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Journal Abstract Search

541 related items for PubMed ID: 19825039

  • 1. Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta.
    Hyun HK, Lee SK, Lee KE, Kang HY, Kim EJ, Choung PH, Kim JW.
    Int Endod J; 2009 Nov; 42(11):1039-43. PubMed ID: 19825039
    [Abstract] [Full Text] [Related]

  • 2. Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation.
    Haubek D, Gjørup H, Jensen LG, Juncker I, Nyegaard M, Børglum AD, Poulsen S, Hertz JM.
    Int J Paediatr Dent; 2011 Nov; 21(6):407-12. PubMed ID: 21702852
    [Abstract] [Full Text] [Related]

  • 3. Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.
    El-Sayed W, Shore RC, Parry DA, Inglehearn CF, Mighell AJ.
    Cells Tissues Organs; 2010 Nov; 191(3):235-9. PubMed ID: 20160442
    [Abstract] [Full Text] [Related]

  • 4. Candidate gene strategy reveals ENAM mutations.
    Kang HY, Seymen F, Lee SK, Yildirim M, Tuna EB, Patir A, Lee KE, Kim JW.
    J Dent Res; 2009 Mar; 88(3):266-9. PubMed ID: 19329462
    [Abstract] [Full Text] [Related]

  • 5. A multidisciplinary approach for the diagnosis of hypocalcified amelogenesis imperfecta in two Chilean families.
    Urzúa B, Ortega-Pinto A, Farias DA, Franco E, Morales-Bozo I, Moncada G, Escobar-Pezoa N, Scholz U, Cifuentes V.
    Acta Odontol Scand; 2012 Jan; 70(1):7-14. PubMed ID: 21504268
    [Abstract] [Full Text] [Related]

  • 6. Expression patterns of the Fam83h gene during murine tooth development.
    Lee MJ, Lee SK, Lee KE, Kang HY, Jung HS, Kim JW.
    Arch Oral Biol; 2009 Sep; 54(9):846-50. PubMed ID: 19545854
    [Abstract] [Full Text] [Related]

  • 7. Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta.
    Gutierrez SJ, Chaves M, Torres DM, Briceño I.
    Arch Oral Biol; 2007 May; 52(5):503-6. PubMed ID: 17316551
    [Abstract] [Full Text] [Related]

  • 8. Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI).
    Masuya H, Shimizu K, Sezutsu H, Sakuraba Y, Nagano J, Shimizu A, Fujimoto N, Kawai A, Miura I, Kaneda H, Kobayashi K, Ishijima J, Maeda T, Gondo Y, Noda T, Wakana S, Shiroishi T.
    Hum Mol Genet; 2005 Mar 01; 14(5):575-83. PubMed ID: 15649948
    [Abstract] [Full Text] [Related]

  • 9. Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature.
    Zhang C, Song Y, Bian Z.
    Oral Surg Oral Med Oral Pathol Oral Radiol; 2015 Feb 01; 119(2):e69-76. PubMed ID: 25487982
    [Abstract] [Full Text] [Related]

  • 10. The structure and composition of deciduous enamel affected by local hypoplastic autosomal dominant amelogenesis imperfecta resulting from an ENAM mutation.
    Shore RC, Bäckman B, Elcock C, Brook AH, Brookes SJ, Kirkham J.
    Cells Tissues Organs; 2010 Feb 01; 191(4):301-6. PubMed ID: 19923784
    [Abstract] [Full Text] [Related]

  • 11. Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry.
    Urzúa B, Ortega-Pinto A, Morales-Bozo I, Rojas-Alcayaga G, Cifuentes V.
    Biochem Genet; 2011 Feb 01; 49(1-2):104-21. PubMed ID: 21127961
    [Abstract] [Full Text] [Related]

  • 12. The mineral composition and enamel ultrastructure of hypocalcified amelogenesis imperfecta.
    Wright JT, Duggal MS, Robinson C, Kirkham J, Shore R.
    J Craniofac Genet Dev Biol; 1993 Feb 01; 13(2):117-26. PubMed ID: 8325967
    [Abstract] [Full Text] [Related]

  • 13. FAM83H mutations cause ADHCAI and alter intracellular protein localization.
    Lee SK, Lee KE, Jeong TS, Hwang YH, Kim S, Hu JC, Simmer JP, Kim JW.
    J Dent Res; 2011 Mar 01; 90(3):377-81. PubMed ID: 21118793
    [Abstract] [Full Text] [Related]

  • 14. Identifying polymorphism in enamelin gene in amelogenesis imperfecta (AI).
    Gopinath VK, Yoong TP, Yean CY, Ravichandran M.
    Arch Oral Biol; 2008 Oct 01; 53(10):937-40. PubMed ID: 18466877
    [Abstract] [Full Text] [Related]

  • 15. FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.
    Kim JW, Lee SK, Lee ZH, Park JC, Lee KE, Lee MH, Park JT, Seo BM, Hu JC, Simmer JP.
    Am J Hum Genet; 2008 Feb 01; 82(2):489-94. PubMed ID: 18252228
    [Abstract] [Full Text] [Related]

  • 16. Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification.
    Lee SK, Hu JC, Bartlett JD, Lee KE, Lin BP, Simmer JP, Kim JW.
    Hum Mutat; 2008 Aug 01; 29(8):E95-9. PubMed ID: 18484629
    [Abstract] [Full Text] [Related]

  • 17. Unraveling the science of tooth enamel.
    Bonett JB.
    Penn Dent J (Phila); 2005 Aug 01; ():6-9. PubMed ID: 16173233
    [No Abstract] [Full Text] [Related]

  • 18. The Enamel Phenotype in Homozygous Fam83h Truncation Mice.
    Wang SK, Hu Y, Smith CE, Yang J, Zeng C, Kim JW, Hu JC, Simmer JP.
    Mol Genet Genomic Med; 2019 Jun 01; 7(6):e724. PubMed ID: 31060110
    [Abstract] [Full Text] [Related]

  • 19. Enamel formation and amelogenesis imperfecta.
    Hu JC, Chun YH, Al Hazzazzi T, Simmer JP.
    Cells Tissues Organs; 2007 Jun 01; 186(1):78-85. PubMed ID: 17627121
    [Abstract] [Full Text] [Related]

  • 20. Effects of Fam83h truncation mutation on enamel developmental defects in male C57/BL6J mice.
    Zheng X, Huang W, He Z, Li Y, Li S, Song Y.
    Bone; 2023 Jan 01; 166():116595. PubMed ID: 36272714
    [Abstract] [Full Text] [Related]

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