These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. 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 [Abstract] [Full Text] [Related]
3. Exonal deletion of SLC24A4 causes hypomaturation amelogenesis imperfecta. Seymen F, Lee KE, Tran Le CG, Yildirim M, Gencay K, Lee ZH, Kim JW. J Dent Res; 2014 Apr; 93(4):366-70. PubMed ID: 24532815 [Abstract] [Full Text] [Related]
7. Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta. Smith CEL, Poulter JA, Brookes SJ, Murillo G, Silva S, Brown CJ, Patel A, Hussain H, Kirkham J, Inglehearn CF, Mighell AJ. J Dent Res; 2019 Jun; 98(6):698-704. PubMed ID: 30905256 [Abstract] [Full Text] [Related]
8. 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; 85(5):699-705. PubMed ID: 19853237 [Abstract] [Full Text] [Related]
14. A novel mutation in GPR68 causes hypomaturation amelogenesis imperfecta. Yu S, Liu D, Yan C, Yuan C, Zhang C, Zheng S. Arch Oral Biol; 2024 Aug 03; 164():105991. PubMed ID: 38761453 [Abstract] [Full Text] [Related]
15. Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation. Haubek D, Gjørup H, Jensen LG, Juncker I, Nyegaard M, Børglum AD, Poulsen S, Hertz JM. Int J Paediatr Dent; 2011 Nov 03; 21(6):407-12. PubMed ID: 21702852 [Abstract] [Full Text] [Related]
16. 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]
17. 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]
19. Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth. El-Sayed W, Shore RC, Parry DA, Inglehearn CF, Mighell AJ. Cells Tissues Organs; 2011 Oct 15; 194(1):60-6. PubMed ID: 21196691 [Abstract] [Full Text] [Related]
20. ENAM mutations with incomplete penetrance. Seymen F, Lee KE, Koruyucu M, Gencay K, Bayram M, Tuna EB, Lee ZH, Kim JW. J Dent Res; 2014 Oct 15; 93(10):988-92. PubMed ID: 25143514 [Abstract] [Full Text] [Related] Page: [Next] [New Search]