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There are 2977878 results for: content related to: Rapp-Hodgkin syndrome and AEC syndrome: are they the same entity?

  1. You have free access to this content
    International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1885–1893, Mary Fete, Hans vanBokhoven, Suzanne E. Clements, Frank McKeon, Dennis R. Roop, Maranke I. Koster, Caterina Missero, Laura D. Attardi, Vivian A. Lombillo, Edward Ratovitski, Meena Julapalli, Derek Ruths, Virginia P. Sybert, Elaine C. Siegfried and Alanna F. Bree

    Article first published online : 7 APR 2009, DOI: 10.1002/ajmg.a.32761

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    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

    Article first published online : 12 AUG 2009, DOI: 10.1002/ajmg.a.32791

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    Facial clefting and oroauditory pathway manifestations in ankyloblepharon–ectodermal defects-cleft lip/palate (AEC) syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1910–1915, Patrick Cole, Daniel A. Hatef, Yoav Kaufman, Amy Magruder, Alanna Bree, Ellen Friedman, Raj Sindwani and Larry H. Hollier Jr.

    Article first published online : 20 AUG 2009, DOI: 10.1002/ajmg.a.32836

  4. You have full text access to this OnlineOpen article
    Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome

    EMBO Molecular Medicine

    Volume 4, Issue 3, March 2012, Pages: 192–205, Giustina Ferone, Helen A. Thomason, Dario Antonini, Laura De Rosa, Bing Hu, Marica Gemei, Huiqing Zhou, Raffaele Ambrosio, David P. Rice, Dario Acampora, Hans van Bokhoven, Luigi Del Vecchio, Maranke I. Koster, Gianluca Tadini, Bradley Spencer-Dene, Michael Dixon, Jill Dixon and Caterina Missero

    Article first published online : 13 JAN 2012, DOI: 10.1002/emmm.201100199

  5. 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

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    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

    Article first published online : 12 AUG 2009, DOI: 10.1002/ajmg.a.32793

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    Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1935–1941, Megan K. Dishop, Alanna F. Bree and M. John Hicks

    Article first published online : 20 AUG 2009, DOI: 10.1002/ajmg.a.32826

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    Light Microscopic Hair Shaft Analysis in Ectodermal Dysplasia Syndromes

    Pediatric Dermatology

    Volume 29, Issue 4, July/August 2012, Pages: 414–420, Stefanie A. Hirano, Ashley R. Mason, Kimberly Salkey, Judith V. Williams and David M. Pariser

    Article first published online : 16 NOV 2011, DOI: 10.1111/j.1525-1470.2011.01606.x

  9. 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

    Article first published online : 11 MAY 2006, DOI: 10.1002/ajmg.a.31271

  10. The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition

    British Journal of Dermatology

    Volume 94, Issue 3, March 1976, Pages: 277–289, R.J. HAY and R.S. WELLS

    Article first published online : 29 JUL 2006, DOI: 10.1111/j.1365-2133.1976.tb04384.x

  11. Rapp–Hodgkin and Hay–Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder

    British Journal of Dermatology

    Volume 163, Issue 3, September 2010, Pages: 624–629, S.E. Clements, T. Techanukul, S.T. Holden, J.E. Mellerio, H. Dorkins, F. Escande and J.A. McGrath

    Article first published online : 20 MAY 2010, DOI: 10.1111/j.1365-2133.2010.09859.x

  12. Bilateral nephroblastoma in familial Hay-Wells syndrome associated with familial reticulate pigmentation of the skin

    American Journal of Medical Genetics

    Volume 110, Issue 2, 15 June 2002, Pages: 164–169, Ricardo Drut, Daniel Pollono and Rosa Mónica Drut

    Article first published online : 8 MAY 2002, DOI: 10.1002/ajmg.10424

  13. Evidence that AEC Syndrome and Bowen–Armstrong Syndrome Are Variable Expressions of the Same Disease

    Pediatric Dermatology

    Volume 16, Issue 2, March/April 1999, Pages: 103–107, Zenteno, Venegas and Kofman-Alfaro

    Article first published online : 4 JAN 2002, DOI: 10.1046/j.1525-1470.1999.99009.x

  14. Severe Skin Erosions and Scalp Infections in AEC Syndrome

    Pediatric Dermatology

    Volume 10, Issue 4, December 1993, Pages: 334–340, Sheryll L. Vanderhooft, Mark J. Stephan and Virginia P. Sybert

    Article first published online : 20 MAR 2008, DOI: 10.1111/j.1525-1470.1993.tb00394.x

  15. 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

    Article first published online : 14 MAY 2012, DOI: 10.1111/j.1365-2133.2012.10888.x

  16. Scalp dermatitis, distinctive hair abnormalities and atopic disease in the ectrodactyly—ectodermal dysplasia—clefting syndrome

    British Journal of Dermatology

    Volume 132, Issue 4, April 1995, Pages: 621–625, R.M. TRÜEB, L. BRUCKNER-TUDERMAN, M. WYSS, M. WIDMER, B. WÜTHRICH and G. BURG

    Article first published online : 29 JUL 2006, DOI: 10.1111/j.1365-2133.1995.tb08722.x

  17. EEC syndrome: Report on 20 new patients, clinical and genetic considerations

    American Journal of Medical Genetics

    Volume 37, Issue 1, September 1990, Pages: 42–53, Elaine S. O. Rodini and A. Richieri-Costa

    Article first published online : 8 JUN 2005, DOI: 10.1002/ajmg.1320370112

  18. 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

  19. Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: Newly recognized findings

    American Journal of Medical Genetics

    Volume 79, Issue 5, 12 October 1998, Pages: 343–346, Piranit N. Kantaputra, Chulabhorn Pruksachatkunakorn and Pramote Vanittanakom

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19981012)79:5<343::AID-AJMG3>3.0.CO;2-K

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    ΔNp63 knockdown mice: A mouse model for AEC syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1942–1947, Maranke I. Koster, Barbara Marinari, Aimee S. Payne, Piranit N. Kantaputra, Antonio Costanzo and Dennis R. Roop

    Article first published online : 13 AUG 2009, DOI: 10.1002/ajmg.a.32794