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Items: 1 to 20 of 123

1.

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.

2.

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.

3.

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.

4.

Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.

Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E.

J Med Genet. 2003 Dec;40(12):900-6.

5.

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. Epub .

6.

Genes and related proteins involved in amelogenesis imperfecta.

Stephanopoulos G, Garefalaki ME, Lyroudia K.

J Dent Res. 2005 Dec;84(12):1117-26. Review.

PMID:
16304440
7.

Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4.

Wright JT, Hart TC, Hart PS, Simmons D, Suggs C, Daley B, Simmer J, Hu J, Bartlett JD, Li Y, Yuan ZA, Seow WK, Gibson CW.

Cells Tissues Organs. 2009;189(1-4):224-9. doi: 10.1159/000151378. Epub 2008 Aug 19.

8.

Mutational analysis of candidate genes in 24 amelogenesis imperfecta families.

Kim JW, Simmer JP, Lin BP, Seymen F, Bartlett JD, Hu JC.

Eur J Oral Sci. 2006 May;114 Suppl 1:3-12; discussion 39-41, 379.

PMID:
16674655
9.

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
10.

Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6.

Hu JC, Chan HC, Simmer SG, Seymen F, Richardson AS, Hu Y, Milkovich RN, Estrella NM, Yildirim M, Bayram M, Chen CF, Simmer JP.

PLoS One. 2012;7(12):e52052. doi: 10.1371/journal.pone.0052052. Epub 2012 Dec 14.

11.

MMP20 active-site mutation in hypomaturation amelogenesis imperfecta.

Ozdemir D, Hart PS, Ryu OH, Choi SJ, Ozdemir-Karatas M, Firatli E, Piesco N, Hart TC.

J Dent Res. 2005 Nov;84(11):1031-5.

12.

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

UrzĂșa 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
13.

Amelogenesis imperfecta.

Crawford PJ, Aldred M, Bloch-Zupan A.

Orphanet J Rare Dis. 2007 Apr 4;2:17. Review.

14.

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. doi: 10.1111/j.2041-1626.2010.00038.x. Epub 2010 Nov 8.

PMID:
25427323
15.

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.

16.

The molecular etiologies and associated phenotypes of amelogenesis imperfecta.

Wright JT.

Am J Med Genet A. 2006 Dec 1;140(23):2547-55. Review.

17.

Amelogenesis imperfecta: genotype-phenotype studies in 71 families.

Wright JT, Torain M, Long K, Seow K, Crawford P, Aldred MJ, Hart PS, Hart TC.

Cells Tissues Organs. 2011;194(2-4):279-83. doi: 10.1159/000324339. Epub 2011 May 19.

18.

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
19.

Phenotype of ENAM mutations is dosage-dependent.

Ozdemir D, Hart PS, Firatli E, Aren G, Ryu OH, Hart TC.

J Dent Res. 2005 Nov;84(11):1036-41.

20.

Novel MMP20 and KLK4 Mutations in Amelogenesis Imperfecta.

Seymen F, Park JC, Lee KE, Lee HK, Lee DS, Koruyucu M, Gencay K, Bayram M, Tuna EB, Lee ZH, Kim YJ, Kim JW.

J Dent Res. 2015 Aug;94(8):1063-9. doi: 10.1177/0022034515590569. Epub 2015 Jun 29.

PMID:
26124219
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