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Items: 1 to 20 of 103

1.

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.

2.

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
3.

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
4.

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.

5.

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.

6.

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.

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

PMID:
21118793
8.

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
9.

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.

10.

Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta.

Becerik S, Cogulu D, Emingil G, Han T, Hart PS, Hart TC.

Am J Med Genet A. 2009 Jul;149A(7):1392-8. doi: 10.1002/ajmg.a.32885.

11.

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.

12.

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.

13.

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. doi: 10.1177/0022034513502054. Epub 2013 Aug 19.

14.

Exclusion of candidate genes in two families with autosomal dominant hypocalcified amelogenesis imperfecta.

Hart PS, Wright JT, Savage M, Kang G, Bensen JT, Gorry MC, Hart TC.

Eur J Oral Sci. 2003 Aug;111(4):326-31.

PMID:
12887398
15.

A mutation in the enamelin gene in a mouse model.

Seedorf H, Klaften M, Eke F, Fuchs H, Seedorf U, Hrabe de Angelis M.

J Dent Res. 2007 Aug;86(8):764-8.

PMID:
17652207
16.

A multidisciplinary approach for the diagnosis of hypocalcified amelogenesis imperfecta in two Chilean families.

Urzúa B, Ortega-Pinto A, Farias DA, Franco E, Morales-Bozo I, Moncada G, Escobar-Pezoa N, Scholz U, Cifuentes V.

Acta Odontol Scand. 2012 Jan;70(1):7-14. doi: 10.3109/00016357.2011.574973. Epub 2011 Apr 19.

PMID:
21504268
17.

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. doi: 10.1016/j.archoralbio.2015.06.016. Epub 2015 Jun 23.

PMID:
26142250
18.

Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary.

Kida M, Ariga T, Shirakawa T, Oguchi H, Sakiyama Y.

J Dent Res. 2002 Nov;81(11):738-42.

PMID:
12407086
19.

A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).

Mårdh CK, Bäckman B, Holmgren G, Hu JC, Simmer JP, Forsman-Semb K.

Hum Mol Genet. 2002 May 1;11(9):1069-74.

20.

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.

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