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There are 13493 results for: content related to: Case of hypohidrotic ectodermal dysplasia caused by a large deletion mutation in the EDA gene

  1. 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

  2. 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

  3. 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

  4. A novel missense mutation in the ectodysplasin-A (EDA) gene underlies X-linked recessive nonsyndromic hypodontia

    International Journal of Dermatology

    Volume 49, Issue 12, December 2010, Pages: 1399–1402, Muhammad Ayub, Fazal Ur-Rehman, Masoom Yasinzai and Wasim Ahmad

    Version of Record online : 23 NOV 2010, DOI: 10.1111/j.1365-4632.2010.04596.x

  5. Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 13, 1 July 2007, Pages: 1510–1513, Karen Helene Ørstavik, Gun Peggy S. Knudsen, Hilde Nordgarden, Eli Ormerod, Petter Strømme, Lazarous P. Lazarou, Lyndon G. Rosser, Trine Prescott and Gunnar Houge

    Version of Record online : 13 JUN 2007, DOI: 10.1002/ajmg.a.31797

  6. 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

  7. Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic ectodermal dysplasia

    British Journal of Dermatology

    Volume 158, Issue 3, March 2008, Pages: 614–617, J. Zhao, R. Hua, X. Zhao, Y. Meng, Y. Ao, Q. Liu, D. Shang, M. Sun, W.H-Y. Lo and X. Zhang

    Version of Record online : 11 FEB 2008, DOI: 10.1111/j.0007-0963.2007.08320.x

  8. You have free access to this content
    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

  9. 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

  10. 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

  11. Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes

    British Journal of Dermatology

    Volume 158, Issue 1, January 2008, Pages: 163–167, A.R. RamaDevi, E.C. Reddy, S. Ranjan and M.D. Bashyam

    Version of Record online : 26 OCT 2007, DOI: 10.1111/j.1365-2133.2007.08231.x

  12. 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

  13. 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

  14. Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds

    European Journal of Oral Sciences

    Volume 116, Issue 5, October 2008, Pages: 412–417, Huali Fan, Xiaoqian Ye, Lisong Shi, Wei Yin, Bo Hua, Guangtai Song, Bin Shi and Zhuan Bian

    Version of Record online : 8 SEP 2008, DOI: 10.1111/j.1600-0722.2008.00555.x

  15. 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

  16. Novel nonsense mutation of the EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia

    The Journal of Dermatology

    Volume 41, Issue 11, November 2014, Pages: 1014–1016, Hao Wang and Le-si Xie

    Version of Record online : 9 OCT 2014, DOI: 10.1111/1346-8138.12644

  17. A novel 1-bp deletion mutation of the EDA gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia

    The Journal of Dermatology

    Volume 41, Issue 7, July 2014, Pages: 659–661, Xiang-Dong Kong, Ning Liu, Hui-Rong Shi and Yu-Xia Yang

    Version of Record online : 2 JUL 2014, DOI: 10.1111/1346-8138.12431

  18. Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia

    American Journal of Medical Genetics

    Volume 100, Issue 3, 1 May 2001, Pages: 191–197, Krzysztof Kobielak, Agnieszka Kobielak, Jadwiga Roszkiewicz, Jolanta Wierzba, Janusz Limon and Wiestaw Henryk Trzeciak

    Version of Record online : 9 APR 2001, DOI: 10.1002/ajmg.1225

  19. Case of X-linked hypohidrotic ectodermal dysplasia with a novel EDA missense mutation

    The Journal of Dermatology

    Volume 42, Issue 9, September 2015, Pages: 907–908, Masahito Yasuda, Chikako Kishi, Yoko Yokoyama, Hiroo Amano and Osamu Ishikawa

    Version of Record online : 5 JUN 2015, DOI: 10.1111/1346-8138.12959

  20. You have free access to this content
    Recombinant EDA or Sonic Hedgehog rescue the branching defect in Ectodysplasin A pathway mutant salivary glands in vitro

    Developmental Dynamics

    Volume 239, Issue 10, October 2010, Pages: 2674–2684, K.L. Wells, C. Mou, D.J. Headon and A.S. Tucker

    Version of Record online : 27 AUG 2010, DOI: 10.1002/dvdy.22406