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There are 5782 results for: content related to: Four novel and two recurrent glycine substitution mutations in the COL7A1 gene in Chinese patients with epidermolysis bullosa pruriginosa

  1. 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

  2. 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

  3. Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study

    British Journal of Dermatology

    Volume 170, Issue 4, April 2014, Pages: 901–906, C. Chiaverini, A. Charlesworth, A. Fernandez, S. Barbarot, D. Bessis, C. Bodemer, A.-C. Bursztejn, A.-M. Cobo, M. Del Rio, M. D'Incan, C. Labrèze, C. Langlet, J. Mazereeuw, J. Miquel, P. Vabres, G. Meneguzzi and J.-P. Lacour

    Version of Record online : 15 APR 2014, DOI: 10.1111/bjd.12741

  4. The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation

    British Journal of Dermatology

    Volume 163, Issue 1, July 2010, Pages: 155–161, M.J. Escámez, M. García, N. Cuadrado-Corrales, S.G. Llames, A. Charlesworth, N. De Luca, N. Illera, C. Sánchez-Jimeno, A. Holguín, B. Duarte, M.J. Trujillo-Tiebas, J.L. Vicario, J.L. Santiago, A. Hernández-Martín, A. Torrelo, D. Castiglia, C. Ayuso, F. Larcher, J.L. Jorcano, A. Meana, G. Meneguzzi, G. Zambruno and M. Del Rio

    Version of Record online : 22 FEB 2010, DOI: 10.1111/j.1365-2133.2010.09713.x

  5. 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

  6. 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

  7. 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

  8. 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

  9. Recessive Bullous Dermolysis of the Newborn in Preterm Siblings with a Missense Mutation in Type VII Collagen

    Pediatric Dermatology

    Volume 32, Issue 2, March/April 2015, Pages: e42–e47, Valeria Boccaletti, Giovanna Zambruno, Daniele Castiglia, Cinzia Magnani, Elena Tognetti, Giuseppe Fabrizi, Chiara Cortelazzi, Calogero Pagliarello and Sergio Di Nuzzo

    Version of Record online : 30 JAN 2015, DOI: 10.1111/pde.12513

  10. Genetics of human isolated hereditary nail disorders

    British Journal of Dermatology

    Volume 173, Issue 4, October 2015, Pages: 922–929, S. Khan, S. Basit, R. Habib, A. Kamal, N. Muhammad and W. Ahmad

    Version of Record online : 8 SEP 2015, DOI: 10.1111/bjd.14023

  11. 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

  12. 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

  13. You have free access to this content
    Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer

    International Journal of Cancer

    Volume 116, Issue 5, 20 September 2005, Pages: 692–702, Elisabeth Mangold, Constanze Pagenstecher, Waltraut Friedl, Micaela Mathiak, Reinhard Buettner, Christoph Engel, Markus Loeffler, Elke Holinski-Feder, Yvonne Müller-Koch, Gisela Keller, Hans K. Schackert, Stefan Krüger, Timm Goecke, Gabriela Moeslein, Matthias Kloor, Johannes Gebert, Erdmute Kunstmann, Karsten Schulmann, Josef Rüschoff, Peter Propping and the German HNPCC Consortium

    Version of Record online : 22 APR 2005, DOI: 10.1002/ijc.20863

  14. 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

  15. 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

  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. Clinical Findings in Children with Cutaneous Anthrax in Eastern Turkey

    Pediatric Dermatology

    Volume 27, Issue 6, November/December 2010, Pages: 600–606, Sinan Akbayram, Murat Doğan, Cihangir Akgün, Erdal Peker, M. Selçuk Bektaş, Avni Kaya, Hüseyin Çaksen and Ahmet Faik Öner

    Version of Record online : 18 NOV 2010, DOI: 10.1111/j.1525-1470.2010.01214.x

  18. Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa

    British Journal of Dermatology

    Volume 173, Issue 3, September 2015, Pages: 731–738, E. Tenedini, L. Artuso, I. Bernardis, V. Artusi, A. Percesepe, L. De Rosa, R. Contin, R. Manfredini, G. Pellacani, A. Giannetti, J. Pagani, M. De Luca and E. Tagliafico

    Version of Record online : 29 JUL 2015, DOI: 10.1111/bjd.13858

  19. 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

  20. A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa

    British Journal of Dermatology

    Volume 154, Issue 5, May 2006, Pages: 995–997, D. Sawamura, H. Niizeki, S. Miyagawa, S. Shinkuma and H. Shimizu

    Version of Record online : 22 FEB 2006, DOI: 10.1111/j.1365-2133.2006.07148.x