    Article first published online : 21 NOV 2008, DOI: 10.1111/j.1365-2141.2008.07516.x

  15. Inherited Bone Marrow Failure Syndromes

    Pediatric Hematology, Third Edition

    Robert J. Arceci, Ian M. Hann, Owen P. Smith, Pages: 30–63, 2007

    Published Online : 4 OCT 2007, DOI: 10.1002/9780470987001.ch3

  16. Dyskeratosis congenita with linear areas of severe cutaneous involvement

    American Journal of Medical Genetics

    Volume 75, Issue 5, 17 February 1998, Pages: 492–496, Eulalia Baselga, Beth A. Drolet, Peter van Tuinen, Nancy B. Esterly and Rudolf Happle

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19980217)75:5<492::AID-AJMG7>3.0.CO;2-P

  17. Oral Focal Acantholytic Dyskeratosis

    The Journal of Dermatologic Surgery and Oncology

    Volume 16, Issue 6, June 1990, Pages: 510–515, SUSAN L. ZUNT and CHARLES E. TOMICH

    Article first published online : 21 JUN 2013, DOI: 10.1111/j.1524-4725.1990.tb00072.x

  18. Chromosome abnormalities in cell cultures derived from the leukoplakia of a female patient with dyskeratosis congenita

    American Journal of Medical Genetics

    Volume 42, Issue 2, 15 January 1992, Pages: 217–218, Hildegard Kehrer, Winfrid Krone and Dr. Bruno Dallapiccola

    Article first published online : 8 JUN 2005, DOI: 10.1002/ajmg.1320420219

  19. Dyskeratosis Congenita Associated with Elevated Fetal Hemoglobin, X-Linked Ocular Albinism, and Juvenile-Onset Diabetes Mellitus

    Pediatric Dermatology

    Volume 9, Issue 2, June 1992, Pages: 103–106, Martin Reichel, Arthur C. Grix and R. Rivkah Isseroff

    Article first published online : 20 MAR 2008, DOI: 10.1111/j.1525-1470.1992.tb01223.x

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    The gastrointestinal manifestations of telomere-mediated disease

    Aging Cell

    Volume 12, Issue 2, April 2013, Pages: 319–323, Naudia L. Jonassaint, Nini Guo, Joseph A. Califano, Elizabeth A. Montgomery and Mary Armanios

    Article first published online : 4 JAN 2013, DOI: 10.1111/acel.12041