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There are 27224 results for: content related to: HID and KID syndromes are associated with the same connexin 26 mutation

  1. Overview of skin diseases linked to connexin gene mutations

    International Journal of Dermatology

    Volume 53, Issue 2, February 2014, Pages: 192–205, Lyubov Avshalumova, Jordan Fabrikant and Angie Koriakos

    Version of Record online : 15 MAY 2013, DOI: 10.1111/ijd.12062

  2. Disorders of Keratinization

    Rook's Textbook of Dermatology, Seventh Edition

    M. R. Judge, W. H. I. McLean, C. S. Munro, Pages: 1619–1730, 2008

    Published Online : 4 FEB 2008, DOI: 10.1002/9780470750520.ch34

  3. You have free access to this content
    Connexins: Sensors of epidermal integrity that are therapeutic targets

    FEBS Letters

    Volume 588, Issue 8, April 17, 2014, Pages: 1304–1314, Patricia E. Martin, Jennifer A. Easton, Malcolm B. Hodgins and Catherine S. Wright

    Version of Record online : 4 MAR 2014, DOI: 10.1016/j.febslet.2014.02.048

  4. DNA sequence analysis of GJB2, encoding connexin 26: Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 22, 15 November 2006, Pages: 2401–2415, Hsiao-Yuan Tang, Ping Fang, Patricia A. Ward, Eric Schmitt, Sandra Darilek, Spiros Manolidis, John S. Oghalai, Benjamin B. Roa and Raye Lynn Alford

    Version of Record online : 13 OCT 2006, DOI: 10.1002/ajmg.a.31525

  5. Connecting with connexins

    Australasian Journal of Dermatology

    Volume 54, Issue 4, November 2013, Pages: 287–289, Penelope Williams, Aamir Memon, Tapati Sinha and Alan Fryer

    Version of Record online : 28 JUN 2013, DOI: 10.1111/ajd.12070

  6. 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

  7. G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart–Pumphrey syndrome

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 3, 30 July 2005, Pages: 282–284, Fabiana Alexandrino, Edi Lúcia Sartorato, Antonia Paula Marques-de-Faria and Carlos Eduardo Steiner

    Version of Record online : 10 JUN 2005, DOI: 10.1002/ajmg.a.30822

  8. Gap junction diseases of the skin

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 131C, Issue 1, 15 November 2004, Pages: 12–19, M.A.M. van Steensel

    Version of Record online : 5 OCT 2004, DOI: 10.1002/ajmg.c.30030

  9. Connexin mutations in Brazilian patients with skin disorders with or without hearing loss

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 4, April 2009, Pages: 681–684, Fabiana Alexandrino, Camila Andréa de Oliveira, Renata F. Magalhães, Michelle E.B. Florence, Elemir M. de Souza and Edi Lúcia Sartorato

    Version of Record online : 12 MAR 2009, DOI: 10.1002/ajmg.a.32765

  10. Extending the Phenotypic Spectrum of Keratitis-Ichthyosis-Deafness Syndrome: Report of a Patient with GJB2 (G12R) Connexin 26 Mutation and Unusual Clinical Findings

    Pediatric Dermatology

    Volume 29, Issue 3, May/June 2012, Pages: 349–357, Tamara Lazic, Qiaoli Li, Michael Frank, Jouni Uitto and Linda H. Zhou

    Version of Record online : 20 OCT 2011, DOI: 10.1111/j.1525-1470.2011.01425.x

  11. GJB2-associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype

    The Laryngoscope

    Volume 124, Issue 2, February 2014, Pages: E34–E53, Dylan K. Chan and Kay W. Chang

    Version of Record online : 8 OCT 2013, DOI: 10.1002/lary.24332

  12. Non-syndromic, autosomal-recessive deafness

    Clinical Genetics

    Volume 69, Issue 5, May 2006, Pages: 371–392, MB Petersen and PJ Willems

    Version of Record online : 27 APR 2006, DOI: 10.1111/j.1399-0004.2006.00613.x

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    Connexins in colorectal cancer pathogenesis

    International Journal of Cancer

    Volume 137, Issue 1, 1 July 2015, Pages: 1–11, Solveig Sirnes, Guro E. Lind, Jarle Bruun, Tone A. Fykerud, Marc Mesnil, Ragnhild A. Lothe, Edgar Rivedal, Matthias Kolberg and Edward Leithe

    Version of Record online : 5 MAY 2014, DOI: 10.1002/ijc.28911

  14. You have free access to this content
    Biology and pathobiology of gap junctional channels in hepatocytes

    Hepatology

    Volume 47, Issue 3, March 2008, Pages: 1077–1088, Mathieu Vinken, Tom Henkens, Evelien De Rop, Joanna Fraczek, Tamara Vanhaecke and Vera Rogiers

    Version of Record online : 3 DEC 2007, DOI: 10.1002/hep.22049

  15. You have free access to this content
    Cardiac to cancer: Connecting connexins to clinical opportunity

    FEBS Letters

    Volume 588, Issue 8, April 17, 2014, Pages: 1349–1364, Christina L. Grek, J. Matthew Rhett and Gautam S. Ghatnekar

    Version of Record online : 4 MAR 2014, DOI: 10.1016/j.febslet.2014.02.047

  16. You have free access to this content
    Connexins: a connection with the skin

    Experimental Dermatology

    Volume 9, Issue 2, April 2000, Pages: 77–96, Gabriela Richard

    Version of Record online : 24 DEC 2001, DOI: 10.1034/j.1600-0625.2000.009002077.x

  17. Gap Junctions: Connexin Functions and Roles in Human Disease

    Cell Junctions: Adhesion, Development, and Disease

    Susan E. LaFlamme, Andrew P. Kowalczyk, Pages: 197–216, 2008

    Published Online : 11 APR 2008, DOI: 10.1002/9783527622092.ch10

  18. Mendelian Disorders of Cornification (MEDOC): The Erythrokeratodermas

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

    Daniel Hohl, Stephanie Christen-Zaech, Baruk Mevorah, Pages: 122.1–122.16, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch122

  19. GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form

    American Journal of Medical Genetics Part A

    Volume 133A, Issue 2, 1 March 2005, Pages: 128–131, Andreas R. Janecke, Hans Christian Hennies, Barbara Günther, Gabriele Gansl, Josef Smolle, Elisabeth M. Messmer, Gerd Utermann and Olaf Rittinger

    Version of Record online : 4 JAN 2005, DOI: 10.1002/ajmg.a.30515

  20. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

    Human Mutation

    Volume 16, Issue 3, September 2000, Pages: 190–202, Raquel Rabionet, Paolo Gasparini and Xavier Estivill

    Version of Record online : 6 SEP 2000, DOI: 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I