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PUBMED FOR HANDHELDS

Journal Abstract Search


222 related items for PubMed ID: 23375655

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  • 3. Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant.
    Lepperdinger U, Maurer E, Witsch-Baumgartner M, Stigler R, Zschocke J, Lussi A, Kapferer-Seebacher I.
    Clin Oral Investig; 2020 Oct; 24(10):3519-3525. PubMed ID: 32034543
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  • 6. STIM1 and SLC24A4 Are Critical for Enamel Maturation.
    Wang S, Choi M, Richardson AS, Reid BM, Seymen F, Yildirim M, Tuna E, Gençay K, Simmer JP, Hu JC.
    J Dent Res; 2014 Jul; 93(7 Suppl):94S-100S. PubMed ID: 24621671
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  • 7. Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.
    Parry DA, Brookes SJ, Logan CV, Poulter JA, El-Sayed W, Al-Bahlani S, Al Harasi S, Sayed J, Raïf el M, Shore RC, Dashash M, Barron M, Morgan JE, Carr IM, Taylor GR, Johnson CA, Aldred MJ, Dixon MJ, Wright JT, Kirkham J, Inglehearn CF, Mighell AJ.
    Am J Hum Genet; 2012 Sep 07; 91(3):565-71. PubMed ID: 22901946
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  • 8. WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.
    Katsura KA, Horst JA, Chandra D, Le TQ, Nakano Y, Zhang Y, Horst OV, Zhu L, Le MH, DenBesten PK.
    Matrix Biol; 2014 Sep 07; 38():48-58. PubMed ID: 25008349
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  • 9. Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.
    El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ.
    Am J Hum Genet; 2009 Nov 07; 85(5):699-705. PubMed ID: 19853237
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  • 11. Mutations in RELT cause autosomal recessive amelogenesis imperfecta.
    Kim JW, Zhang H, Seymen F, Koruyucu M, Hu Y, Kang J, Kim YJ, Ikeda A, Kasimoglu Y, Bayram M, Zhang C, Kawasaki K, Bartlett JD, Saunders TL, Simmer JP, Hu JC.
    Clin Genet; 2019 Mar 07; 95(3):375-383. PubMed ID: 30506946
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  • 13. A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.
    Jalloul AH, Rogasevskaia TP, Szerencsei RT, Schnetkamp PP.
    J Biol Chem; 2016 Jun 17; 291(25):13113-23. PubMed ID: 27129268
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  • 16. WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis.
    Zhang H, Koruyucu M, Seymen F, Kasimoglu Y, Kim JW, Tinawi S, Zhang C, Jacquemont ML, Vieira AR, Simmer JP, Hu JCC.
    J Dent Res; 2019 May 17; 98(5):541-548. PubMed ID: 30779877
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  • 18. Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders.
    Lu T, Li M, Xu X, Xiong J, Huang C, Zhang X, Hu A, Peng L, Cai D, Zhang L, Wu B, Xiong F.
    Int J Oral Sci; 2018 Sep 03; 10(3):26. PubMed ID: 30174330
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  • 20. Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.
    Poulter JA, Murillo G, Brookes SJ, Smith CE, Parry DA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ.
    Hum Mol Genet; 2014 Oct 15; 23(20):5317-24. PubMed ID: 24858907
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