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There are 32162 results for: content related to: Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population

  1. 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

  2. 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

  3. 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

  4. Unique mouse monoclonal antibodies reactive with maturation-related epitopes on type VII collagen

    Experimental Dermatology

    Taihei Hayakawa, Yoshiaki Hirako, Kwesi Teye, Atsunari Tsuchisaka, Hiroshi Koga, Norito Ishii, Tadashi Karashima, Minori Kaneda, Yuka Oyu, Chiharu Tateishi, Koji Sugawara, Ayano Yonamine, Satoru Shinkuma, Hiroshi Shimizu, Hideo Fukano, Kazuo Shimozato, Ngon T. Nguyen, M. Peter Marinkovich, Daisuke Tsuruta and Takashi Hashimoto

    Version of Record online : 20 APR 2017, DOI: 10.1111/exd.13306

  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. 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

  7. 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

  8. Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family

    Annals of Human Genetics

    Volume 79, Issue 5, September 2015, Pages: 350–356, Rehab Serafi, Musharraf Jelani, Mona M. Almramhi, Hussein S.A. Mohamoud, Saleem Ahmed, Yaser M. Alkhiary, Jianguo Zhang, Huanming Yang and Jumana Y. Al-Aama

    Version of Record online : 23 JUN 2015, DOI: 10.1111/ahg.12123

  9. A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa

    British Journal of Dermatology

    Volume 158, Issue 3, March 2008, Pages: 618–620, X. Ren, J.Y. Liu, L.Y. Zhai, Q. Yao, X. Dai, Z. Cai, P. Liu, K. Sun, C. Huang, Q.K. Wang and M. Liu

    Version of Record online : 11 FEB 2008, DOI: 10.1111/j.0007-0963.2007.08340.x

  10. The COL7A1 mutation database

    Human Mutation

    Volume 33, Issue 2, February 2012, Pages: 327–331, Katarzyna Wertheim-Tysarowska, Agnieszka Sobczyńska-Tomaszewska, Cezary Kowalewski, Michał Skroński, Grzegorz Święćkowski, Anna Kutkowska-Kaźmierczak, Katarzyna Woźniak and Jerzy Bal

    Version of Record online : 20 DEC 2011, DOI: 10.1002/humu.21651

  11. High levels of type VII collagen expression in recessive dystrophic epidermolysis bullosa cutaneous squamous cell carcinoma keratinocytes increases PI3K and MAPK signalling, cell migration and invasion

    British Journal of Dermatology

    Volume 170, Issue 6, June 2014, Pages: 1256–1265, C. Pourreyron, M. Chen, J.A. McGrath, J.C. Salas-Alanis, A.P. South and I.M. Leigh

    Version of Record online : 19 JUN 2014, DOI: 10.1111/bjd.12715

  12. Dystrophic Epidermolysis Bullosa with One Dominant and One Recessive Mutation of the COL7A1 Gene in a Child with Deafness

    Pediatric Dermatology

    Volume 25, Issue 2, March/April 2008, Pages: 210–214, Sarah Weinel, Anne W. Lucky, Jouni Uitto, Ellen G. Pfendner and Daniel Choo

    Version of Record online : 21 APR 2008, DOI: 10.1111/j.1525-1470.2008.00636.x

  13. You have full text access to this OnlineOpen article
    A single epidermal stem cell strategy for safe ex vivo gene therapy

    EMBO Molecular Medicine

    Volume 7, Issue 4, April 2015, Pages: 380–393, Stéphanie Droz-Georget Lathion, Ariane Rochat, Graham Knott, Alessandra Recchia, Danielle Martinet, Sara Benmohammed, Nicolas Grasset, Andrea Zaffalon, Nathalie Besuchet Schmutz, Emmanuelle Savioz-Dayer, Jacques Samuel Beckmann, Jacques Rougemont, Fulvio Mavilio and Yann Barrandon

    Version of Record online : 27 FEB 2015, DOI: 10.15252/emmm.201404353

  14. Significance of sentinel node biopsy in the management of squamous cell carcinoma arising from recessive dystrophic epidermolysis bullosa

    The Journal of Dermatology

    Volume 35, Issue 6, June 2008, Pages: 336–340, Akiko ROKUNOHE, Hajime NAKANO, Takayuki AIZU, Takahide KANEKO, Koji NAKAJIMA, Satsuki IKENAGA, Yasushi MATSUZAKI, Takaya MURAI, Katsuto TAMAI and Daisuke SAWAMURA

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1346-8138.2008.00479.x

  15. Two cases of recessive dystrophic epidermolysis bullosa diagnosed as severe generalized

    The Journal of Dermatology

    Volume 38, Issue 9, September 2011, Pages: 893–899, Masafumi OHASHI, En SHU, Miki NAGAI, Kana MURASE, Hajime NAKANO, Katuto TAMAI, Daisuke SAWAMURA, Takako HIROKA, Mariko SEISHIMA, Yasuo KITAJIMA and Yumi AOYAMA

    Version of Record online : 9 JUN 2011, DOI: 10.1111/j.1346-8138.2011.01230.x

  16. 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

  17. Gene Therapy for Inherited Skin Disorders

    Standard Article

    eLS

    Su M Lwin and John A McGrath

    Published Online : 17 APR 2017, DOI: 10.1002/9780470015902.a0026940

  18. Compound Heterozygosity of Dominant and Recessive COL7A Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications

    Pediatric Dermatology

    Volume 34, Issue 2, March/April 2017, Pages: 166–171, Kendra D. Watson, Jennifer J. Schoch, Geoffrey J. Beek and Jennifer L. Hand

    Version of Record online : 10 MAR 2017, DOI: 10.1111/pde.13083

  19. You have free access to this content
    Keratinocyte cell lines derived from severe generalized recessive Epidermolysis Bullosa patients carrying a highly recurrent COL7A1 homozygous mutation: models to assess cell and gene therapies in vitro and in vivo

    Experimental Dermatology

    Volume 22, Issue 9, September 2013, Pages: 601–603, Cristina Chamorro, David Almarza, Blanca Duarte, Sara G. Llames, Rodolfo Murillas, Marta García, Juan C. Cigudosa, Luis Espinosa-Hevia, Maria José Escámez, Ángeles Mencía, Álvaro Meana, Ramón García-Escudero, Rosa Moro, Claudio J. Conti, Marcela Del Río and Fernando Larcher

    Version of Record online : 16 AUG 2013, DOI: 10.1111/exd.12203

  20. 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