1. Backman B. Amelogenesis imperfecta-clinical manifestations in 51 families in a northern Swedish country. Scandanavian Journal Dental Research 1988;96:505-516.

2. Witkop CJ. Hereditary defects in enamel and dentin. Acta Genet 1957;7:236-239.

3. Chosack A, Eidelman E, Wisotski I, Cohen T. Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta. Oral Surgery 1979;47:148-156.

4. Sundell S. Hereditary amelogenesis impertecta. an epidemiological, genetic and clinical study in a swedish child population. Swed Dent J (Suppl) 1986;31:1-38.

5. Witkop CJ, Sauk JJ. Heritable Defects of Enamel. In: Stewart R, Prescott G, eds. Oral Facial Genetics. St. Louis: C.V. Mosby Company, 1976;151-226.

6. Witkop CJJ. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited, problems in classification. J Oral Pathol 1989;17:547-553.

7. Hart PS, Hart TC, Simmer JP, Wright JT. Establishment of a nomenclature for X-linked amelogenesis imperfecta. Archs Oral Biol 2002;47:255-260.

8. Wright J. The diagnosis and treatment of dentinogenesis imperfecta and amelogenesis imperfecta. Hellenic Dent J 1993;2:17-24.

9. Backman B, Holm A. Amelogenesis Imperfecta: prevalence and incidence in a Northern Swedish County. Community Dent Oral Epidemiol 1986; 14:43-47.

10. Backman B, Holmgren G. Amelogenesis imperfecta: a genetic study. Human Heredity 1988;38:189-206.

11. Mardh K, Backman B, Holgren G, Hu J-C, Simmer J, Forsman-Semb K. A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). Human Mol Genet 2002;11:1069-1074.

12. Kida M, Ariga T, Shirakawa T, Oguchi H, Sakiyama Y. Autsomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary. J Dent Res 2002;81:738-742.

13. Rajpar MH, Harley K, Laing C, Davies DM, Dixon MJ. Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. Human Mol Genet 2001;10:1673-1677.

14. Witkop CJJ. Partial expression of sex-linked amelogenesis imperfecta in females compatible with the Lyon hypothesis. Oral Surgery, Oral Medicine, Oral Pathology 1967;23:174-182.

15. Ravassipour DB, Hart S, Hart TC, Ritter AV, Yamauchi RM, Gibson C, Wright JT. Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation. J Dent Res 2000;79:1476-1481.

16. Persson M, Sundell S. Facial morphology and open bite deformity in amelogenesis imperfecta. Acta Odontol Scand 1982;40:135-144.

17. Rowley R, Hill FJ, Winter GB. An investigation of the association between anterior open-bite and amelogenesis imperfecta. Am J Orthodont 1982;81:229-235.

18. Cartwright AR, Kula K, Wright JT. Craniofacial features associated with amelogenesis imperfecta. J Craniofac Genet Dev Biol 1999;19:148-156.

19. Backman B, Adolfsson U. Craniofacial structure related to inheritance pattern in amelogenesis imperfecta. Am J Othod Dentofac Orthop 1994;105:575-582.

20. Wright JT, Waite P, Mueninghoff L, Sarver DM. The multidisciplinary approach managing enamel defects. JADA 1991;122:62-65.

21. Hoppenreijs TJM, Voorsmit RACA, Freihofer HPM. Open bite deformity in amelogenesis imperfecta Part 1: an analysis of contributory factors and implications for treatment. J Cranio-Maxillo Surg 1998;26:260-266.

22. Simmer JP, Fincham AG. Molecular mechanisms of dental enamel formation. Crit Rev Oral Biol Med 1995;6:84-108.

23. Robinson C, Kirkham J, Briggs HD, Atkinson PJ. Enamel proteins from secretion to maturation. J Dent Res 1982;61:1490-1495.

24. Fincham AG, Simmer JP. Amelogenin proteins of developing dental enamel. Dental Enamel. Chichester: John Wiley & Sons, 1997;118-134.

