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There are 8050 results for: content related to: Mutations in EDAR account for one-quarter of non- ED1 -related hypohidrotic ectodermal dysplasia

  1. A Mongolian patient with hypohidrotic ectodermal dysplasia with a novel P121S variant in EDARADD

    Orthodontics & Craniofacial Research

    Volume 13, Issue 2, May 2010, Pages: 114–117, N Suda, A Bazar, O Bold, B Jigjid, A Garidkhuu, G Ganburged and K Moriyama

    Version of Record online : 19 APR 2010, DOI: 10.1111/j.1601-6343.2010.01484.x

  2. A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India

    British Journal of Dermatology

    Volume 166, Issue 4, April 2012, Pages: 819–829, M.D. Bashyam, A.K. Chaudhary, E.C. Reddy, V. Reddy, V. Acharya, H.A. Nagarajaram, A.R.R. Devi, L. Bashyam, A.B. Dalal, N. Gupta, M. Kabra, M. Agarwal, S.R. Phadke, R. Tainwala, R. Kumar and S.V. Hariharan

    Version of Record online : 5 MAR 2012, DOI: 10.1111/j.1365-2133.2011.10707.x

  3. Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia

    Australasian Journal of Dermatology

    Volume 52, Issue 1, February 2011, Pages: 37–42, Nosheen Bibi, Saeed Ahmad, Wasim Ahmad and Muhammad Naeem

    Version of Record online : 23 AUG 2010, DOI: 10.1111/j.1440-0960.2010.00685.x

  4. X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings

    Clinical Genetics

    Volume 78, Issue 3, September 2010, Pages: 257–266, F Clauss, N Chassaing, A Smahi, MC Vincent, P Calvas, M Molla, H Lesot, Y Alembik, S Hadj-Rabia, C Bodemer, MC Manière and M Schmittbuhl

    Version of Record online : 24 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01376.x

  5. Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases

    British Journal of Dermatology

    Volume 162, Issue 5, May 2010, Pages: 1044–1048, N. Chassaing, C. Cluzeau, E. Bal, P. Guigue, M-C. Vincent, G. Viot, D. Ginisty, A. Munnich, A. Smahi and P. Calvas

    Version of Record online : 5 MAR 2010, DOI: 10.1111/j.1365-2133.2010.09670.x

  6. Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype–phenotype correlation

    Oral Diseases

    Volume 21, Issue 8, November 2015, Pages: 994–1000, B Zeng, H Lu, X Xiao, L Zhou, J Lu, L Zhu, D Yu and W Zhao

    Version of Record online : 24 OCT 2015, DOI: 10.1111/odi.12376

  7. You have free access to this content
    Ectodysplasin receptor-mediated signaling is essential for embryonic submandibular salivary gland development

    The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology

    Volume 271A, Issue 2, April 2003, Pages: 322–331, Tina Jaskoll, Yan-Min Zhou, Gary Trump and Michael Melnick

    Version of Record online : 5 MAR 2003, DOI: 10.1002/ar.a.10045

  8. 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

  9. Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 20, 15 October 2008, Pages: 2657–2662, Hala Mégarbané, Céline Cluzeau, Christine Bodemer, Sylvie Fraïtag, Myrna Chababi-Atallah, André Mégarbané and Asma Smahi

    Version of Record online : 24 SEP 2008, DOI: 10.1002/ajmg.a.32509

  10. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus

    Human Mutation

    Volume 28, Issue 7, July 2007, Pages: 703–709, E. Bal, L. Baala, C. Cluzeau, F. El Kerch, K. Ouldim, S. Hadj-Rabia, C. Bodemer, A. Munnich, G. Courtois, A. Sefiani and A. Smahi

    Version of Record online : 12 MAR 2007, DOI: 10.1002/humu.20500

  11. Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

    American Journal of Medical Genetics Part A

    Volume 161, Issue 4, April 2013, Pages: 671–678, Julie Plaisancié, Isabelle Bailleul-Forestier, Véronique Gaston, Fréderic Vaysse, Didier Lacombe, Muriel Holder-Espinasse, Marc Abramowicz, Christine Coubes, Ghislaine Plessis, Laurence Faivre, Bénédicte Demeer, Catherine Vincent-Delorme, Hélène Dollfus, Sabine Sigaudy, Encarna Guillén-Navarro, Alain Verloes, Philippe Jonveaux, Dominique Martin-Coignard, Estelle Colin, Eric Bieth, Patrick Calvas and Nicolas Chassaing

    Version of Record online : 7 FEB 2013, DOI: 10.1002/ajmg.a.35747

  12. Ectodermal Dysplasias

    Standard Article

    Rook's Textbook of Dermatology, Ninth Edition

    Peter Itin

    Published Online : 9 OCT 2016, DOI: 10.1002/9781118441213.rtd0068

  13. You have free access to this content
    Molecular aspects of hypohidrotic ectodermal dysplasia

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 2031–2036, Marja L. Mikkola

    Version of Record online : 13 AUG 2009, DOI: 10.1002/ajmg.a.32855

  14. Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia

    Orthodontics & Craniofacial Research

    Volume 14, Issue 3, August 2011, Pages: 156–159, SK Naqvi, N Wasif, H Javaid and W Ahmad

    Version of Record online : 14 JUL 2011, DOI: 10.1111/j.1601-6343.2011.01521.x

  15. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia

    British Journal of Dermatology

    Volume 153, Issue 1, July 2005, Pages: 46–50, M. Naeem, D. Muhammad and W. Ahmad

    Version of Record online : 27 JUN 2005, DOI: 10.1111/j.1365-2133.2005.06642.x

  16. You have free access to this content
    Ectodermal dysplasias: Clinical and molecular review

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1980–2002, Átila F. Visinoni, Toni Lisboa-Costa, Nina A.B. Pagnan and Eleidi A. Chautard-Freire-Maia

    Version of Record online : 13 AUG 2009, DOI: 10.1002/ajmg.a.32864

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    From ectodermal dysplasia to selective tooth agenesis

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 2037–2041, Gabriele I. Mues, Rachel Griggs, Andrew J. Hartung, Greg Whelan, Lyle G. Best, Anand K. Srivastava and Rena D'Souza

    Version of Record online : 5 JUN 2009, DOI: 10.1002/ajmg.a.32801

  18. A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia

    American Journal of Medical Genetics Part A

    Volume 170, Issue 1, January 2016, Pages: 249–253, Sigrun Wohlfart, Stephan Söder, Asma Smahi and Holm Schneider

    Version of Record online : 5 OCT 2015, DOI: 10.1002/ajmg.a.37412

  19. Ectodermal dysplasias

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

    Volume 131C, Issue 1, 15 November 2004, Pages: 45–51, Peter H. Itin and Susanna K. Fistarol

    Version of Record online : 5 OCT 2004, DOI: 10.1002/ajmg.c.30033

  20. Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia

    Clinical Genetics

    Volume 75, Issue 6, June 2009, Pages: 582–584, Y Shimomura, M Wajid, J Weiser, L Kraemer, Y Ishii, V Lombillo, SJ Bale and AM Christiano

    Version of Record online : 5 MAY 2009, DOI: 10.1111/j.1399-0004.2009.01178.x