Search Results

There are 1415 results for: content related to: Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9

  1. You have free access to this content
    The Most Common Mutation of KRT9, c.C487T (p.R163W), in Epidermolytic Palmoplantar Keratoderma in Two Large Chinese Pedigrees

    The Anatomical Record

    Volume 295, Issue 4, April 2012, Pages: 604–609, Wen-Ting Liu, Hai-Ping Ke, Yan Zhao, Xiao-Ling Chen, Jia-Jun Lu, Zheng-Fang Du, Dan Yu and Xian-Ning Zhang

    Article first published online : 20 JAN 2012, DOI: 10.1002/ar.22409

  2. Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma

    Clinical and Experimental Dermatology

    Volume 35, Issue 7, October 2010, Pages: 759–764, Y. Shimomura, M. Wajid, J. Weiser, L. Kraemer and A. M. Christiano

    Article first published online : 23 OCT 2009, DOI: 10.1111/j.1365-2230.2009.03700.x

  3. A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review

    International Journal of Dermatology

    Volume 53, Issue 8, August 2014, Pages: e375–e379, Yanhua H. Liang, Qingxiu X. Liu, Liang Huang and Kang Zeng

    Article first published online : 5 JUN 2014, DOI: 10.1111/ijd.12352

  4. A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma

    British Journal of Dermatology

    Volume 150, Issue 4, April 2004, Pages: 647–651, X-H. He, X-N. Zhang, W. Mao, H-P. Chen, L-R. Xu, H. Chen, X-L. He and Y-P. Le

    Article first published online : 31 MAR 2004, DOI: 10.1111/j.0007-0963.2004.05865.x

  5. Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif

    British Journal of Dermatology

    Volume 140, Issue 3, March 1999, Pages: 486–490, COLEMAN, MUNRO, SMITH, UITTO and McLEAN

    Article first published online : 24 DEC 2001, DOI: 10.1046/j.1365-2133.1999.02715.x

  6. Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family

    Clinical and Experimental Dermatology

    Volume 34, Issue 1, January 2009, Pages: 26–28, M. Li, L.J. Yang, H.-K. Hua, X.-H. Zhu and X.-Y. Dai

    Article first published online : 14 MAR 2007, DOI: 10.1111/j.1365-2230.2007.02384.x

  7. Molecular Genetics of Inherited Disorders of Epidermal Keratins

    Standard Article

    eLS

    Eli Sprecher

    Published Online : 15 MAR 2009, DOI: 10.1002/9780470015902.a0021472

  8. Vörner type palmoplantar keratoderma: novel KRT9 mutation associated with knuckle pad-like lesions and recurrent mutation causing digital mutilation

    British Journal of Dermatology

    Volume 165, Issue 1, July 2011, Pages: 199–201, N. Umegaki, H. Nakano, K. Tamai, Y. Mitsuhashi, E Akasaka, D. Sawamura and I. Katayama

    Article first published online : 24 JUN 2011, DOI: 10.1111/j.1365-2133.2011.10317.x

  9. A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma

    International Journal of Dermatology

    Volume 45, Issue 9, September 2006, Pages: 1128–1130, Kiyo Shimazu, Yuichiro Tsunemi, Naoko Hattori, Hidehisa Saeki, Mayumi Komine, Makoto Adachi and Kunihiko Tamaki

    Article first published online : 7 FEB 2006, DOI: 10.1111/j.1365-4632.2006.02910.x

  10. L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma

    British Journal of Dermatology

    Volume 155, Issue 3, September 2006, Pages: 624–626, A. Kon, N. Ito, Y. Kudo, K. Nomura, K. Yoneda, K Hanada, I Hashimoto and K. Takagaki

    Article first published online : 6 JUN 2006, DOI: 10.1111/j.1365-2133.2006.07358.x

  11. Diagnosis of Epidermolytic Palmoplantar Keratoderma in a Very Early Stage by Gene Analysis

    The Journal of Dermatology

    Volume 32, Issue 10, October 2005, Pages: 859–861, Kiyo Shimazu, Yuichiro Tsunemi, Naoko Hattori, Makoto Adachi, Sumihisa Imakado, Hidehisa Saeki, Mayumi Komine and Kunihiko Tamaki

