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Items: 1 to 20 of 135

1.

Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.

Gasse B, Karayigit E, Mathieu E, Jung S, Garret A, Huckert M, Morkmued S, Schneider C, Vidal L, Hemmerlé J, Sire JY, Bloch-Zupan A.

J Dent Res. 2013 Jul;92(7):598-603. doi: 10.1177/0022034513488393. Epub 2013 Apr 26.

PMID:
23625376
2.

Premature stop codon in MMP20 causing amelogenesis imperfecta.

Papagerakis P, Lin HK, Lee KY, Hu Y, Simmer JP, Bartlett JD, Hu JC.

J Dent Res. 2008 Jan;87(1):56-9.

3.

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.

4.

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;194(1):60-6. doi: 10.1159/000322036. Epub 2010 Dec 29.

5.

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
6.

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.

7.

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
8.

Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta.

Kim JW, Simmer JP, Hu YY, Lin BP, Boyd C, Wright JT, Yamada CJ, Rayes SK, Feigal RJ, Hu JC.

J Dent Res. 2004 May;83(5):378-83.

PMID:
15111628
9.

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 .

10.

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. doi: 10.1016/j.ajhg.2009.09.014. Epub 2009 Oct 22.

11.

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.

12.
13.

FAM20A mutations associated with enamel renal syndrome.

Wang SK, Reid BM, Dugan SL, Roggenbuck JA, Read L, Aref P, Taheri AP, Yeganeh MZ, Simmer JP, Hu JC.

J Dent Res. 2014 Jan;93(1):42-8. doi: 10.1177/0022034513512653. Epub 2013 Nov 6.

14.

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.

15.

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.

16.

Scanning electron microscopy and calcification in amelogenesis imperfecta in anterior and posterior human teeth.

Sánchez-Quevedo MC, Ceballos G, García JM, Rodríguez IA, Gómez de Ferraris ME, Campos A.

Histol Histopathol. 2001 Jul;16(3):827-32.

PMID:
11510973
17.

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
18.

Enamel ultrastructure in pigmented hypomaturation amelogenesis imperfecta.

Wright JT, Lord V, Robinson C, Shore R.

J Oral Pathol Med. 1992 Oct;21(9):390-4.

PMID:
1432732
19.

Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.

Luder HU, Gerth-Kahlert C, Ostertag-Benzinger S, Schorderet DF.

PLoS One. 2013 Oct 23;8(10):e78529. doi: 10.1371/journal.pone.0078529. eCollection 2013.

20.

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
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