287 related articles for article (PubMed ID: 30174330)
1. 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]
2. AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout-NLS-lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue-specificity.
Liang T; Hu Y; Smith CE; Richardson AS; Zhang H; Yang J; Lin B; Wang SK; Kim JW; Chun YH; Simmer JP; Hu JC
Mol Genet Genomic Med; 2019 Sep; 7(9):e929. PubMed ID: 31402633
[TBL] [Abstract][Full Text] [Related]
3. 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; 23(20):5317-24. PubMed ID: 24858907
[TBL] [Abstract][Full Text] [Related]
4. ENAM mutations and digenic inheritance.
Zhang H; Hu Y; Seymen F; Koruyucu M; Kasimoglu Y; Wang SK; Wright JT; Havel MW; Zhang C; Kim JW; Simmer JP; Hu JC
Mol Genet Genomic Med; 2019 Oct; 7(10):e00928. PubMed ID: 31478359
[TBL] [Abstract][Full Text] [Related]
5. Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes.
Hany U; Watson CM; Liu L; Nikolopoulos G; Smith CEL; Poulter JA; Brown CJ; Patel A; Rodd HD; Balmer R; Harfoush A; Al-Jawad M; Inglehearn CF; Mighell AJ
J Dent Res; 2024 Jan; 103(1):22-30. PubMed ID: 38058155
[TBL] [Abstract][Full Text] [Related]
6. 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; 2(1):16-22. PubMed ID: 25427323
[TBL] [Abstract][Full Text] [Related]
7. 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; 29(9):1417-1425. PubMed ID: 32167558
[TBL] [Abstract][Full Text] [Related]
8. A Novel De Novo
Kim YJ; Lee Y; Zhang H; Song JS; Hu JC; Simmer JP; Kim JW
Genes (Basel); 2021 Feb; 12(3):. PubMed ID: 33652941
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.
Khan SA; Khan MA; Muhammad N; Bashir H; Khan N; Muhammad N; Yilmaz R; Khan S; Wasif N
BMC Med Genet; 2020 May; 21(1):97. PubMed ID: 32380970
[TBL] [Abstract][Full Text] [Related]
11. LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.
Kim JW; Seymen F; Lee KE; Ko J; Yildirim M; Tuna EB; Gencay K; Shin TJ; Kyun HK; Simmer JP; Hu JC
J Dent Res; 2013 Oct; 92(10):899-904. PubMed ID: 23958762
[TBL] [Abstract][Full Text] [Related]
12. 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; 14(5):575-83. PubMed ID: 15649948
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21.
MacDougall M; DuPont BR; Simmons D; Reus B; Krebsbach P; Kärrman C; Holmgren G; Leach RJ; Forsman K
Genomics; 1997 Apr; 41(1):115-8. PubMed ID: 9126491
[TBL] [Abstract][Full Text] [Related]
15. 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; 3():8. PubMed ID: 17266769
[TBL] [Abstract][Full Text] [Related]
16. Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing.
Wang SK; Hu Y; Simmer JP; Seymen F; Estrella NM; Pal S; Reid BM; Yildirim M; Bayram M; Bartlett JD; Hu JC
J Dent Res; 2013 Mar; 92(3):266-71. PubMed ID: 23355523
[TBL] [Abstract][Full Text] [Related]
17. Enamelin and autosomal-dominant amelogenesis imperfecta.
Hu JC; Yamakoshi Y
Crit Rev Oral Biol Med; 2003; 14(6):387-98. PubMed ID: 14656895
[TBL] [Abstract][Full Text] [Related]
18. Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients.
Mårdh CK; Bäckman B; Simmons D; Golovleva I; Gu TT; Holmgren G; MacDougall M; Forsman-Semb K
Eur J Oral Sci; 2001 Feb; 109(1):8-13. PubMed ID: 11330937
[TBL] [Abstract][Full Text] [Related]
19. 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; 95(3):375-383. PubMed ID: 30506946
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]