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There are 15962 results for: content related to: A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome

  1. Cockayne syndrome: Review of 140 cases

    American Journal of Medical Genetics

    Volume 42, Issue 1, 1 January 1992, Pages: 68–84, M.D. Martha A. Nance and Susan A. Berry

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320420115

  2. Cockayne syndrome in three sisters with varying clinical presentation

    American Journal of Medical Genetics

    Volume 111, Issue 1, 22 July 2002, Pages: 81–85, Adel A.H. Mahmoud, George M. Yousef, Ibrahim Al-Hifzi and Eleftherios P. Diamandis

    Version of Record online : 17 JUN 2002, DOI: 10.1002/ajmg.10492

  3. Aortic dilatation in Cockayne syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 21, 1 November 2007, Pages: 2604–2606, Caroline Ovaert, Aline Cano and Brigitte Chabrol

    Version of Record online : 12 OCT 2007, DOI: 10.1002/ajmg.a.31986

  4. Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome

    American Journal of Medical Genetics Part A

    Volume 170, Issue 3, March 2016, Pages: 773–776, Brian T. Wilson, Anneline Lochan, Zornitza Stark and Ruth E. Sutton

    Version of Record online : 8 JAN 2016, DOI: 10.1002/ajmg.a.37501

  5. Cockayne syndrome type III with high intelligence

    Clinical Genetics

    Volume 48, Issue 6, December 1995, Pages: 331–333, Andrew E. Czeizel and Márta Marchalkó

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1995.tb04121.x

  6. You have full text access to this Open Access content
    An altered redox balance mediates the hypersensitivity of Cockayne syndrome primary fibroblasts to oxidative stress

    Aging Cell

    Volume 11, Issue 3, June 2012, Pages: 520–529, Barbara Pascucci, Tiziana Lemma, Egidio Iorio, Sara Giovannini, Bruno Vaz, Ivano Iavarone, Angelo Calcagnile, Laura Narciso, Paolo Degan, Franca Podo, Vera Roginskya, Bratislav M. Janjic, Bennett Van Houten, Miria Stefanini, Eugenia Dogliotti and Mariarosaria D’Errico

    Version of Record online : 5 APR 2012, DOI: 10.1111/j.1474-9726.2012.00815.x

  7. Woman with UV hypersensitivity and a de novo unbalanced chromosome translocation

    American Journal of Medical Genetics

    Volume 101, Issue 2, 15 June 2001, Pages: 153–157, Keiko Akahoshi, Shin-Ichi Moriwaki, Satoshi Kimiya, Isamu Takahashi and Yoshimitsu Fukushima

    Version of Record online : 26 APR 2001, DOI: 10.1002/ajmg.1334

  8. You have full text access to this Open Access content
    BRCA1 contributes to transcription-coupled repair of DNA damage through polyubiquitination and degradation of Cockayne syndrome B protein

    Cancer Science

    Volume 102, Issue 10, October 2011, Pages: 1840–1847, Leizhen Wei, Li Lan, Akira Yasui, Kiyoji Tanaka, Masafumi Saijo, Ayako Matsuzawa, Risa Kashiwagi, Emiko Maseki, Yiheng Hu, Jeffrey D. Parvin, Chikashi Ishioka and Natsuko Chiba

    Version of Record online : 17 AUG 2011, DOI: 10.1111/j.1349-7006.2011.02037.x

  9. Xeroderma Pigmentosum, Cockayne Syndrome and Trichothiodystrophy

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

    Alan D. Irvine, Peter H. Hoeger, Albert C. Yan, Pages: 135.1–135.24, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch135

  10. Cockayne syndrome with early onset of manifestations

    American Journal of Medical Genetics

    Volume 13, Issue 2, October 1982, Pages: 225–230, Donna B. Moyer, Dr. Paul Marquis, Mark E. Shertzer, Barbara K. Burton and John M. Opitz

    Version of Record online : 2 JUN 2005, DOI: 10.1002/ajmg.1320130213

  11. You have full text access to this Open Access content
    Downregulation of Cockayne syndrome B protein reduces human 8-oxoguanine DNA glycosylase-1 expression and repair of UV radiation-induced 8-oxo-7,8-dihydro-2′-deoxyguanine

    Cancer Science

    Volume 102, Issue 9, September 2011, Pages: 1651–1658, Arash Javeri, James Guy Lyons, Xiao X. Huang and Gary M. Halliday

    Version of Record online : 18 JUL 2011, DOI: 10.1111/j.1349-7006.2011.02005.x

  12. You have free access to this content
    Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis

    Pediatrics International

    Volume 57, Issue 3, June 2015, Pages: 339–347, Masaya Kubota, Sayaka Ohta, Aki Ando, Akiko Koyama, Hiroshi Terashima, Hirofumi Kashii, Hideki Hoshino, Katsuo Sugita and Masaharu Hayashi

    Version of Record online : 26 JUN 2015, DOI: 10.1111/ped.12635

  13. Cockayne syndrome – a primary defect in DNA repair, transcription, both or neither?

    BioEssays

    Volume 18, Issue 9, September 1996, Pages: 731–738, Errol C. Friedberg

    Version of Record online : 5 FEB 2005, DOI: 10.1002/bies.950180908

  14. Identical male twins and brother with Cockayne syndrome

    American Journal of Medical Genetics

    Volume 13, Issue 2, October 1982, Pages: 211–223, Dr. C. Stuart Houston, Witold A. Zaleski, Bohdan Rozdilsky and John M. Opitz

    Version of Record online : 2 JUN 2005, DOI: 10.1002/ajmg.1320130212

  15. Cockayne syndrome: The developing phenotype

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 2, 1 June 2005, Pages: 214–216, Wen-Hann Tan, Hagit Baris, Caroline D. Robson and Virginia E. Kimonis

    Version of Record online : 10 MAY 2005, DOI: 10.1002/ajmg.a.30731

  16. Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids

    Human Mutation

    Volume 10, Issue 4, 1997, Pages: 317–321, Lisa D. McDaniel, Randy Legerski, Alan R. Lehmann, Errol C. Friedberg and Roger A. Schultz

    Version of Record online : 8 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1997)10:4<317::AID-HUMU8>3.0.CO;2-D

  17. Repair and processing of DNA damage

    Journal of Cellular Biochemistry

    Volume 59, Issue S21A, 10 March 1995, Pages: 265–351,

    Version of Record online : 19 FEB 2004, DOI: 10.1002/jcb.240590607

  18. Overproduction, purification, crystallization and preliminary X-ray diffraction analysis of Cockayne syndrome protein A in complex with DNA damage-binding protein 1

    Acta Crystallographica Section F

    Volume 68, Issue 1, January 2012, Pages: 45–48, Elisabeth M. Meulenbroek and Navraj S. Pannu

    DOI: 10.1107/S1744309111045842

  19. A comprehensive description of the severity groups in Cockayne syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 5, May 2011, Pages: 1081–1095, Valerie Natale

    Version of Record online : 7 APR 2011, DOI: 10.1002/ajmg.a.33933

  20. You have full text access to this OnlineOpen article
    A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome

    Clinical Case Reports

    Volume 2, Issue 2, April 2014, Pages: 33–36, Yu Luo, Yan Ling, Jiachao Chen, Xi Xu, Chen Chen, Fei Leng, Jing Cheng, Min Chen and Zhiqiang Lu

    Version of Record online : 7 FEB 2014, DOI: 10.1002/ccr3.47