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There are 22158 results for: content related to: Case of dominant dystrophic epidermolysis bullosa pruriginosa with a c.7868 G > A ( G 2623 D ) mutation in type VII collagen

  1. The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

    Human Mutation

    Volume 32, Issue 10, October 2011, Pages: 1100–1107, Peter C. van den Akker, Marcel F. Jonkman, Trebor Rengaw, Leena Bruckner-Tuderman, Cristina Has, Johann W. Bauer, Alfred Klausegger, Giovanna Zambruno, Daniele Castiglia, Jemima E. Mellerio, John A. McGrath, Anthonie J. van Essen, Robert M.W. Hofstra and Morris A. Swertz

    Version of Record online : 9 SEP 2011, DOI: 10.1002/humu.21551

  2. Skipped exon in COL7A1 determines the clinical phenotypes of dystrophic epidermolysis bullosa

    British Journal of Dermatology

    Volume 172, Issue 4, April 2015, Pages: 1141–1144, E. Toyonaga, W. Nishie, M. Komine, S. Murata, S. Shinkuma, K. Natsuga, H. Nakamura, M. Ohtsuki and H. Shimizu

    Version of Record online : 25 FEB 2015, DOI: 10.1111/bjd.13386

  3. A novel de novo splice-site mutation in the COL7A1 gene in dominant dystrophic epidermolysis bullosa (DDEB): specific exon skipping could be a prognostic factor for DDEB pruriginosa

    Clinical and Experimental Dermatology

    Volume 34, Issue 8, December 2009, Pages: e934–e936, M. Saito, T. Masunaga and A. Ishiko

    Version of Record online : 26 MAY 2009, DOI: 10.1111/j.1365-2230.2009.03254.x

  4. Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations

    British Journal of Dermatology

    Volume 159, Issue 2, August 2008, Pages: 464–469, H. Schumann, C. Has, J. Kohlhase and L. Bruckner-Tuderman

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1365-2133.2008.08695.x

  5. Exon 87 skipping of the COL7A1 gene in dominant dystrophic epidermolysis bullosa

    The Journal of Dermatology

    Volume 38, Issue 5, May 2011, Pages: 489–492, Hiroshi KOGA, Takahiro HAMADA, Norito ISHII, Shunpei FUKUDA, Sachiko SAKAGUCHI, Hajime NAKANO, Katuto TAMAI, Daisuke SAWAMURA and Takashi HASHIMOTO

    Version of Record online : 20 SEP 2010, DOI: 10.1111/j.1346-8138.2010.01008.x

  6. Genetic Blistering Diseases

    Rook's Textbook of Dermatology, Seventh Edition

    R. A. J. Eady, J-D. Fine, S. M. Burge, Pages: 1993–2028, 2008

    Published Online : 4 FEB 2008, DOI: 10.1002/9780470750520.ch40

  7. Epidermolysis Bullosa Pruriginosa: Further Clarification of the Phenotype

    Pediatric Dermatology

    Katherine Brick, Jennifer L. Hand, Amy S. Frankel, Dawn H. Siegel, Kelly B. Thomas, Rokea el-Azhary and Alfons Krol

    Version of Record online : 29 MAY 2012, DOI: 10.1111/j.1525-1470.2012.1786.x

  8. A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing

    British Journal of Dermatology

    Volume 165, Issue 3, September 2011, Pages: 678–682, C. Covaciu, F. Grosso, E. Pisaneschi, G. Zambruno, P.A. Gregersen, M. Sommerlund, J.M. Hertz and D. Castiglia

    Version of Record online : 28 JUL 2011, DOI: 10.1111/j.1365-2133.2011.10414.x

  9. A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa

    Clinical and Experimental Dermatology

    Volume 29, Issue 3, May 2004, Pages: 304–307, G. S. Chuang, A. Martinez-Mir, H.-S. Yu, F.-Y. Sung, R. Y. Chuang, P. B. Cserhalmi-Friedman and A. M. Christiano

