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There are 1547 results for: content related to: Rapp–Hodgkin ectodermal dysplasia syndrome: The clinical and molecular overlap with Hay–Wells syndrome

  1. You have free access to this content
    Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1948–1951, Tuula Rinne, Emine Bolat, Rowdy Meijer, Hans Scheffer and Hans van Bokhoven

    Version of Record online : 12 AUG 2009, DOI: 10.1002/ajmg.a.32793

  2. P63 gene mutations and human developmental syndromes

    American Journal of Medical Genetics

    Volume 112, Issue 3, 15 October 2002, Pages: 284–290, Han G. Brunner, Ben C.J. Hamel and Hans van Bokhoven

    Version of Record online : 25 SEP 2002, DOI: 10.1002/ajmg.10778

  3. Rapp–Hodgkin syndrome and the tail of p63

    Clinical and Experimental Dermatology

    Volume 30, Issue 2, March 2005, Pages: 183–186, I. Chan, J. A. McGrath and S. Kivirikko

    Version of Record online : 22 FEB 2005, DOI: 10.1111/j.1365-2230.2004.01715.x

  4. Pattern of p63 mutations and their phenotypes—update

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 13, 1 July 2006, Pages: 1396–1406, Tuula Rinne, Ben Hamel, Hans van Bokhoven and Han G. Brunner

    Version of Record online : 11 MAY 2006, DOI: 10.1002/ajmg.a.31271

  5. Spectrum of Phenotypic Manifestations from a Single Point Mutation of the p63 Gene, Including New Cutaneous and Immunologic Findings

    Pediatric Dermatology

    Volume 22, Issue 5, September 2005, Pages: 415–419, Jennifer A. Steele, Heather Hansen, Pamela Arn and Pearl C. Kwong

    Version of Record online : 27 SEP 2005, DOI: 10.1111/j.1525-1470.2005.00105.x

  6. Molecular evidence that AEC syndrome and Rapp–Hodgkin syndrome are variable expression of a single genetic disorder

    Clinical Genetics

    Volume 66, Issue 1, July 2004, Pages: 79–80, DR Bertola, CA Kim, LMJ Albano, H Scheffer, R Meijer and H Van Bokhoven

    Version of Record online : 16 JUN 2004, DOI: 10.1111/j.0009-9163.2004.00278.x

  7. Further phenotypic and genetic variation in ADULT syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 22, 15 November 2006, Pages: 2495–2500, Tom T. Reisler, Michael A. Patton and Peter P.J. Meagher

    Version of Record online : 13 OCT 2006, DOI: 10.1002/ajmg.a.31482

  8. Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology

    British Journal of Dermatology

    Volume 167, Issue 1, July 2012, Pages: 134–144, S.E. Clements, T. Techanukul, J.E. Lai-Cheong, J.B. Mee, A.P. South, C. Pourreyron, N.P. Burrows, J.E. Mellerio and J.A. McGrath

    Version of Record online : 14 MAY 2012, DOI: 10.1111/j.1365-2133.2012.10888.x

  9. Hay-Wells syndrome in a child with mutation in the TP73L gene

    JDDG: Journal der Deutschen Dermatologischen Gesellschaft

    Volume 5, Issue 10, October 2007, Pages: 919–923, Natalie Garcia Bartels, Luitgard M. Neumann, Anna Mleczko, Katharina Rubach, Hartmut Peters, Rainer Rossi, Wolfram Sterry and Ulrike Blume-Peytavi

    Version of Record online : 1 OCT 2007, DOI: 10.1111/j.1610-0387.2007.06379.x

  10. You have free access to this content
    Craniofacial and anthropometric phenotype in ankyloblepharon–ectodermal defects–cleft lip/palate syndrome (Hay–Wells syndrome) in a cohort of 17 patients

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1916–1921, V. Reid Sutton, Katie Plunkett, Diane X. Dang, Richard A. Lewis, Alanna F. Bree and Carlos A. Bacino

    Version of Record online : 12 AUG 2009, DOI: 10.1002/ajmg.a.32791

  11. You have free access to this content
    p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly

    Journal of Orthopaedic Research

    Volume 22, Issue 1, January 2004, Pages: 1–5, V. Berdón-Zapata, M. Granillo-Álvarez, M. Valdés-Flores, J. E. García-Ortiz, S. Kofman-Alfaro and J. C. Zenteno