25. Smith C, Issid M, Margoli H, Moreno E. Developmental changes in the pH of enamel fluid and its effects on matrix-resident proteinases. Adv Dent Res 1996;10:159-169.

26. Lau EC, Mohandras TK, Shapiro LJ, Slavkin HC, Snead ML. Human and mouse amelogenin gene loci are on the sex chromosomes. Genomics 1989;4:162-168.

27. Gibson CW, Golub EE, Abrams WR, Shen G, Ding W, Rosenbloom J. Bovine amelogenin message heterogeneity: Alternative splicing and Y-chromosomal gene transcription. Am Chem Soc 1992;31:8384-8388.

28. Gibson CW, Yuan ZA, Hall B, Longenecker G, Chen E, Thyagarajan T, Sreenath T, Wright JT, Decker S, Piddington R, Harrison G, Kulkarni AB. Amelogenin-deficient mice display an amelogenesis imperfecta phenotype. J Biol Chem 2001;276:31871-31875.

29. Krebasbach PH, Lee SK, Matsuki Y, Kozak CA, Yamada KM, Yamada Y. Full-length sequence, localization, and chromosomal mapping of ameloblastin. J Biol Chem 1996;271:4431-4435.

30. Hu C, Hart T, Dupont B, Chen J, Jiang H, Sun X, Qian Q, Zhang C, Wright T, Simmer J. Cloning human enamlelin cDNA, chromosomal localization and analysis of expression during tooth development. J Dent Res 2000;79:912-919.

31. Hu J, Zhang C, Yang Y, Karrman-Mardh C, Forsman-Semb K, Simmer J. Cloning and characterization of the mouse and human enamelin genes. J Dent Res 2001;80:898-902.

32. Bartlett J, Simmer J, Xue J, Margolis H, Moreno E. Molecular cloning and mRNA tissue distribution of a novel matrix metalloproteinase isolated from porcine enamel organ. Gene 1996;183:123-128.

33. Llano E, Pendas AM, Knauper V, Sorsa T, Salo T, Salido E, Murphy G, Simmer JP, Bartlett JD, Lopez-Otin C. Identification and structural and functional characterization of human enamelysin (MMP-20). Biochem 1997;36:15101-15108.

34. Scully JL, Bartlett JD, Chaparian MG, Fukae M, Uchida T, Xue J, Hu C-C, Simmer JP. Enamel matrix serine proteinase 1: stage specific expression and molecular modeling. Conn Tis Res 1998;39:415-426.

35. Deutsch D, Palmon A, Dafni L, Catalano -S, J., Young MF, Fisher LW. The enamelin (tuftelin) gene. Int J Develop Biol 1995;39:135-143.

36. Lagerstrom M, Dahl N, Iselius L, Backman B, Pettersson U. Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis. Am J Human Genet 1990;46:120-125.

37. Lagerstrom M, Dahl N, Nakahori Y, Nakagome Y, Backman B, Landegren U, Pettersson U. A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Genomics 1991;10(4):971-975.

38. Wright J, Hart P, Aldred M, Crawford P, Gibson C, Hart T. Phenotype variability associated with AMELX mutations affecting specific domains of the amelogenin protein. Connect Tissue Res 2002 (In Press).

39. Sekiguchi H, Alaluusua S, Minaguchi K, Yakushui M. A new mutation in the amelogenin gene causes X-linked amelogenesis imperfecta. J Dent Res 2001;80(SI):617 (Abstract 0722).

40. Lagerstrom-Fermer M, Nilsson M, Backman B, Salido E, Shapiro L, Pettersson U, Landegren U. Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. Genomics 1995;26:159-162.

41. Lench NJ, Winter GB. Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1). Human Mut 1995;5:251-259.

42. Sekiguchi H, Kiyoshi M, Yakushiji M. DNA diagnosis of X-linked amelogensis imperfecta using PCR detection method of the human amelogenin gene. Dent Japan 2001;37:109-112.

