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There are 8839 results for: content related to: Complete homozygous deletion of CTSC in an I ranian family with P apillon– L efèvre syndrome

  1. Papillon–Lefèvre syndrome: report of six patients and identification of a novel mutation

    International Journal of Dermatology

    Volume 55, Issue 8, August 2016, Pages: 898–902, Burak Tekin, Deniz Yucelten, Filippo Beleggia, Ofer Sarig and Eli Sprecher

    Version of Record online : 7 APR 2016, DOI: 10.1111/ijd.13297

  2. You have full text access to this OnlineOpen article
    CTSC and Papillon–Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update

    Molecular Genetics & Genomic Medicine

    Volume 2, Issue 3, May 2014, Pages: 217–228, Nikoletta Nagy, Péter Vályi, Zsanett Csoma, Adrienn Sulák, Kornélia Tripolszki, Katalin Farkas, Ekaterine Paschali, Ferenc Papp, Lola Tóth, Beáta Fábos, Lajos Kemény, Katalin Nagy and Márta Széll

    Version of Record online : 11 FEB 2014, DOI: 10.1002/mgg3.61

  3. You have free access to this content
    Inherited diseases caused by mutations in cathepsin protease genes

    The FEBS Journal

    Volume 284, Issue 10, May 2017, Pages: 1437–1454, Stephanie Ketterer, Alejandro Gomez-Auli, Larissa E. Hillebrand, Agnese Petrera, Anett Ketscher and Thomas Reinheckel

    Version of Record online : 12 JAN 2017, DOI: 10.1111/febs.13980

  4. Functional Cathepsin C mutations cause different Papillon–Lefèvre syndrome phenotypes

    Journal of Clinical Periodontology

    Volume 35, Issue 4, April 2008, Pages: 311–316, Barbara Noack, Heike Görgens, Beate Schacher, Magda Puklo, Peter Eickholz, Thomas Hoffmann and Hans Konrad Schackert

    Version of Record online : 20 FEB 2008, DOI: 10.1111/j.1600-051X.2008.01201.x

  5. A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome

    Journal of the European Academy of Dermatology and Venereology

    Volume 24, Issue 8, August 2010, Pages: 967–969, M Kurban, T Cheng, M Wajid, M Kiuru, Y Shimomura and AM Christiano

    Version of Record online : 4 MAR 2010, DOI: 10.1111/j.1468-3083.2010.03575.x

  6. One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes

    Clinical and Experimental Dermatology

    Volume 41, Issue 2, March 2016, Pages: 190–195, A. Sulák, L. Tóth, K. Farkas, K. Tripolszki, B. Fábos, L. Kemény, P. Vályi, K. Nagy, N. Nagy and M. Széll

    Version of Record online : 24 JUL 2015, DOI: 10.1111/ced.12710

  7. You have free access to this content
    Analysis of urinary cathepsin C for diagnosing Papillon–Lefèvre syndrome

    The FEBS Journal

    Volume 283, Issue 3, February 2016, Pages: 498–509, Yveline Hamon, Monika Legowska, Patricia Fergelot, Sandrine Dallet-Choisy, Louise Newell, Lise Vanderlynden, Ali Kord Valeshabad, Karina Acrich, Hadi Kord, Charalampos Tsamakis, Fanny Morice-Picard, Ian Surplice, Jerome Zoidakis, Karen David, Antonia Vlahou, Shivanna Ragunatha, Nikoletta Nagy, Katalin Farkas, Márta Széll, Cyril Goizet, Beate Schacher, Maurizio Battino, Abdullah Al Farraj Aldosari, Xinwen Wang, Yang Liu, Sylvain Marchand-Adam, Adam Lesner, Elodie Kara, Sevil Korkmaz-Icöz, Celia Moss, Peter Eickholz, Alain Taieb, Salih Kavukcu, Dieter E. Jenne, Francis Gauthier and Brice Korkmaz

    Version of Record online : 4 JAN 2016, DOI: 10.1111/febs.13605

  8. A novel large deletion combined with a nonsense mutation in a Chinese child with Papillon–Lefèvre syndrome

    Journal of Periodontal Research

    Volume 51, Issue 3, June 2016, Pages: 376–380, W. Wu, B. Chen, X. Chen, L. Chen, L. Yi, Y. Wang, F. Yan and W. Sun

    Version of Record online : 19 SEP 2015, DOI: 10.1111/jre.12317

  9. The novel CTSC homozygous nonsense mutation p.Lys106X in a patient with Papillon–Lefèvre syndrome with all permanent teeth remaining at over 40 years of age

    British Journal of Dermatology

    Volume 169, Issue 4, October 2013, Pages: 948–950, T. Kobayashi, K. Sugiura, T. Takeichi and M. Akiyama

    Version of Record online : 10 OCT 2013, DOI: 10.1111/bjd.12429

  10. Confirmation of oxidative stress and fatty acid disturbances in two further Papillon–Lefèvre syndrome families with identification of a new mutation

