-
1
-
-
66349093117
-
A novel COL1A1 gene-splicing mutation (c.1875+1G>C) in a Brazilian patient with osteogenesis imperfecta
-
Barbirato C, Almeida MG, Milanez M et al (2009). A novel COL1A1 gene-splicing mutation (c.1875+1G>C) in a Brazilian patient with osteogenesis imperfecta. Genet Mol Res 8: 173-178.
-
(2009)
Genet Mol Res
, vol.8
, pp. 173-178
-
-
Barbirato, C.1
Almeida, M.G.2
Milanez, M.3
-
2
-
-
0032185624
-
Dentin sialoprotein, dentin phosphoprotein, enamelysin and ameloblastin: tooth-specific molecules that are distinctively expressed during murine dental differentiation
-
Begue-Kirn C, Krebsbach PH, Bartlett JD, Butler WT (1998). Dentin sialoprotein, dentin phosphoprotein, enamelysin and ameloblastin: tooth-specific molecules that are distinctively expressed during murine dental differentiation. Eur J Oral Sci 106: 963-970.
-
(1998)
Eur J Oral Sci
, vol.106
, pp. 963-970
-
-
Begue-Kirn, C.1
Krebsbach, P.H.2
Bartlett, J.D.3
Butler, W.T.4
-
3
-
-
33845460691
-
Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disorders
-
De Coster PJ, Cornelissen M, De Paepe A, Martens LC, Vral A (2007). Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disorders. Arch Oral Biol 52: 101-109.
-
(2007)
Arch Oral Biol
, vol.52
, pp. 101-109
-
-
De Coster, P.J.1
Cornelissen, M.2
De Paepe, A.3
Martens, L.C.4
Vral, A.5
-
5
-
-
0022083926
-
An unusual presentation of opalescent dentin and Brandywine isolate hereditary opalescent dentin in an Ashkenazic Jewish family
-
Heimler A, Sciubba J, Lieber E, Kamen S (1985). An unusual presentation of opalescent dentin and Brandywine isolate hereditary opalescent dentin in an Ashkenazic Jewish family. Oral Surg Oral Med Oral Pathol 59: 608-615.
-
(1985)
Oral Surg Oral Med Oral Pathol
, vol.59
, pp. 608-615
-
-
Heimler, A.1
Sciubba, J.2
Lieber, E.3
Kamen, S.4
-
6
-
-
33749519573
-
Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II
-
Holappa H, Nieminen P, Tolva L, Lukinmaa PL, Alaluusua S (2006). Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II. Eur J Oral Sci 114: 381-384.
-
(2006)
Eur J Oral Sci
, vol.114
, pp. 381-384
-
-
Holappa, H.1
Nieminen, P.2
Tolva, L.3
Lukinmaa, P.L.4
Alaluusua, S.5
-
7
-
-
73149083242
-
De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family
-
Kida M, Tsutsumi T, Shindoh M, Ikeda H, Ariga T (2009). De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family. Eur J Oral Sci 117: 691-694.
-
(2009)
Eur J Oral Sci
, vol.117
, pp. 691-694
-
-
Kida, M.1
Tsutsumi, T.2
Shindoh, M.3
Ikeda, H.4
Ariga, T.5
-
8
-
-
34249322628
-
Hereditary dentin defects
-
Kim JW, Simmer JP (2007). Hereditary dentin defects. J Dent Res 86: 392-399.
-
(2007)
J Dent Res
, vol.86
, pp. 392-399
-
-
Kim, J.W.1
Simmer, J.P.2
-
9
-
-
4344592119
-
A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II
-
Kim JW, Nam SH, Jang KT et al (2004). A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet 115: 248-254.
-
(2004)
Hum Genet
, vol.115
, pp. 248-254
-
-
Kim, J.W.1
Nam, S.H.2
Jang, K.T.3
-
10
-
-
19944431252
-
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II
-
Kim JW, Hu JC, Lee JI et al (2005). Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet 116: 186-191.
-
(2005)
Hum Genet
, vol.116
, pp. 186-191
-
-
Kim, J.W.1
Hu, J.C.2
Lee, J.I.3
-
11
-
-
56249142719
-
A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia
-
Lee SK, Hu JC, Lee KE, Simmer JP, Kim JW (2008). A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. J Endod 34: 1470-1473.
-
(2008)
J Endod
, vol.34
, pp. 1470-1473
-
-
Lee, S.K.1
Hu, J.C.2
Lee, K.E.3
Simmer, J.P.4
Kim, J.W.5
-
12
-
-
58949102839
-
A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II
-
Lee SK, Lee KE, Jeon D et al (2009). A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II. J Dent Res 88: 51-55.
-
(2009)
J Dent Res
, vol.88
, pp. 51-55
-
-
Lee, S.K.1
Lee, K.E.2
Jeon, D.3
-
13
-
-
2542434141
-
Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II
-
Malmgren B, Lindskog S, Elgadi A, Norgren S (2004). Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. Hum Genet 114: 491-498.
