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There are 1622044 results for: content related to: Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation

  1. Diseases of the tooth: the genetic and molecular basis of inherited anomalies affecting the dentition

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 2, Issue 2, March/April 2013, Pages: 183–212, Martyn T. Cobourne and Paul T. Sharpe

    Version of Record online : 25 MAY 2012, DOI: 10.1002/wdev.66

  2. All enamel is not created equal:Supports from a novel FAM83H mutation

    American Journal of Medical Genetics Part A

    Volume 170, Issue 1, January 2016, Pages: 273–276, Piranit Nik Kantaputra, Worrachet Intachai and Prim Auychai

    Version of Record online : 20 OCT 2015, DOI: 10.1002/ajmg.a.37406

  3. Enamel–Renal–Gingival syndrome, hypodontia, and a novel FAM20A mutation

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 2124–2128, Piranit Nik Kantaputra, Chotika Bongkochwilawan, Massupa Kaewgahya, Atsushi Ohazama, Hulya Kayserili, Arzu Pinar Erdem, Oya Aktoren and Yeliz Guven

    Version of Record online : 22 APR 2014, DOI: 10.1002/ajmg.a.36579

  4. Brachyolmia with amelogenesis imperfecta: Further evidence of a distinct entity

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 3, March 2009, Pages: 532–534, D.R. Bertola, R. Antequera, M.J. Rodovalho, R.S. Honjo, L.M.J. Albano, I.M. Furquim, L.A. Oliveira and C.A. Kim

    Version of Record online : 11 FEB 2009, DOI: 10.1002/ajmg.a.32661

  5. Enamel-renal-gingival syndrome and FAM20A mutations

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 1–9, Piranit Nik Kantaputra, Massupa Kaewgahya, Udomrat Khemaleelakul, Prapai Dejkhamron, Suchitra Sutthimethakorn, Visith Thongboonkerd and Anak Iamaroon

    Version of Record online : 20 NOV 2013, DOI: 10.1002/ajmg.a.36187

  6. You have free access to this content
    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

    Version of Record online : 13 AUG 2009, DOI: 10.1002/ajmg.a.32794

  7. The Protein Composition of Normal and Developmentally Defective Enamel

    Ciba Foundation Symposium 205 - Dental Enamel

    J. Tim Wright, Kathie Hall, Mitsuo Yamauchi, Pages: 85–106, 2007

    Published Online : 28 SEP 2007, DOI: 10.1002/9780470515303.ch7

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    Adaptor protein complex 2–mediated, clathrin-dependent endocytosis, and related gene activities, are a prominent feature during maturation stage amelogenesis

    Journal of Bone and Mineral Research

    Volume 28, Issue 3, March 2013, Pages: 672–687, Rodrigo S Lacruz, Steven J Brookes, Xin Wen, Jaime M Jimenez, Susanna Vikman, Ping Hu, Shane N White, S Petter Lyngstadaas, Curtis T Okamoto, Charles E Smith and Michael L Paine

    Version of Record online : 15 FEB 2013, DOI: 10.1002/jbmr.1779

  9. Molecular Biology of Hereditary Enamel Defects

    Ciba Foundation Symposium 205 - Dental Enamel

    Michael J. Aldred, Peter J. M. Crawford, Pages: 200–211, 2007

    Published Online : 28 SEP 2007, DOI: 10.1002/9780470515303.ch14

  10. Response to: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies by Dr. Judith Hall

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 1, 15 May 2005, Page: 115, Piranit Nik Kantaputra and Pranoot Tanpaiboon

    Version of Record online : 18 FEB 2005, DOI: 10.1002/ajmg.a.30634

  11. Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al.

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 1, 1 July 2004, Pages: 1–5, Piranit Nik Kantaputra

    Version of Record online : 17 DEC 2003, DOI: 10.1002/ajmg.a.20642

  12. Enamelin/ameloblastin gene polymorphisms in autosomal amelogenesis imperfecta among Syrian families

    Journal of Investigative and Clinical Dentistry

    Volume 2, Issue 1, February 2011, Pages: 16–22, Mayssoon Dashash, Mohamed Riza Bazrafshani, Kay Poulton, Saaed Jaber, Emad Naeem and Anthony Stevenson Blinkhorn

    Version of Record online : 8 NOV 2010, DOI: 10.1111/j.2041-1626.2010.00038.x

  13. Mesomelic dysplasia, Kantaputra type: Clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 4, 1 August 2004, Pages: 404–409, M.L. Kwee, J.A. van de Sluijs, J.M.G. van Vugt, L.C.D. Wijnaendts and J.J.P. Gille

    Version of Record online : 18 MAY 2004, DOI: 10.1002/ajmg.a.30120

  14. The molecular etiologies and associated phenotypes of amelogenesis imperfecta

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 23, 1 December 2006, Pages: 2547–2555, J. Timothy Wright

    Version of Record online : 12 JUL 2006, DOI: 10.1002/ajmg.a.31358

  15. Re: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies [Kantaputra et al. 2004. Am J Med Genet 130A:181–190]

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 1, 15 May 2005, Page: 114, Judith G. Hall

    Version of Record online : 18 FEB 2005, DOI: 10.1002/ajmg.a.30633

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    A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 6, November 2015, Pages: 543–549, James A. Poulter, Claire E. L. Smith, Gina Murrillo, Sandra Silva, Sally Feather, Marianella Howell, Laura Crinnion, David T. Bonthron, Ian M. Carr, Christopher M. Watson, Chris F. Inglehearn and Alan J. Mighell

    Version of Record online : 4 OCT 2015, DOI: 10.1002/mgg3.164

  17. Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome

    American Journal of Medical Genetics Part A

    Volume 130A, Issue 2, 1 October 2004, Pages: 181–190, Piranit N. Kantaputra, Pranoot Tanpaiboon, Kevalee Unachak and Verayuth Praphanphoj

    Version of Record online : 10 SEP 2004, DOI: 10.1002/ajmg.a.30079

  18. Inherited Enamel Defects

    Ciba Foundation Symposium 205 - Dental Enamel

    Derek J. Chadwick, Gail Cardew, Pages: 175–186, 2007

    Published Online : 28 SEP 2007, DOI: 10.1002/9780470515303.ch12

  19. Kantaputra mesomelic dysplasia: A second reported family

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 1, 1 July 2004, Pages: 6–11, Deborah J. Shears, Amaka Offiah, Paul Rutland, Tony Sirimanna, Maria Bitner-Glindzicz and Christine Hall

    Version of Record online : 20 MAY 2004, DOI: 10.1002/ajmg.a.20640

  20. You have free access to this content
    Interventions for the restorative care of amelogenesis imperfecta in children and adolescents

    Intervention Review

    The Cochrane Library

    Mayssoon Dashash, C Albert Yeung, Issam Jamous and Anthony Blinkhorn

    Published Online : 6 JUN 2013, DOI: 10.1002/14651858.CD007157.pub2