43. Aldred MJ, Crawford PJM, Roberts E, Thomas NST. Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1). Hum Genet 1992;90:413-416.

44. Collier PM, Sauk JJ, Rosenbloom J, Yuan ZA, Gibson CW. An amelogenin gene defect associated with human x-linked amelogenesis imperfecta. Archs Oral Biol 1997;42:235-242.

45. Hart S, Hart T, Gibson C, Wright JT. Mutational analysis of X-linked amelogenesis imperfecta in multiple families. Archs Oral Biol 2000;45:79-86.

46. Greene SR, Yuan ZA, Wright JT, Amjad AH, Abrams WR, Buchanan JA, Gibson GW. A gene deletion resulting in amelogenin with nine cysteine residues leads to amelogenesis imperfecta. Archs Oral Biol 2002;47:211-217.

47. Kindelan S, Brook A, Gangemi L, Lench N, Wong F, Fearne J, Jackson Z, Foster G, BMJ S. Detection of a novel mutation in X-linked amelogenesis imperfecta. J Dent Res 2000;79:1978-1982.

48. Lench NJ, Brook AH, Winter GB. SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta. Human Mol Genet 1994;3:827-828.

49. Shields ED, Bixler D, El-Kafrawy AM. A proposed classification for heritable human dentine defects with a description of a new entity. Archs Oral Biol 1973;18:543-553.

50. Byers PH, Chessler SD, Starman BJ, Willing MC, Wallis GA, Kadler K, Cohn DH. Molecular basis of osteogenesis imperfecta. In: Slavkin H, Price P, eds. The Chemistry and Biology of Mineralized Tissues. Amsterdam: Elsevier Science Pub, 1992;427-432.

51. MacDougall M, Jeffords LG, Gu TT, Knight CB, Frei G, Reus BE, Otterud B, Leppert M. Genetic linkage of the dentinogenesis imperfecta type III locus to chromsome 4q. J Dent Res 1999;78:1277-1282.

52. Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, Fu G, Qian M, Yang J, Shi Y, Hu L, Han B, Wang Z, Huang W, Liu J, Chen Z, Zhao G, Kong X. Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet 2001;27:201-204.

53. Zhang X, Zhao J, Li C, Gao S, Liu P, Wu G, Qiang B, Lo W, Shen Y. DSPP mutation in dentinogenesis imperfecta Shields type II. Nat Genet 2001;27:151-152.

54. Kalk WWI, Batenburg RHK, Vissink A. Dentin dysplasia type I five cases within one family. Oral Surg, Oral Med, Oral Pathol, Oral Radiol Endod 1998;86:175-178.

55. Ranta H, Lukinmaa P-L, Waltimo J. Heritable dentin defects: nosology, pathology, and treatment. Am J Med Genet 1993;45:193-200.

56. Dean JA, Hartsfield JKJ, Casada JC, Wright JT, Hart TC. Genetic linkage of dentin dysplasia type II to chromosome 4q13. J Craniofac Genet Dev Biol 1997;17:172-177.

57. Wright J, Thornton J. Osteogenesis Imperfecta with Dentinogenesis Imperfecta: A Mistaken Case of Child Abuse,. Pediatr Dent 1983;5::207-209.

58. Linde A, Goldberg M. Dentinogenesis. Crit Rev Oral Biol Med 1993;4:679-728.

59. Butler WT, Ritchie HH, Bronckers ALJJ. Extracellular matrix proteins of dentine. Dental Enamel. Chichester: John Wiley & Sons, 1997;107-117.

60. Pashley DH. Dynamics of the pulpo-dentin complex. Crit Rev Oral Biol Med 1996;7:104-133.

61. Tziafas D. Basic mechanisms of cytodifferentiation and dentinogenesis during dental pulp repair. In J Dev Biol 1995;39:281-290.

62. Solheim T. Amount of secondary dentin as an indicator of age. Scan J Dent Res 1992;100:193-199.