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There are 15742 results for: content related to: X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families

  1. 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

  2. Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease

    Clinical Genetics

    Volume 79, Issue 2, February 2011, Pages: 176–182, V Desai, A Donsante, KJ Swoboda, M Martensen, J Thompson and SG Kaler

    Version of Record online : 19 APR 2010, DOI: 10.1111/j.1399-0004.2010.01451.x

  3. The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation

    British Journal of Dermatology

    Volume 166, Issue 3, March 2012, Pages: 678–681, C. Cluzeau, S. Hadj-Rabia, E. Bal, F. Clauss, A. Munnich, C. Bodemer, D. Headon and A. Smahi

    Version of Record online : 5 DEC 2011, DOI: 10.1111/j.1365-2133.2011.10620.x

  4. Molecular evidence for the role of X-chromosome inactivation in linear presentation of X-linked hypohidrotic ectodermal dysplasia

    Clinical and Experimental Dermatology

    Volume 37, Issue 2, March 2012, Pages: 186–188, M. Pavlovsky, D. Fuchs-Telem, J. Nousbeck, O. Sarig and E. Sprecher

    Version of Record online : 25 JUL 2011, DOI: 10.1111/j.1365-2230.2011.04135.x

  5. Whole saliva in X-linked hypohidrotic ectodermal dysplasia

    International Journal of Paediatric Dentistry

    Volume 17, Issue 3, May 2007, Pages: 155–162, MICHALA ORON LEXNER, ALLAN BARDOW, JENS MICHAEL HERTZ, LIS ALMER, BIRGITTE NAUNTOFTE and SVEN KREIBORG

    Version of Record online : 19 FEB 2007, DOI: 10.1111/j.1365-263X.2006.00812.x

  6. CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2134–2140, Hector J. Perez-Cano, Rosa E. Garnica-hayashi and Juan C. Zenteno

    Version of Record online : 16 SEP 2009, DOI: 10.1002/ajmg.a.32727

  7. Anthropometric and cephalometric measurements in X-linked hypohidrotic ectodermal dysplasia

    Orthodontics & Craniofacial Research

    Volume 10, Issue 4, November 2007, Pages: 203–215, MO Lexner, A Bardow, J Bjorn-Jorgensen, JM Hertz, L Almer and S Kreiborg

    Version of Record online : 29 OCT 2007, DOI: 10.1111/j.1601-6343.2007.00402.x

  8. Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 1, 1 January 2006, Pages: 31–39, Karen Helene Ørstavik, Marianne Kristiansen, Gun Peggy Knudsen, Kari Storhaug, Åshild Vege, Kristin Eiklid, Tore G Abrahamsen, Asma Smahi and Jon Steen-Johnsen

    Version of Record online : 6 DEC 2005, DOI: 10.1002/ajmg.a.31026

  9. X chromosome inactivation patterns in haematopoietic cells of female carriers of X-linked severe combined immunodeficiency determined by methylation analysis at the hypervariable DXS255 locus

    Clinical Genetics

    Volume 42, Issue 3, September 1992, Pages: 114–121, R. W. Hendrlks, M. E. M. Kraakman and R. K. B. Schuurman

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1992.tb03221.x

  10. 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

  11. X-chromosome inactivation patterns in females with Prader–Willi syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 5, 1 March 2007, Pages: 469–475, Merlin G. Butler, Mariana F. Theodoro, Douglas C. Bittel, Paul J. Kuipers, Daniel J. Driscoll and Zohreh Talebizadeh

    Version of Record online : 11 OCT 2006, DOI: 10.1002/ajmg.a.31506

  12. Evidence that in X-linked immunodeficiency with hyperimmunoglobulinemia M the intrinsic immunoglobulin heavy chain class switch mechanism is intact

    European Journal of Immunology

    Volume 20, Issue 12, December 1990, Pages: 2603–2608, Rudolf W. Hendriks, Margriet E. M. Kraakman, Ian W. Craig, Teresa Espanol and Ruud K. B. Schuurman

    Version of Record online : 14 DEC 2005, DOI: 10.1002/eji.1830201212

  13. X-chromosome inactivation: role in skin disease expression

    Acta Paediatrica

    Volume 95, Issue S451, April 2006, Pages: 16–23, Rudolf Happle

    Version of Record online : 2 JAN 2007, DOI: 10.1111/j.1651-2227.2006.tb02384.x

  14. 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

  15. 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

  16. 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

  17. You have free access to this content
    Phenotype–genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation

    Journal of Thrombosis and Haemostasis

    Volume 13, Issue 4, April 2015, Pages: 530–539, C. P. Radic, L. C. Rossetti, M. M. Abelleyro, T. Tetzlaff, M. Candela, D. Neme, G. Sciuccati, M. Bonduel, E. Medina-Acosta, I. B. Larripa, M. de Tezanos Pinto and C. D. De Brasi

    Version of Record online : 14 MAR 2015, DOI: 10.1111/jth.12854

  18. Random X chromosome methylation patterns in the carriers with clinical phenotypic expressions of X-linked recessive bulbospinal neuronopathy

    Acta Neurologica Scandinavica

    Volume 100, Issue 4, October 1999, Pages: 249–253, R.-S. Chen, C.-C. Huang, N.-S. Chu, C.C. Cheng and Y.-H. Wei

    Version of Record online : 29 JAN 2009, DOI: 10.1111/j.1600-0404.1999.tb00389.x

  19. Hemophagocytic lymphohistiocytosis in a female patient due to a heterozygous XIAP mutation and skewed X chromosome inactivation

    Pediatric Blood & Cancer

    Volume 62, Issue 7, July 2015, Pages: 1288–1290, Jennifer R. Holle, Rebecca A. Marsh, Anna Maria Holdcroft, Stella M. Davies, Lijun Wang, Kejian Zhang and Michael B. Jordan

    Version of Record online : 19 MAR 2015, DOI: 10.1002/pbc.25483

  20. 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