법랑질 형성부전증의 분자유전학적 고찰 = Molecular genetic etiology of amelogenesis imperfecta

참고문헌 (Reference)

1 백병주, "법랑질형성부전증에 대한 증례보고" 27 : 499-504, 2000

2 박종하, "법랑질 형성 부전증에 관한 증례 보고" 25 : 598-603, 1998

3 Ravassipour DB, "Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation" 79 : 1476-1481, 2000

4 Wright JT, "The molecular etiologies and associated phenotypes of amelogenesis imperfecta" 140 : 2547-2555, 2006

5 Nanci A, "Ten Cate’s Oral Histology Development, Structure, and Function. Vol, 6th ed" Mosby 2003

6 Papagerakis P, "Premature stop codon in MMP20 causing amelogenesis imperfecta" 87 : 56-59, 2008

7 Ikawa T, "Porcine amelogenin is expressed from the X and Y chromosomes" 84 : 144-148, 2005

8 Hart TC, "Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects" 40 : 900-906, 2003

9 Hart PS, "Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta" 41 : 545-549, 2004

10 Ozdemir D, "MMP20 active- site mutation in hypomaturation amelogenesis imperfecta" 84 : 1031-1035, 2005

11 Kim JW, "MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta" 42 : 271-275, 2005

12 Hart PS, "Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature" 48 : 589-596, 2003

13 Wright JT, "Human enamel phenotype associated with amelogenesis imperfecta and a kallikrein-4 (g.2142G>A) proteinase mutation" 114Suppl 1) : 13-17, 2006

14 Sundell S, "Hereditary aspects and classification of hereditary amelogenesis imperfecta" 14 : 211-216, 1986

15 Kim JW, "FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis Imperfecta" 82 : 489-494, 2008

16 Hu JC, "Enamel formation and amelogenesis imperfecta" 186 : 78-85, 2007

17 Kim JW, "ENAM mutations in autosomal-dominant amelogenesis imperfecta" 84 : 78-282, 2005

18 Hu JC, "Developmental biology and genetics of dental malformations" 1 : 45-52, 2007

19 Smith CE, "Degradation and loss of matrix proteins from developing enamel" 224 : 292-316, 1989

20 Dong J, "DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism" 133 : 138-141, 2005

21 Wright JT, "DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome" 146 : 343-349, 2008

22 Kida M, "Autosomaldominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon- intron boundary" 81 : 738-742, 2002

23 Kim JW, "Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta" 83 : 378-383, 2004

24 Backman B, "Amelogenesis imperfecta: prevalence and incidence in a northern Swedish county" 14 : 43-47, 1986

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26 Chosack A, "Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta" 47 : 148-156, 1979

27 Mardh CK, "A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2)" 11 : 1069-1074, 2002

28 Mendoza G, "A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3" 120 : 653-662, 2007

29 Price JA, "A common DLX3 gene mutation is responsible for tricho-dentoosseous syndrome in Virginia and North Carolina families" 35 : 825-828, 1998