    Version of Record online : 1 JAN 2006, DOI: 10.1016/S0736-0266(03)00166-9

  12. De novo missense mutation, S541Y, in the p63 gene underlying Rapp–Hodgkin ectodermal dysplasia syndrome

    Clinical and Experimental Dermatology

    Volume 30, Issue 3, May 2005, Pages: 282–285, V. Shotelersuk, S. Janklat, P. Siriwan and S. Tongkobpetch

    Version of Record online : 30 MAR 2005, DOI: 10.1111/j.1365-2230.2005.01722.x

  13. EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma

    American Journal of Medical Genetics Part A

    Volume 120A, Issue 3, 30 July 2003, Pages: 370–373, Keiko Akahoshi, Satoru Sakazume, Kenjiro Kosaki, Hirofumi Ohashi and Yoshimitsu Fukushima

    Version of Record online : 9 APR 2003, DOI: 10.1002/ajmg.a.20064

  14. The expanding panorama of split hand foot malformation

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 13, 1 July 2006, Pages: 1359–1365, Donald Basel, Michael W. Kilpatrick and Petros Tsipouras

    Version of Record online : 8 JUN 2006, DOI: 10.1002/ajmg.a.31304

  15. Ectodermal dysplasia showing clinical overlap between AEC, Rapp–Hodgkin and CHAND syndromes

    Clinical and Experimental Dermatology

    Volume 29, Issue 5, September 2004, Pages: 486–488, M. T. Sahin, A. Türel-Ermertcan, I. Chan, J. A. McGrath and S. Öztürkcan

    Version of Record online : 3 SEP 2004, DOI: 10.1111/j.1365-2230.2004.01584.x

  16. EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis

    British Journal of Dermatology

    Volume 146, Issue 2, February 2002, Pages: 216–220, A.P. South, G.H.S. Ashton, C. Willoughby, I.H. Ellis, O. Bleck, T. Hamada, G. Mannion, V. Wessagowit, T. Hashimoto, R.A.J. Eady and J.A. Mcgrath

    Version of Record online : 9 APR 2002, DOI: 10.1046/j.1365-2133.2002.04638.x

  17. A novel p63 sterile alpha motif (SAM) domain mutation in a Japanese patient with ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome without ankyloblepharon

    British Journal of Dermatology

    Volume 149, Issue 2, August 2003, Pages: 395–399, K. Tsutsui, Y. Asai, A. Fujimoto, M. Yamamoto, M. Kubo and N. Hatta

    Version of Record online : 22 AUG 2003, DOI: 10.1046/j.1365-2133.2003.05423.x

  18. A Novel Heterozygous Point Mutation in the p63 Gene in a Patient with Ectodermal Dysplasia Associated with B-Cell Leukemia

    Pediatric Dermatology

    Volume 28, Issue 6, November/December 2011, Pages: 707–710, Miguel Cabanillas, Antonio Torrelo, Benigno Monteagudo, Oscar Suárez-Amor, Aquilina Ramírez-Santos, Daniel González-Vilas and Cristina de las Heras

    Version of Record online : 9 SEP 2011, DOI: 10.1111/j.1525-1470.2011.01474.x

  19. Split-hand/split-foot malformation with paternal mutation in the p63 gene

    Prenatal Diagnosis

    Volume 21, Issue 13, December 2001, Pages: 1119–1122, Ingrid Witters, Hans Van Bokhoven, A. Goossens, Frans-André Van Assche and Jean-Pierre Fryns

    Version of Record online : 8 JAN 2002, DOI: 10.1002/pd.181

  20. EEC- and ADULT-Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 894–904, Paola Monti, Debora Russo, Renata Bocciardi, Giorgia Foggetti, Paola Menichini, Maria T. Divizia, Margherita Lerone, Claudio Graziano, Anita Wischmeijer, Hector Viadiu, Roberto Ravazzolo, Alberto Inga and Gilberto Fronza

    Version of Record online : 2 APR 2013, DOI: 10.1002/humu.22304