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There are 19884 results for: content related to: Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood

  1. You have full text access to this OnlineOpen article
    Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2

    Clinical Genetics

    Volume 81, Issue 1, January 2012, Pages: 76–81, T Vulliamy, R Beswick, MJ Kirwan, U Hossain, AJ Walne and I Dokal

    Version of Record online : 4 JAN 2011, DOI: 10.1111/j.1399-0004.2010.01605.x

  2. You have free access to this content
    Regulation of the Neurofibromatosis 2 gene promoter expression during embryonic development

    Developmental Dynamics

    Volume 235, Issue 10, October 2006, Pages: 2771–2785, Elena M. Akhmametyeva, Maria M. Mihaylova, Huijun Luo, Sadeq Kharzai, D. Bradley Welling and Long-Sheng Chang

    Version of Record online : 7 AUG 2006, DOI: 10.1002/dvdy.20883

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    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

  4. Inactivation of Merlin in malignant mesothelioma cells and the Hippo signaling cascade dysregulation

    Pathology International

    Volume 61, Issue 6, June 2011, Pages: 331–344, Yoshitaka Sekido

    Version of Record online : 2 MAY 2011, DOI: 10.1111/j.1440-1827.2011.02666.x

  5. CpG island hypermethylation of the neurofibromatosis type 2 (NF2) gene is rare in sporadic vestibular schwannomas

    Neuropathology and Applied Neurobiology

    Volume 36, Issue 6, October 2010, Pages: 505–514, P. J. Kullar, D. M. Pearson, D. S. Malley, V. P. Collins and K. Ichimura

    Version of Record online : 14 MAY 2010, DOI: 10.1111/j.1365-2990.2010.01090.x

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    Medicago truncatula DNF2 is a PI-PLC-XD-containing protein required for bacteroid persistence and prevention of nodule early senescence and defense-like reactions

    New Phytologist

    Volume 197, Issue 4, March 2013, Pages: 1250–1261, Marie Bourcy, Lysiane Brocard, Catalina I. Pislariu, Viviane Cosson, Peter Mergaert, Millon Tadege, Kirankumar S. Mysore, Michael K. Udvardi, Benjamin Gourion and Pascal Ratet

    Version of Record online : 27 DEC 2012, DOI: 10.1111/nph.12091

  7. Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing

    Genes, Chromosomes and Cancer

    Volume 54, Issue 8, August 2015, Pages: 482–488, Melanie Spyra, Benjamin Otto, Gerhard Schön, Hildegard Kehrer-Sawatzki and Victor-Felix Mautner

    Version of Record online : 29 MAY 2015, DOI: 10.1002/gcc.22259

  8. 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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    correspondence: Identification of TINF2 gene mutations in adult Japanese patients with acquired bone marrow failure syndromes

    British Journal of Haematology

    Volume 150, Issue 6, September 2010, Pages: 725–727, Hiroki Yamaguchi, Koiti Inokuchi, Junko Takeuchi, Hayato Tamai, Yoshio Mitamura, Fumiko Kosaka, Hinh Ly and Kazuo Dan

    Version of Record online : 2 SEP 2010, DOI: 10.1111/j.1365-2141.2010.08278.x

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    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

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    The Swi/Snf chromatin remodeling complex is essential for hyphal development in Candida albicans

    FEBS Letters

    Volume 580, Issue 11, May 15, 2006, Pages: 2615–2622, Xuming Mao, Fang Cao, Xinyi Nie, Haoping Liu and Jiangye Chen

    Version of Record online : 21 APR 2006, DOI: 10.1016/j.febslet.2006.04.009

  12. NF2: The wizardry of merlin

    Genes, Chromosomes and Cancer

    Volume 38, Issue 4, December 2003, Pages: 389–399, Guang-Hui Xiao, Jonathan Chernoff and Joseph R. Testa

    Version of Record online : 8 OCT 2003, DOI: 10.1002/gcc.10282

  13. An evolutionary conserved zinc finger protein is involved in Toxoplasma gondii mRNA nuclear export

    Cellular Microbiology

    Mathieu Gissot, Agnès Hovasse, Laurent Chaloin, Christine Schaeffer-Reiss, Alain Van Dorsselaer and Stanislas Tomavo

    Version of Record online : 26 JUL 2016, DOI: 10.1111/cmi.12644

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    Identification of the cis-acting region in the NF2 gene promoter as a potential target for mutation and methylation-dependent silencing in schwannoma

    Genes to Cells

    Volume 6, Issue 5, May 2001, Pages: 441–454, Takeshi Kino, Hideo Takeshima, Mitsuyoshi Nakao, Toru Nishi, Keizo Yamamoto, Takahiro Kimura, Yoshiki Saito, Masato Kochi, Jun-ichi Kuratsu, Hideyuki Saya and Yukitaka Ushio

    Version of Record online : 20 DEC 2001, DOI: 10.1046/j.1365-2443.2001.00432.x

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    Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 24–41, Jaishri O. Blakeley, D. Gareth Evans, John Adler, Derald Brackmann, Ruihong Chen, Rosalie E. Ferner, C. Oliver Hanemann, Gordon Harris, Susan M. Huson, Abraham Jacob, Michel Kalamarides, Matthias A. Karajannis, Bruce R. Korf, Victor-Felix Mautner, Andrea I. McClatchey, Harry Miao, Scott R. Plotkin, William Slattery III, Anat O. Stemmer-Rachamimov, D. Bradley Welling, Patrick Y. Wen, Brigitte Widemann, Kim Hunter-Schaedle and Marco Giovannini

    Version of Record online : 2 DEC 2011, DOI: 10.1002/ajmg.a.34359

  16. Neurofibromatosis Type 2 Clinics and Genetics

    Standard Article


    Lan Kluwe and Victor-F Mautner

    Published Online : 15 SEP 2010, DOI: 10.1002/9780470015902.a0022391

  17. NF2 gene expression in sporadic meningiomas: Relation to grades or histotypes real time-PCR study


    Volume 27, Issue 1, February 2007, Pages: 36–42, Anna M. Buccoliero, Francesca Castiglione, Duccio R. Degl’Innocenti, Chiara F. Gheri, Francesca Garbini, Antonio Taddei, Franco Ammannati, Pasquale Mennonna and Gian L. Taddei

    Version of Record online : 25 JAN 2007, DOI: 10.1111/j.1440-1789.2006.00737.x

  18. RNF2 is the target for phosphorylation by the p38 MAPK and ERK signaling pathways


    Volume 9, Issue 10, No. 10 May 2009, Pages: 2776–2787, Prema S. Rao, Arun Satelli, Sheng Zhang, Sanjay K. Srivastava, Kalkunte S. Srivenugopal and U. Subrahmanyeswara Rao

    Version of Record online : 29 APR 2009, DOI: 10.1002/pmic.200800847

  19. Calpain-dependent proteolysis of NF2 protein: Involvement in schwannomas and meningiomas


    Volume 20, Issue 3, September 2000, Pages: 153–160, Yoriyoshi Kimura, Hideyuki Saya and Mitsuyoshi Nakao

    Version of Record online : 25 DEC 2001, DOI: 10.1046/j.1440-1789.2000.00326.x

  20. Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2

    The Journal of Pathology

    Volume 198, Issue 1, September 2002, Pages: 14–20, Dr Chi-Chao Chan, Christian A. Koch, Muriel I. Kaiser-Kupfer, Dilys M. Parry, David H. Gutmann, Zhengping Zhuang and Alexander O. Vortmeyer

    Version of Record online : 10 JUN 2002, DOI: 10.1002/path.1174