| 1 | AIH1, AMELX
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| A novel AMELX mutation causes hypoplastic amelogenesis imperfecta.
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| Kim YJ, Kim YJ, Kang J, Shin TJ, Hyun HK, Lee SH, Lee ZH, Kim JW.
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| Arch Oral Biol. Apr;76:61-65. doi: 10.1016/j.archoralbio.2017.01.004. Epub 2017 Jan 12. 2017
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| 2 | AIH1, AMELX, ENAM
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| Alteration of conserved alternative splicing in AMELX causes enamel defects
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| Cho ES, Kim KJ, Lee KE, Lee EJ, Yun CY, Lee MJ, Shin TJ, Hyun HK, Kim YJ, Lee SH, Jung HS, Lee ZH, Kim JW.
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| J Dent Res. Oct;93(10):980-7. doi: 10.1177/0022034514547272. Epub 2014 Aug 12. 2014
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| 3 | AIH1, AMELX, MLS
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| A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI).
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| Hobson GM, Gibson CW, Aragon M, Yuan ZA, Davis-Williams A, Banser L, Kirkham J, Brook AH.
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| Am J Med Genet A 149A(8):1698-1705. [Epub ahead of print]
2009
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| 4 | AIH1, AIH2, AIPH1, AIPH2, AMELX, ENAM, KLK4, MMP20
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| Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4.
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| Wright JT, Hart TC, Hart PS, Simmons D, Suggs C, Daley B, Simmer J, Hu J, Bartlett JD, Li Y, Yuan ZA, Seow WK, Gibson CW.
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| Cells Tissues Organs 189(1-4):224-9. Epub 2008 Aug 19. 2009
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| 5 | AI1C, AIH1, AIH2, AIH3, AIHHT, AIPH1, AIPH2, AMELX, AXIN1, DD2, DGI1, DLX3, DSPP, ENAM, FTA1, FTACC, KLK4, MMP20, MSX1, OLD, PAX9, STHAG5, ZNF22
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| The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders.
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| Bailleul-Forestier I, Molla M, Verloes A, Berdal A.
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| Eur J Med Genet 51(4):273-91. Epub 2008 Mar 26. Review.
2008
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| 6 | AMELX, AIH1
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| Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta.
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| Kim JW, Simmer JP, Hu YY, Lin BP, Boyd C, Wright JT, Yamada CJ, Rayes SK, Feigal RJ, Hu JC.
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| J Dent Res 83(5):378-83. 2004
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| 7 | AMELX, AIH1
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| Amelogenin signal peptide mutation : correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta.
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| Lagerstrm-Fermr M, et al.
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| Genomics 26 : 159-162. 1995
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| 8 | AMELX, AIH1
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| Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1).
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| Lench NJ, et al.
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| Hum Mutat 5 : 251-259. 1995
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| 9 | AMELX, AIH1
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| SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1).
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| Lench NJ, et al.
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| Hum Mol Genet 3 : 827-828. 1994
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| 10 | AMELX, AIH1
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| Molecular basis and consequences of a deletion in the amelogenin gene, analyzed by capture PCR.
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| Lagerstrm-Fermr M, et al.
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| Genomics 17 : 89-92. 1993
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| 11 | AIH1, AIH3
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| Genetic heterogeneity in X-linked amelogenesis imperfecta.
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| Aldred MJ, et al.
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| Genomics 14 : 567-573. 1992
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| 12 | AMELX, AIH1
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| Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1).
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| Aldred MJ, et al.
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| Hum Genet 90 : 413-416. 1992
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| 13 | AIH1, AMELX
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| A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1).
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| Lagerstrm M, et al.
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| Genomics 10 : 971-975. 1991
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| 14 | AIH1
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| Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis.
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| Lagerstrm M, et al.
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| Am J Hum Genet 46 : 120-125. 1990
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| 15 | AIH1, AMELX, AMELY
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| Human and mouse amelogenin gene loci are on the sex chromosomes.
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| Lau EC, Mohandas TK, Shapiro LJ, Slavkin HC, Snead ML.
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| Genomics 4 : 162-168. 1989
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| 16 | AIH1
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| Amelogenesis imperfecta : a genetic study.
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| Backman B, et al.
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| Hum Hered 38 : 189-206. 1988
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| 17 | AIH1
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| Electron optic microanalysis of two gene products in enamel of females heterozygous for X-linked hypomaturation amelogenesis imperfecta.
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| Sauk JJ, et al.
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| Am J Hum Genet 24 : 267-276. 1972
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