    Version of Record online : 29 APR 2004, DOI: 10.1111/j.1365-2230.2004.01495.x

  10. Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa

    British Journal of Dermatology

    Volume 172, Issue 3, March 2015, Pages: 778–781, P.C. van den Akker, A.M.G. Pasmooij, R. Meijer, H. Scheffer and M.F. Jonkman

    Version of Record online : 22 JAN 2015, DOI: 10.1111/bjd.13336

  11. Epidermolysis bullosa pruriginosa triggered by scabies infestation

    The Journal of Dermatology

    Volume 40, Issue 7, July 2013, Pages: 562–563, Jaehwan Kim, Chee Hoou Loh and Dedee F. Murrell

    Version of Record online : 10 MAY 2013, DOI: 10.1111/1346-8138.12167

  12. You have free access to this content
    Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

    Experimental Dermatology

    Volume 17, Issue 7, July 2008, Pages: 553–568, Ningning Dang and Dédée F. Murrell

    Version of Record online : 3 JUN 2008, DOI: 10.1111/j.1600-0625.2008.00723.x

  13. Epidermolysis Bullosa

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

    Jemima E. Mellerio, Jacqueline E. Denyer, Pages: 118.1–118.34, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch118

  14. The clinical spectrum of dystrophic epidermolysis bullosa

    British Journal of Dermatology

    Volume 146, Issue 2, February 2002, Pages: 267–274, H.M. Horn and M.J. Tidman

    Version of Record online : 9 APR 2002, DOI: 10.1046/j.1365-2133.2002.04607.x

  15. Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization

    Clinical Genetics

    Volume 70, Issue 4, October 2006, Pages: 339–347, B Drera, D Castiglia, N Zoppi, R Gardella, G Tadini, G Floriddia, N De Luca, C Pedicelli, S Barlati, G Zambruno and M Colombi

    Version of Record online : 17 AUG 2006, DOI: 10.1111/j.1399-0004.2006.00679.x

  16. You have full text access to this OnlineOpen article
    An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred

    Pediatric Dermatology

    Volume 29, Issue 6, November/December 2012, Pages: 725–731, Catherine S. Yang, Yin Lu, Anita Farhi, Carol Nelson-Williams, Michael Kashgarian, Earl J. Glusac, Richard P. Lifton, Richard J. Antaya and Keith A. Choate

    Version of Record online : 20 APR 2012, DOI: 10.1111/j.1525-1470.2012.01757.x

  17. Dystrophic epidermolysis bullosa pruriginosa of elderly onset

    The Journal of Dermatology

    Volume 38, Issue 2, February 2011, Pages: 173–178, Masahiro HAYASHI, Masakazu KAWAGUCHI, Yutaka HOZUMI, Hajime NAKANO, Daisuke SAWAMURA and Tamio SUZUKI

    Version of Record online : 28 SEP 2010, DOI: 10.1111/j.1346-8138.2010.00953.x

  18. Epidermolysis bullosa pruriginosa in association with lichen planopilaris

    Clinical and Experimental Dermatology

    Volume 34, Issue 8, December 2009, Pages: e825–e828, N. Almaani, L. Liu, A. Perez, A. Robson, J. E. Mellerio and J. A. McGrath

    Version of Record online : 13 NOV 2009, DOI: 10.1111/j.1365-2230.2009.03568.x

  19. Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1)

    The Journal of Dermatology

    Volume 33, Issue 8, August 2006, Pages: 550–556, Takako IWATA, Hajime NAKANO, Aoi NAKANO, Yuka TOYOMAKI, Katsuto TAMAI and Yasushi TOMITA

    Version of Record online : 1 AUG 2006, DOI: 10.1111/j.1346-8138.2006.00130.x

  20. Epidermolysis Bullosa Pruriginosa: Further Clarification of the Phenotype

    Pediatric Dermatology

    Volume 29, Issue 6, November/December 2012, Pages: 732–737, Katherine Brick, Jennifer L. Hand, Amy S. Frankel, Dawn H. Siegel, Kelly B. Thomas, Rokea el-Azhary and Alfons Krol

    Version of Record online : 29 OCT 2012, DOI: 10.1111/j.1525-1470.2012.01786.x