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Items: 1 to 20 of 131

1.

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.

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.

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.

4.

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
5.

Missense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta.

Pourhashemi SJ, Ghandehari Motlagh M, Meighani G, Ebrahimi Takaloo A, Mansouri M, Mohandes F, Mirzaii M, Khoshzaban A, Moshtaghi F, Abedkhojasteh H, Heidari M.

Iran J Public Health. 2014 Dec;43(12):1680-7.

6.

Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.

Wang X, Zhao Y, Yang Y, Qin M.

PLoS One. 2015 Mar 13;10(3):e0116514. doi: 10.1371/journal.pone.0116514. eCollection 2015.

7.

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.

8.

The molecular etiologies and associated phenotypes of amelogenesis imperfecta.

Wright JT.

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

9.

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.

10.

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.

11.

Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI).

Masuya H, Shimizu K, Sezutsu H, Sakuraba Y, Nagano J, Shimizu A, Fujimoto N, Kawai A, Miura I, Kaneda H, Kobayashi K, Ishijima J, Maeda T, Gondo Y, Noda T, Wakana S, Shiroishi T.

Hum Mol Genet. 2005 Mar 1;14(5):575-83. Epub 2005 Jan 13.

PMID:
15649948
12.

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
13.

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.

14.

Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry.

Urzúa B, Ortega-Pinto A, Morales-Bozo I, Rojas-Alcayaga G, Cifuentes V.

Biochem Genet. 2011 Feb;49(1-2):104-21. doi: 10.1007/s10528-010-9392-6. Epub 2010 Dec 3. Review.

PMID:
21127961
15.

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.

16.

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.

17.

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.

18.

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
19.

Relationship of phenotype and genotype in X-linked amelogenesis imperfecta.

Wright JT, Hart PS, Aldred MJ, Seow K, Crawford PJ, Hong SP, Gibson CW, Hart TC.

Connect Tissue Res. 2003;44 Suppl 1:72-8. Review.

PMID:
12952177
20.

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

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