    Journal of the European Academy of Dermatology and Venereology

    Volume 28, Issue 8, August 2014, Pages: 1049–1056, P. Bullón, J.M. Morillo, N. Thakker, R. Veeramachaneni, J.L. Quiles, M.C. Ramírez-Tortosa, R. Jaramillo and M. Battino

    Version of Record online : 3 SEP 2013, DOI: 10.1111/jdv.12265

  11. A homozygous cathepsin C mutation associated with Haim–Munk syndrome

    British Journal of Dermatology

    Volume 152, Issue 2, February 2005, Pages: 353–356, V.F. Cury, R.S. Gomez, J.E. Costa, E. Friedman, W. Boson and L. De Marco

    Version of Record online : 3 FEB 2005, DOI: 10.1111/j.1365-2133.2004.06278.x

  12. The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis

    Human Mutation

    Volume 23, Issue 3, March 2004, Pages: 222–228, Chelsee Hewitt, Derek McCormick, Gerry Linden, Dusan Turk, Igor Stern, Ian Wallace, Louise Southern, Liqun Zhang, Rebecca Howard, Pedro Bullon, Melanie Wong, Richard Widmer, Khaled Abdul Gaffar, Lama Awawdeh, Jim Briggs, Reza Yaghmai, Ethlin W. Jabs, Peter Hoeger, Oliver Bleck, Stefan G. Rüdiger, Gregor Petersilka, Maurizio Battino, Peter Brett, Faiez Hattab, Mohamed Al-Hamed, Philip Sloan, Carmel Toomes, Mike Dixon, Jacqueline James, Andrew P. Read and Nalin Thakker

    Version of Record online : 10 FEB 2004, DOI: 10.1002/humu.10314

  13. High immunoglobulin E in a Chinese Papillon–Lefèvre syndrome patient with novel compound mutations of cathepsin C

    The Journal of Dermatology

    Volume 39, Issue 7, July 2012, Pages: 664–665, Xuan WEN, Xinwen WANG and Xiaohong DUAN

    Version of Record online : 6 JAN 2012, DOI: 10.1111/j.1346-8138.2011.01474.x

  14. Coinheritance of two rare genodermatoses (Papillon–Lefèvre syndrome and oculocutaneous albinism type 1) in two families: a genetic study

    British Journal of Dermatology

    Volume 151, Issue 6, December 2004, Pages: 1261–1265, C. Hewitt, C-L. Wu, F.N. Hattab, W. Amin, K.A. Ghaffar, C. Toomes, P. Sloan, A.P. Read, J.A. James and N.S. Thakker

    Version of Record online : 9 DEC 2004, DOI: 10.1111/j.1365-2133.2004.06237.x

  15. Papillon–Lefèvre Syndrome with Homozygous Nonsense Mutation of Cathepsin C Gene Presenting with Late-Onset Periodontitis

    Pediatric Dermatology

    Volume 32, Issue 2, March/April 2015, Pages: 292–294, Shivanna Ragunatha, Mudalagirigowda Ramesh, Panagar Anupama, Meenakshi Kapoor and Meenakshi Bhat

    Version of Record online : 3 JUN 2014, DOI: 10.1111/pde.12357

  16. You have free access to this content
    Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome

    Human Mutation

    Volume 20, Issue 1, July 2002, Page: 75, Y. Zhang, P.S. Hart, A.J. Moretti, O.J. Bouwsma, E.M. Fisher, L. Dudlicek, M.J. Pettenati and T.C. Hart

    Version of Record online : 27 JUN 2002, DOI: 10.1002/humu.9040

  17. Inherited Disorders of Cornification

    Standard Article

    Rook's Textbook of Dermatology, Ninth Edition

    Vinzenz Oji, Dieter Metze and Heiko Traupe

    Published Online : 9 OCT 2016, DOI: 10.1002/9781118441213.rtd0066

  18. Genetic studies of craniofacial anomalies: clinical implications and applications

    Orthodontics & Craniofacial Research

    Volume 12, Issue 3, August 2009, Pages: 212–220, TC Hart and PS Hart

    Version of Record online : 13 JUL 2009, DOI: 10.1111/j.1601-6343.2009.01455.x

  19. Identification of genetic risk factors for periodontitis and possible mechanisms of action

    Journal of Clinical Periodontology

    Volume 32, Issue s6, October 2005, Pages: 159–179, Bruno G. Loos, Raymond P. John and Marja L. Laine

    Version of Record online : 26 AUG 2005, DOI: 10.1111/j.1600-051X.2005.00806.x

  20. New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C

    British Journal of Dermatology

    Volume 147, Issue 3, September 2002, Pages: 575–581, M.A.M. Van Steensel, M. Van Geel and P.M. Steijlen

    Version of Record online : 5 SEP 2002, DOI: 10.1046/j.1365-2133.2002.04840.x