    Article first published online : 22 JUL 2014, DOI: 10.1111/j.1346-8138.2005.tb00861.x

  12. A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma

    Clinical and Experimental Dermatology

    Volume 29, Issue 3, May 2004, Pages: 308–310, J.-H. Lin, M.-H. Lin, M.-H. Yang and S.-C. Chao

    Article first published online : 29 APR 2004, DOI: 10.1111/j.1365-2230.2004.01497.x

  13. Familial palmoplantar keratoderma: not always hereditary

    Journal of the European Academy of Dermatology and Venereology

    Volume 21, Issue 10, November 2007, Pages: 1437–1438, Z Khamaysi, M Indelman, R Bergman and E Sprecher

    Article first published online : 5 JUN 2007, DOI: 10.1111/j.1468-3083.2007.02251.x

  14. The Common KRT9 Gene Mutation in a Japanese Patient with Epidermolytic Palmoplantar Keratoderma and Knuckle Pad-Like Keratoses

    The Journal of Dermatology

    Volume 32, Issue 6, June 2005, Pages: 500–502, Takahiro Hamada, Norito Ishii, Tadashi Karashima, Yuko Kawano, Shinichiro Yasumoto and Takashi Hashimoto

    Article first published online : 22 JUL 2014, DOI: 10.1111/j.1346-8138.2005.tb00789.x

  15. A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads

    American Journal of Medical Genetics Part A

    Volume 120A, Issue 3, 30 July 2003, Pages: 345–349, Yong Lu, Chenhong Guo, Qiji Liu, Xiyu Zhang, Lin Cheng, Jiangxia Li, Bingxi Chen, Guimin Gao, Haibin Zhou, Yishou Guo, Yefu Li and Yaoqin Gong

    Article first published online : 21 MAR 2003, DOI: 10.1002/ajmg.a.20090

  16. Keratins and Keratin Diseases

    Standard Article

    eLS

    MA Rogers

    Published Online : 27 JAN 2006, DOI: 10.1038/npg.els.0005905

  17. You have free access to this content
    Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma

    Experimental Dermatology

    Volume 24, Issue 2, February 2015, Pages: 152–155, Santasree Banerjee, Yunqing Ren, Tianying Wei, Zhongwei Zhou, Ping Yu, Fenghui Guan, Xiaonming Wei, Sheng Ye, Shaofeng Yan, Min Zheng, Michael L Raff and Ming Qi

    Article first published online : 27 JAN 2015, DOI: 10.1111/exd.12610

  18. Analysis of the KRT9 Gene in a Mexican Family with Epidermolytic Palmoplantar Keratoderma

    Pediatric Dermatology

    Volume 30, Issue 3, May/June 2013, Pages: 354–358, Jaime Lopez-Valdez, Maria Refugio Rivera-Vega, Luz Maria Gonzalez-Huerta, Jorge Cazarin and Sergio Cuevas-Covarrubias

    Article first published online : 26 DEC 2012, DOI: 10.1111/pde.12027

  19. Microarray analysis of aberrant gene expression in actinic keratosis: effect of the Toll-like receptor-7 agonist imiquimod

    British Journal of Dermatology

    Volume 157, Issue 6, December 2007, Pages: 1132–1147, A. Torres, L. Storey, M. Anders, R.L. Miller, B.J. Bulbulian, J. Jin, S. Raghavan, J. Lee, H.B. Slade and W. Birmachu

    Article first published online : 18 OCT 2007, DOI: 10.1111/j.1365-2133.2007.08218.x

  20. Perinuclear eosinophilic bands: A clue to keratin gene mutation

    Journal of Cutaneous Pathology

    Volume 37, Issue 7, July 2010, Pages: 718–719, Laila El Shabrawi-Caelen and Timothy H. McCalmont

    Article first published online : 18 MAY 2010, DOI: 10.1111/j.1600-0560.2010.01555.x