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There are 13470 results for: content related to: Novel Connexin 43 (GJA1) mutation causes oculo–dento–digital dysplasia with curly hair

  1. You have free access to this content
    GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

    Human Mutation

    Volume 30, Issue 5, May 2009, Pages: 724–733, William A. Paznekas, Barbara Karczeski, Sascha Vermeer, R. Brian Lowry, Martin Delatycki, Faivre Laurence, Pasi A. Koivisto, Lionel Van Maldergem, Simeon A. Boyadjiev, Joann N. Bodurtha and Ethylin Wang Jabs

    Version of Record online : 31 MAR 2009, DOI: 10.1002/humu.20958

  2. A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 2, 15 January 2005, Pages: 171–174, M.A.M. van Steensel, L. Spruijt, I. van der Burgt, R.S. Bladergroen, M. Vermeer, P.M. Steijlen and M. van Geel

    Version of Record online : 18 NOV 2004, DOI: 10.1002/ajmg.a.30412

  3. Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43

    The Journal of Dermatology

    Volume 41, Issue 12, December 2014, Pages: 1095–1097, Toshiaki Kogame, Teruki Dainichi, Yutaka Shimomura, Miki Tanioka, Kenji Kabashima and Yoshiki Miyachi

    Version of Record online : 12 NOV 2014, DOI: 10.1111/1346-8138.12682

  4. Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 4, 15 February 2007, Pages: 360–363, M. Vreeburg, E.A. de Zwart-Storm, M.I. Schouten, R.G.L. Nellen, D. Marcus-Soekarman, M. Devies, M. van Geel and M.A.M. van Steensel

    Version of Record online : 26 JAN 2007, DOI: 10.1002/ajmg.a.31558

  5. Evidence for genetic anticipation in the oculodentodigital syndrome

    American Journal of Medical Genetics

    Volume 71, Issue 1, 11 July 1997, Pages: 36–41, Robert E. Shapiro, John W. Griffin and O. Colin Stine

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970711)71:1<36::AID-AJMG7>3.0.CO;2-O

  6. Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia

    American Journal of Medical Genetics Part A

    Volume 139A, Issue 1, 15 November 2005, Pages: 48–49, Jari Honkaniemi, Juha-Pekka Kalkkila, Pasi Koivisto, Veikko Kähärä, Terho Latvala and Kalle Simola

    Version of Record online : 12 OCT 2005, DOI: 10.1002/ajmg.a.30925

  7. 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

  8. You have free access to this content
    Elements of morphology: Standard terminology for the hands and feet

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 1, January 2009, Pages: 93–127, Leslie G. Biesecker, Jon M. Aase, Carol Clericuzio, Fiorella Gurrieri, I. Karen Temple and Helga Toriello

    Version of Record online : 5 JAN 2009, DOI: 10.1002/ajmg.a.32596

    Corrected by:

    Corrigendum: Corrigendum to “Elements of Morphology: Standard Terminology for the Hands and Feet. Am J Med Genet 2009 149A:93–127”

    Vol. 158A, Issue 7, 1813, Version of Record online: 18 JUN 2012

  9. The clinical atlas of Greig cephalopolysyndactyly syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 5, 1 March 2008, Pages: 548–557, Katherine Balk and Leslie G. Biesecker

    Version of Record online : 1 FEB 2008, DOI: 10.1002/ajmg.a.32167

  10. Genetics and Genodermatoses

    Rook's Textbook of Dermatology, Seventh Edition

    J. I. Harper, R. C. Trembath, Pages: 383–468, 2008

    Published Online : 4 FEB 2008, DOI: 10.1002/9780470750520.ch12

  11. A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation

    Clinical Genetics

    Volume 82, Issue 1, July 2012, Pages: 48–55, S Khan, S Basit, F K Zimri, N Ali, G Ali, M Ansar and W Ahmad

    Version of Record online : 27 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01698.x

  12. Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I

    Clinical Genetics

    Volume 67, Issue 5, May 2005, Pages: 429–433, H Fujioka, T Ariga, K Horiuchi, M Otsu, H Igawa, K Kawashima, Y Yamamoto, T Sugihara and Y Sakiyama

    Version of Record online : 10 MAR 2005, DOI: 10.1111/j.1399-0004.2005.00431.x

  13. Ectodermal Dysplasias

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

    Yuka Asai, Alan D. Irvine, Pages: 127.1–127.104, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch127

  14. Filippi syndrome: Further clinical characterization

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 14, 15 July 2008, Pages: 1848–1852, Agatino Battaglia, Tiziana Filippi, Silvia Pusceddu and Charles A. Williams

    Version of Record online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32400

  15. You have free access to this content
    Mutations in connexin genes and disease

    European Journal of Clinical Investigation

    Volume 41, Issue 1, January 2011, Pages: 103–116, Anna Pfenniger, Annelise Wohlwend and Brenda R. Kwak

    Version of Record online : 14 SEP 2010, DOI: 10.1111/j.1365-2362.2010.02378.x

  16. You have free access to this content
    Syndromic and non-syndromic disease-linked Cx43 mutations

    FEBS Letters

    Volume 588, Issue 8, April 17, 2014, Pages: 1339–1348, Dale W. Laird

    Version of Record online : 14 JAN 2014, DOI: 10.1016/j.febslet.2013.12.022

  17. Second family with the boston-type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2352–2357, Alexander Janssen, Mohammad J. Hosen, Philippe Jeannin, Paul J. Coucke, Anne De Paepe and Olivier M. Vanakker

    Version of Record online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36077

  18. Complex toe syndactyly with characteristic facial phenotype: A new syndrome?

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 13, 1 July 2008, Pages: 1725–1728, Nara Lygia Macena Sobreira, Mirlene Cecilia S.P. Cernach, Decio Brunoni and Ana Beatriz Alvarez Perez

    Version of Record online : 16 JUN 2008, DOI: 10.1002/ajmg.a.32377

  19. The popliteal pterygium syndrome: Report of a new family and review of the literature

    American Journal of Medical Genetics

    Volume 36, Issue 2, June 1990, Pages: 196–208, Alasdair Hunter

    Version of Record online : 5 JUN 2005, DOI: 10.1002/ajmg.1320360213

  20. Feingold syndrome: Report of a new family and review

    American Journal of Medical Genetics

    Volume 73, Issue 1, 28 November 1997, Pages: 55–60, W. Courtens, S. Levi, F. Verbelen, A. Verloes and E. Vamos

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19971128)73:1<55::AID-AJMG11>3.0.CO;2-Q