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Items: 1 to 20 of 89

1.

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. doi: 10.1177/0022034510389177. Epub 2010 Nov 30.

PMID:
21118793
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. doi: 10.1111/j.1365-263X.2011.01142.x. Epub 2011 Jun 27.

PMID:
21702852
3.

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. doi: 10.1177/0022034509349454.

4.

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. doi: 10.1111/j.1365-2591.2009.01617.x.

PMID:
19825039
5.

Phenotypic variation in FAM83H-associated amelogenesis imperfecta.

Wright JT, Frazier-Bowers S, Simmons D, Alexander K, Crawford P, Han ST, Hart PS, Hart TC.

J Dent Res. 2009 Apr;88(4):356-60. doi: 10.1177/0022034509333822.

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. doi: 10.1016/j.ajhg.2007.09.020.

7.

Target gene analyses of 39 amelogenesis imperfecta kindreds.

Chan HC, Estrella NM, Milkovich RN, Kim JW, Simmer JP, Hu JC.

Eur J Oral Sci. 2011 Dec;119 Suppl 1:311-23. doi: 10.1111/j.1600-0722.2011.00857.x.

8.

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. doi: 10.1002/humu.20789.

9.

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. doi: 10.1159/000252801. Epub 2009 Oct 22.

10.

Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature.

Zhang C, Song Y, Bian Z.

Oral Surg Oral Med Oral Pathol Oral Radiol. 2015 Feb;119(2):e69-76. doi: 10.1016/j.oooo.2014.09.002. Epub 2014 Sep 28. Review.

PMID:
25487982
11.

Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations.

Hart PS, Aldred MJ, Crawford PJ, Wright NJ, Hart TC, Wright JT.

Arch Oral Biol. 2002 Apr;47(4):261-5.

PMID:
11922869
12.

Molecular characterization of amelogenesis imperfecta in Chinese patients.

Song YL, Wang CN, Zhang CZ, Yang K, Bian Z.

Cells Tissues Organs. 2012;196(3):271-9. doi: 10.1159/000334210. Epub 2012 Mar 13.

PMID:
22414746
13.

Fam83h null mice support a neomorphic mechanism for human ADHCAI.

Wang SK, Hu Y, Yang J, Smith CE, Richardson AS, Yamakoshi Y, Lee YL, Seymen F, Koruyucu M, Gencay K, Lee M, Choi M, Kim JW, Hu JC, Simmer JP.

Mol Genet Genomic Med. 2015 Sep 21;4(1):46-67. doi: 10.1002/mgg3.178. eCollection 2016 Jan.

14.

Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta.

Hart PS, Becerik S, Cogulu D, Emingil G, Ozdemir-Ozenen D, Han ST, Sulima PP, Firatli E, Hart TC.

Clin Genet. 2009 Apr;75(4):401-4. doi: 10.1111/j.1399-0004.2008.01112.x. Epub 2009 Feb 11. No abstract available.

15.

Novel WDR72 mutation and cytoplasmic localization.

Lee SK, Seymen F, Lee KE, Kang HY, Yildirim M, Tuna EB, Gencay K, Hwang YH, Nam KH, De La Garza RJ, Hu JC, Simmer JP, Kim JW.

J Dent Res. 2010 Dec;89(12):1378-82. doi: 10.1177/0022034510382117. Epub 2010 Oct 11.

16.

Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG.

Pavlic A, Petelin M, Battelino T.

Arch Oral Biol. 2007 Mar;52(3):209-17. Epub 2006 Nov 27.

PMID:
17125728
17.

MMP20 hemopexin domain mutation in amelogenesis imperfecta.

Lee SK, Seymen F, Kang HY, Lee KE, Gencay K, Tuna B, Kim JW.

J Dent Res. 2010 Jan;89(1):46-50. doi: 10.1177/0022034509352844.

18.

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. doi: 10.1177/0022034513475626. Epub 2013 Jan 25.

19.

ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.

Wang SK, Choi M, Richardson AS, Reid BM, Lin BP, Wang SJ, Kim JW, Simmer JP, Hu JC.

Hum Mol Genet. 2014 Apr 15;23(8):2157-63. doi: 10.1093/hmg/ddt611. Epub 2013 Dec 4.

20.

Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.

Cho SH, Seymen F, Lee KE, Lee SK, Kweon YS, Kim KJ, Jung SE, Song SJ, Yildirim M, Bayram M, Tuna EB, Gencay K, Kim JW.

Hum Mutat. 2012 Jan;33(1):91-4. doi: 10.1002/humu.21621. Epub 2011 Oct 31.

PMID:
21990045

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