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2. 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; 21(6):407-12. PubMed ID: 21702852 [TBL] [Abstract][Full Text] [Related]
3. A novel FAM83H mutation in one Chinese family with autosomal-dominant hypocalcification amelogenesis imperfecta. Yu S; Quan J; Wang X; Sun X; Zhang X; Liu Y; Zhang C; Zheng S Mutagenesis; 2018 Oct; 33(4):333-340. PubMed ID: 30247735 [TBL] [Abstract][Full Text] [Related]
4. Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation. El-Sayed W; Shore RC; Parry DA; Inglehearn CF; Mighell AJ Cells Tissues Organs; 2010; 191(3):235-9. PubMed ID: 20160442 [TBL] [Abstract][Full Text] [Related]
6. FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. Kim JW; Lee SK; Lee ZH; Park JC; Lee KE; Lee MH; Park JT; Seo BM; Hu JC; Simmer JP Am J Hum Genet; 2008 Feb; 82(2):489-94. PubMed ID: 18252228 [TBL] [Abstract][Full Text] [Related]
7. FAM83H mutations cause ADHCAI and alter intracellular protein localization. Lee SK; Lee KE; Jeong TS; Hwang YH; Kim S; Hu JC; Simmer JP; Kim JW J Dent Res; 2011 Mar; 90(3):377-81. PubMed ID: 21118793 [TBL] [Abstract][Full Text] [Related]
8. Wang SK; Zhang H; Hu CY; Liu JF; Chadha S; Kim JW; Simmer JP; Hu JCC J Dent Res; 2021 Mar; 100(3):293-301. PubMed ID: 33034243 [TBL] [Abstract][Full Text] [Related]
9. The gain-of-function FAM83H mutation caused hypocalcification amelogenesis imperfecta in a Chinese family. Zheng Y; Lu T; Chen J; Li M; Xiong J; He F; Gan Z; Guo Y; Zhang L; Xiong F Clin Oral Investig; 2021 May; 25(5):2915-2923. PubMed ID: 33009625 [TBL] [Abstract][Full Text] [Related]
10. Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta. Hyun HK; Lee SK; Lee KE; Kang HY; Kim EJ; Choung PH; Kim JW Int Endod J; 2009 Nov; 42(11):1039-43. PubMed ID: 19825039 [TBL] [Abstract][Full Text] [Related]
11. The Enamel Phenotype in Homozygous Fam83h Truncation Mice. Wang SK; Hu Y; Smith CE; Yang J; Zeng C; Kim JW; Hu JC; Simmer JP Mol Genet Genomic Med; 2019 Jun; 7(6):e724. PubMed ID: 31060110 [TBL] [Abstract][Full Text] [Related]
12. Fam83h is associated with intracellular vesicles and ADHCAI. Ding Y; Estrella MR; Hu YY; Chan HL; Zhang HD; Kim JW; Simmer JP; Hu JC J Dent Res; 2009 Nov; 88(11):991-6. PubMed ID: 19828885 [TBL] [Abstract][Full Text] [Related]
13. Novel FAM83H mutations in patients with amelogenesis imperfecta. Xin W; Wenjun W; Man Q; Yuming Z Sci Rep; 2017 Jul; 7(1):6075. PubMed ID: 28729668 [TBL] [Abstract][Full Text] [Related]
14. Effects of Fam83h truncation mutation on enamel developmental defects in male C57/BL6J mice. Zheng X; Huang W; He Z; Li Y; Li S; Song Y Bone; 2023 Jan; 166():116595. PubMed ID: 36272714 [TBL] [Abstract][Full Text] [Related]
16. Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel. Urzúa B; Martínez C; Ortega-Pinto A; Adorno D; Morales-Bozo I; Riadi G; Jara L; Plaza A; Lefimil C; Lozano C; Reyes M Arch Oral Biol; 2015 Sep; 60(9):1356-67. PubMed ID: 26142250 [TBL] [Abstract][Full Text] [Related]
17. Tooth ultrastructure changes induced by a nonsense mutation in the FAM83H gene: insights into the diversity of amelogenesis imperfecta. Tan L; Guo Y; Zhong MM; Zhao YQ; Zhao J; Aimee DM; Feng Y; Ye Q; Hu J; Ou-Yang ZY; Chen NX; Su XL; Zhang Q; Liu Q; Yuan H; Wang MY; Feng YZ; Zhang FY Clin Oral Investig; 2023 Oct; 27(10):6111-6123. PubMed ID: 37615776 [TBL] [Abstract][Full Text] [Related]
18. Amelogenesis imperfecta: A novel FAM83H mutation and characteristics of periodontal ligament cells. Nowwarote N; Theerapanon T; Osathanon T; Pavasant P; Porntaveetus T; Shotelersuk V Oral Dis; 2018 Nov; 24(8):1522-1531. PubMed ID: 29949226 [TBL] [Abstract][Full Text] [Related]
19. A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance. Bai RQ; He WB; Peng Q; Shen SH; Yu QQ; Du J; Tan YQ; Wang YH; Liu BJ Mol Genet Genomic Med; 2022 Apr; 10(4):e1902. PubMed ID: 35212465 [TBL] [Abstract][Full Text] [Related]
20. Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification. Lee SK; Hu JC; Bartlett JD; Lee KE; Lin BP; Simmer JP; Kim JW Hum Mutat; 2008 Aug; 29(8):E95-9. PubMed ID: 18484629 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]