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6. Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta. Zhang Z; Zou X; Feng L; Huang Y; Chen F; Sun K; Song Y; Lv P; Gao X; Dong Y; Tian H BMC Oral Health; 2023 Nov; 23(1):893. PubMed ID: 37985977 [TBL] [Abstract][Full Text] [Related]
7. Wang SK; Zhang H; Lin HC; Wang YL; Lin SC; Seymen F; Koruyucu M; Simmer JP; Hu JC Int J Mol Sci; 2024 Jun; 25(11):. PubMed ID: 38892321 [No Abstract] [Full Text] [Related]
8. Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. Kim JW; Simmer JP; Hu YY; Lin BP; Boyd C; Wright JT; Yamada CJ; Rayes SK; Feigal RJ; Hu JC J Dent Res; 2004 May; 83(5):378-83. PubMed ID: 15111628 [TBL] [Abstract][Full Text] [Related]
9. A novel mutation in the AMELX gene and multiple crown resorptions. Lee KE; Lee SK; Jung SE; Song SJ; Cho SH; Lee ZH; Kim JW Eur J Oral Sci; 2011 Dec; 119 Suppl 1():324-8. PubMed ID: 22243263 [TBL] [Abstract][Full Text] [Related]
10. [Alteración del gen AMELX en amelogénesis imperfecta. Una breve revisión]. Tremillo-Maldonado O; Molina-Frechero N; González-González R; Bologna-Molina R Gac Med Mex; 2019; 155(1):101-107. PubMed ID: 30799455 [TBL] [Abstract][Full Text] [Related]
11. A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta. Barron MJ; Brookes SJ; Kirkham J; Shore RC; Hunt C; Mironov A; Kingswell NJ; Maycock J; Shuttleworth CA; Dixon MJ Hum Mol Genet; 2010 Apr; 19(7):1230-47. PubMed ID: 20067920 [TBL] [Abstract][Full Text] [Related]
12. Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6. Hu JC; Chan HC; Simmer SG; Seymen F; Richardson AS; Hu Y; Milkovich RN; Estrella NM; Yildirim M; Bayram M; Chen CF; Simmer JP PLoS One; 2012; 7(12):e52052. PubMed ID: 23251683 [TBL] [Abstract][Full Text] [Related]
13. An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature. Leban T; Trebušak Podkrajšek K; Kovač J; Fidler A; Pavlič A Genes (Basel); 2022 Jul; 13(7):. PubMed ID: 35886055 [TBL] [Abstract][Full Text] [Related]
14. Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1). Aldred MJ; Crawford PJ; Roberts E; Thomas NS Hum Genet; 1992 Dec; 90(4):413-6. PubMed ID: 1483698 [TBL] [Abstract][Full Text] [Related]
15. Alteration of Exon Definition Causes Amelogenesis Imperfecta. Kim YJ; Kang J; Seymen F; Koruyucu M; Zhang H; Kasimoglu Y; Bayram M; Tuna-Ince EB; Bayrak S; Tuloglu N; Hu JC; Simmer JP; Kim JW J Dent Res; 2020 Apr; 99(4):410-418. PubMed ID: 31999931 [TBL] [Abstract][Full Text] [Related]
16. 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; 10(3):26. PubMed ID: 30174330 [TBL] [Abstract][Full Text] [Related]
17. Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. Wright JT; Hart PS; Aldred MJ; Seow K; Crawford PJ; Hong SP; Gibson CW; Hart TC Connect Tissue Res; 2003; 44 Suppl 1():72-8. PubMed ID: 12952177 [TBL] [Abstract][Full Text] [Related]