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There are 13449 results for: content related to: A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa

  1. 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

  2. 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

  3. Splicing mutation in the COL7A1 gene mRNA exon 71 in a female patient with pretibial epidermolysis bullosa

    The Journal of Dermatology

    Volume 41, Issue 11, November 2014, Pages: 1018–1019, Tomoko Kitazawa, Tamihiro Kawakami, Maya Matsuoka, Satoko Kimura, Yoshinao Soma and Hajime Nakano

    Version of Record online : 25 OCT 2014, DOI: 10.1111/1346-8138.12648

  4. 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

  5. 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

  6. Recessive dystrophic epidermolysis bullosa caused by a de novo interstitial deletion spanning COL7A1 and a hemizygous splicing mutation in trans

    Clinical and Experimental Dermatology

    Volume 41, Issue 4, June 2016, Pages: 372–378, M. Lee, G. Xu, K. Wang, H. Wang, J. Zhang, Z. Tang, Z. Lin and Y. Yang

    Version of Record online : 4 MAR 2016, DOI: 10.1111/ced.12809

  7. 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

  8. 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

  9. 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

  10. COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa

    British Journal of Dermatology

    Volume 157, Issue 6, December 2007, Pages: 1260–1264, S-W. Oh, J.S. Lee, M.Y. Kim and S-C. Kim

    Version of Record online : 4 OCT 2007, DOI: 10.1111/j.1365-2133.2007.08191.x

  11. 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

  12. 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

  13. Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort

    British Journal of Dermatology

    Volume 161, Issue 5, November 2009, Pages: 1089–1097, J.S. Kern, G. Grüninger, R. Imsak, M.L. Müller, H. Schumann, D. Kiritsi, S. Emmert, W. Borozdin, J. Kohlhase, L. Bruckner-Tuderman and C. Has

    Version of Record online : 4 JUN 2009, DOI: 10.1111/j.1365-2133.2009.09333.x

  14. 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

  15. 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

  16. You have free access to this content
    Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies

    Journal of Thrombosis and Haemostasis

    Volume 8, Issue 12, December 2010, Pages: 2736–2742, G. CASTAMAN, M. PLATÈ, S. H. GIACOMELLI, F. RODEGHIERO and S. DUGA

    Version of Record online : 8 DEC 2010, DOI: 10.1111/j.1538-7836.2010.04060.x

  17. 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

  18. Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene

    International Journal of Dermatology

    Volume 54, Issue 4, April 2015, Pages: 438–442, Bing-Jun Shi, Xiao-Juan Zhu, Yi Liu, Jin Hao, Guo-Fu Yan, Su-Ping Wang, Xiu-Yong Wang and Qing-Chun Diao

    Version of Record online : 20 MAR 2015, DOI: 10.1111/ijd.12704

  19. A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia

    Pediatric Blood & Cancer

    Volume 58, Issue 4, April 2012, Pages: 640–642, Hyoung Soo Choi, Hye Ran Yang, Sang Hoon Song, Ja-Young Seo, Ki-O Lee and Hee-Jin Kim

    Version of Record online : 25 MAY 2011, DOI: 10.1002/pbc.23190

  20. High frequency of the 425A[RIGHTWARDS ARROW]G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa

    British Journal of Dermatology

    Volume 152, Issue 5, May 2005, Pages: 879–886, M. Csikós, H.I. Szőcs, A. Lászik, S. Mecklenbeck, A. Horváth, S. Kárpáti and L. Bruckner-Tuderman

    Version of Record online : 28 APR 2005, DOI: 10.1111/j.1365-2133.2005.06542.x