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There are 2935599 results for: content related to: Telomere shortening by mutations in the RTEL1 helicase cause severe form of dyskeratosis congenita, Hoyerall-Hreidarsson syndrome

  1. You have free access to this content
    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

    Version of Record online : 4 MAY 2015, DOI: 10.1111/bjh.13442

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    Telomeres: Structures in need of unwinding

    FEBS Letters

    Volume 584, Issue 17, September 10, 2010, Pages: 3760–3772, Katrin Paeschke, Karin R. McDonald and Virginia A. Zakian

    Version of Record online : 14 JUL 2010, DOI: 10.1016/j.febslet.2010.07.007

  3. Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population

    Clinical Genetics

    Volume 88, Issue 2, August 2015, Pages: 177–181, A.M. Fedick, L. Shi, C. Jalas, N.R. Treff, J. Ekstein, R. Kornreich, L. Edelmann, L. Mehta and S.A. Savage

    Version of Record online : 5 SEP 2014, DOI: 10.1111/cge.12459

  4. 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

    Version of Record online : 7 APR 2016, DOI: 10.1111/imj.12868

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    The association of telomere length and genetic variation in telomere biology genes

    Human Mutation

    Volume 31, Issue 9, September 2010, Pages: 1050–1058, Lisa Mirabello, Kai Yu, Peter Kraft, Immaculata De Vivo, David J. Hunter, Jennifer Prescott, Jason Y.Y. Wong, Nilanjan Chatterjee, Richard B. Hayes and Sharon A. Savage

    Version of Record online : 1 JUL 2010, DOI: 10.1002/humu.21314

  6. You have full text access to this Open Access content
    The relationship between DNA methylation and telomere length in dyskeratosis congenita

    Aging Cell

    Volume 11, Issue 1, February 2012, Pages: 24–28, Shahinaz M. Gadalla, Hormuzd A. Katki, Fatma M. Shebl, Neelam Giri, Blanche P. Alter and Sharon A. Savage

    Version of Record online : 15 NOV 2011, DOI: 10.1111/j.1474-9726.2011.00755.x

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    Metabolism of postsynaptic recombination intermediates

    FEBS Letters

    Volume 584, Issue 17, September 10, 2010, Pages: 3709–3716, Carrie A. Adelman and Simon J. Boulton

    Version of Record online : 21 MAY 2010, DOI: 10.1016/j.febslet.2010.05.023

  8. An evolutionary review of human telomere biology: The thrifty telomere hypothesis and notes on potential adaptive paternal effects

    American Journal of Human Biology

    Volume 23, Issue 2, March/April 2011, Pages: 149–167, Dan T.A. Eisenberg

    Version of Record online : 17 DEC 2010, DOI: 10.1002/ajhb.21127

  9. 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

    Version of Record online : 21 MAY 2010, DOI: 10.1016/j.febslet.2010.05.019

  10. Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain

    Human Mutation

    Volume 37, Issue 5, May 2016, Pages: 469–472, Laurent Jullien, Caroline Kannengiesser, Laetitia Kermasson, Valérie Cormier-Daire, Thierry Leblanc, Jean Soulier, Arturo Londono-Vallejo, Jean-Pierre de Villartay, Isabelle Callebaut and Patrick Revy

    Version of Record online : 23 FEB 2016, DOI: 10.1002/humu.22966

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    Molecular mechanisms of ageing and related diseases

    Clinical and Experimental Pharmacology and Physiology

    Volume 41, Issue 7, July 2014, Pages: 445–458, Jun-Ping Liu

    Version of Record online : 8 JUL 2014, DOI: 10.1111/1440-1681.12247

  12. The genomics of inherited bone marrow failure: from mechanism to the clinic

    British Journal of Haematology

    Talia Wegman-Ostrosky and Sharon A. Savage

    Version of Record online : 17 FEB 2017, DOI: 10.1111/bjh.14535

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    Biology of telomeres: lessons from budding yeast

    FEMS Microbiology Reviews

    Volume 38, Issue 2, March 2014, Pages: 144–171, Martin Kupiec

    Version of Record online : 8 JAN 2014, DOI: 10.1111/1574-6976.12054

  14. The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains Harmonin-N-like domains

    Proteins: Structure, Function, and Bioinformatics

    Volume 82, Issue 6, June 2014, Pages: 897–903, Guilhem Faure, Patrick Revy, Michael Schertzer, Arturo Londono-Vallejo and Isabelle Callebaut

    Version of Record online : 22 NOV 2013, DOI: 10.1002/prot.24438

  15. Deficiency in DNA mismatch repair increases the rate of telomere shortening in normal human cells

    Human Mutation

    Volume 32, Issue 8, August 2011, Pages: 939–946, Aaron Mendez-Bermudez and Nicola J. Royle

    Version of Record online : 26 JUL 2011, DOI: 10.1002/humu.21522

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    Response to androgen therapy in patients with dyskeratosis congenita

    British Journal of Haematology

    Volume 165, Issue 3, May 2014, Pages: 349–357, Payal P. Khincha, Ingrid M. Wentzensen, Neelam Giri, Blanche P. Alter and Sharon A. Savage

    Version of Record online : 12 FEB 2014, DOI: 10.1111/bjh.12748

  17. You have full text access to this OnlineOpen article
    The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita

    Molecular Genetics & Genomic Medicine

    Volume 4, Issue 4, July 2016, Pages: 475–479, Shahinaz M. Gadalla, Payal P. Khincha, Hormuzd A. Katki, Neelam Giri, Jason Y. Y. Wong, Stephen Spellman, Jack A. Yanovski, Joan C. Han, Immaculata De Vivo, Blanche P. Alter and Sharon A. Savage

    Version of Record online : 20 MAR 2016, DOI: 10.1002/mgg3.220

  18. Establishment of conditional knockout alleles for the gene encoding the regulator of telomere length (RTEL)

    genesis

    Volume 45, Issue 12, December 2007, Pages: 788–792, Xiaoli Wu, Sumit Sandhu and Hao Ding

    Version of Record online : 6 DEC 2007, DOI: 10.1002/dvg.20359

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    Changes of telomere status with aging: An update

    Geriatrics & Gerontology International

    Volume 16, Issue S1, March 2016, Pages: 30–42, Naoshi Ishikawa, Ken-Ichi Nakamura, Naotaka Izumiyama-Shimomura, Junko Aida, Yoko Matsuda, Tomio Arai and Kaiyo Takubo

    Version of Record online : 28 MAR 2016, DOI: 10.1111/ggi.12772

  20. Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood

    Clinical Genetics

    Volume 81, Issue 5, May 2012, Pages: 470–478, GS Sasa, A Ribes-Zamora, ND Nelson and AA Bertuch

    Version of Record online : 7 APR 2011, DOI: 10.1111/j.1399-0004.2011.01658.x