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Journal Abstract Search

257 related items for PubMed ID: 27843125

  • 1. Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.
    Seymen F, Kim YJ, Lee YJ, Kang J, Kim TH, Choi H, Koruyucu M, Kasimoglu Y, Tuna EB, Gencay K, Shin TJ, Hyun HK, Kim YJ, Lee SH, Lee ZH, Zhang H, Hu JC, Simmer JP, Cho ES, Kim JW.
    Am J Hum Genet; 2016 Nov 03; 99(5):1199-1205. PubMed ID: 27843125
    [Abstract] [Full Text] [Related]

  • 2. Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta.
    Smith CE, Whitehouse LL, Poulter JA, Brookes SJ, Day PF, Soldani F, Kirkham J, Inglehearn CF, Mighell AJ.
    Eur J Hum Genet; 2017 Aug 03; 25(8):1015-1019. PubMed ID: 28513613
    [Abstract] [Full Text] [Related]

  • 3. Recessive Mutations in ACP4 Cause Amelogenesis Imperfecta.
    Kim YJ, Lee Y, Kasimoglu Y, Seymen F, Simmer JP, Hu JC, Cho ES, Kim JW.
    J Dent Res; 2022 Jan 03; 101(1):37-45. PubMed ID: 34036831
    [Abstract] [Full Text] [Related]

  • 4. Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.
    Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E.
    J Med Genet; 2003 Dec 03; 40(12):900-6. PubMed ID: 14684688
    [Abstract] [Full Text] [Related]

  • 5. ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.
    Wang SK, Choi M, Richardson AS, Reid BM, Lin BP, Wang SJ, Kim JW, Simmer JP, Hu JC.
    Hum Mol Genet; 2014 Apr 15; 23(8):2157-63. PubMed ID: 24305999
    [Abstract] [Full Text] [Related]

  • 6. Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.
    Volodarsky M, Zilberman U, Birk OS.
    Arch Oral Biol; 2015 Jun 15; 60(6):919-22. PubMed ID: 25827751
    [Abstract] [Full Text] [Related]

  • 7. Enamelin/ameloblastin gene polymorphisms in autosomal amelogenesis imperfecta among Syrian families.
    Dashash M, Bazrafshani MR, Poulton K, Jaber S, Naeem E, Blinkhorn AS.
    J Investig Clin Dent; 2011 Feb 15; 2(1):16-22. PubMed ID: 25427323
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 95(3):375-383. PubMed ID: 30506946
    [Abstract] [Full Text] [Related]

  • 9. Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta.
    Santos MC, Hart PS, Ramaswami M, Kanno CM, Hart TC, Line SR.
    Head Face Med; 2007 Jan 31; 3():8. PubMed ID: 17266769
    [Abstract] [Full Text] [Related]

  • 10. Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta.
    Kim YJ, Seymen F, Kang J, Koruyucu M, Tuloglu N, Bayrak S, Tuna EB, Lee ZH, Shin TJ, Hyun HK, Kim YJ, Lee SH, Hu J, Simmer J, Kim JW.
    Clin Oral Investig; 2019 Mar 31; 23(3):1481-1487. PubMed ID: 30120606
    [Abstract] [Full Text] [Related]

  • 11. Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.
    Cho SH, Seymen F, Lee KE, Lee SK, Kweon YS, Kim KJ, Jung SE, Song SJ, Yildirim M, Bayram M, Tuna EB, Gencay K, Kim JW.
    Hum Mutat; 2012 Jan 31; 33(1):91-4. PubMed ID: 21990045
    [Abstract] [Full Text] [Related]

  • 12. 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 31; 85(5):699-705. PubMed ID: 19853237
    [Abstract] [Full Text] [Related]

  • 13. A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.
    Smith CEL, Whitehouse LLE, Poulter JA, Wilkinson Hewitt L, Nadat F, Jackson BR, Manfield IW, Edwards TA, Rodd HD, Inglehearn CF, Mighell AJ.
    Hum Mol Genet; 2020 Jun 03; 29(9):1417-1425. PubMed ID: 32167558
    [Abstract] [Full Text] [Related]

  • 14. Phenotype of ENAM mutations is dosage-dependent.
    Ozdemir D, Hart PS, Firatli E, Aren G, Ryu OH, Hart TC.
    J Dent Res; 2005 Nov 03; 84(11):1036-41. PubMed ID: 16246937
    [Abstract] [Full Text] [Related]

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  • 16. Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.
    Nitayavardhana I, Theerapanon T, Srichomthong C, Piwluang S, Wichadakul D, Porntaveetus T, Shotelersuk V.
    Mol Genet Genomics; 2020 Jul 03; 295(4):923-931. PubMed ID: 32246227
    [Abstract] [Full Text] [Related]

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  • 18. ENAM mutations in autosomal-dominant amelogenesis imperfecta.
    Kim JW, Seymen F, Lin BP, Kiziltan B, Gencay K, Simmer JP, Hu JC.
    J Dent Res; 2005 Mar 03; 84(3):278-82. PubMed ID: 15723871
    [Abstract] [Full Text] [Related]

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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
    [Abstract] [Full Text] [Related]

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