-
(2004)
Hum Genet
, vol.114
, pp. 491-498
-
-
Malmgren, B.1
Lindskog, S.2
Elgadi, A.3
Norgren, S.4
-
14
-
-
58149401847
-
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta
-
McKnight DA, Simmer JP, Hart PS, Hart TC, Fisher LW (2008a). Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. J Dent Res 87: 1108-1111.
-
(2008)
J Dent Res
, vol.87
, pp. 1108-1111
-
-
McKnight, D.A.1
Simmer, J.P.2
Hart, P.S.3
Hart, T.C.4
Fisher, L.W.5
-
15
-
-
56249097309
-
A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene
-
McKnight DA, Suzanne HP, Hart TC et al (2008b). A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. Hum Mutat 29: 1392-1404.
-
(2008)
Hum Mutat
, vol.29
, pp. 1392-1404
-
-
McKnight, D.A.1
Suzanne, H.P.2
Hart, T.C.3
-
16
-
-
33746765713
-
Dentin-pulp complex
-
6th edn. Mosby: St. Louis, MO, USA.
-
Nanci A (2003). Dentin-pulp complex. Ten Cate's oral histology development, structure, and function, 6th edn. Mosby: St. Louis, MO, USA, pp. 192-239.
-
(2003)
Ten Cate's oral histology development, structure, and function
, pp. 192-239
-
-
Nanci, A.1
-
17
-
-
0035070524
-
Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta
-
Pallos D, Hart PS, Cortelli JR et al (2001). Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta. Arch Oral Biol 46: 459-470.
-
(2001)
Arch Oral Biol
, vol.46
, pp. 459-470
-
-
Pallos, D.1
Hart, P.S.2
Cortelli, J.R.3
-
18
-
-
0036796408
-
Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization
-
Rajpar MH, Koch MJ, Davies RM, Mellody KT, Kielty CM, Dixon MJ (2002). Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization. Hum Mol Genet 11: 2559-2565.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2559-2565
-
-
Rajpar, M.H.1
Koch, M.J.2
Davies, R.M.3
Mellody, K.T.4
Kielty, C.M.5
Dixon, M.J.6
-
19
-
-
0035350511
-
Dentinogenesis imperfecta: an early treatment strategy
-
Sapir S, Shapira J (2001). Dentinogenesis imperfecta: an early treatment strategy. Pediatr Dent 23: 232-237.
-
(2001)
Pediatr Dent
, vol.23
, pp. 232-237
-
-
Sapir, S.1
Shapira, J.2
-
20
-
-
0015612856
-
A proposed classification for heritable human dentine defects with a description of a new entity
-
Shields ED, Bixler D, el-Kafrawy AM (1973). A proposed classification for heritable human dentine defects with a description of a new entity. Arch Oral Biol 18: 543-553.
-
(1973)
Arch Oral Biol
, vol.18
, pp. 543-553
-
-
Shields, E.D.1
Bixler, D.2
el-Kafrawy, A.M.3
-
21
-
-
47149110211
-
Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population
-
Song YL, Wang CN, Fan MW, Su B, Bian Z (2008). Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population. J Med Genet 45: 457-464.
-
(2008)
J Med Genet
, vol.45
, pp. 457-464
-
-
Song, Y.L.1
Wang, C.N.2
Fan, M.W.3
Su, B.4
Bian, Z.5
-
22
-
-
0042591182
-
Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III
-
Sreenath T, Thyagarajan T, Hall B et al (2003). Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III. J Biol Chem 278: 24874-24880.
-
(2003)
J Biol Chem
, vol.278
, pp. 24874-24880
-
-
Sreenath, T.1
Thyagarajan, T.2
Hall, B.3
-
23
-
-
0038325685
-
Epithelial-mesenchymal signalling regulating tooth morphogenesis
-
Thesleff I (2003). Epithelial-mesenchymal signalling regulating tooth morphogenesis. J Cell Sci 116: 1647-1648.
-
(2003)
J Cell Sci
, vol.116
, pp. 1647-1648
-
-
Thesleff, I.1
-
24
-
-
60449088247
-
A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II
-
Wang H, Hou Y, Cui Y et al (2009). A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II. Mutat Res 662: 22-27.
-
(2009)
Mutat Res
, vol.662
, pp. 22-27
-
-
Wang, H.1
Hou, Y.2
Cui, Y.3
-
25
-
-
0035136682
-
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP
-
Xiao S, Yu C, Chou X et al (2001). Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet 27: 201-204.
-
(2001)
Nat Genet
, vol.27
, pp. 201-204
-
-
Xiao, S.1
Yu, C.2
Chou, X.3
-
26
-
-
0035134329
-
DSPP mutation in dentinogenesis imperfecta Shields type II
-
Zhang X, Zhao J, Li C et al (2001). DSPP mutation in dentinogenesis imperfecta Shields type II. Nat Genet 27: 151-152.
-
(2001)
Nat Genet
, vol.27
, pp. 151-152
-
-
Zhang, X.1
Zhao, J.2
Li, C.3
-
27
-
-
34848877727
-
A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family
-
Zhang X, Chen L, Liu J et al (2007). A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family. BMC Med Genet 8: 52.
-
(2007)
BMC Med Genet
, vol.8
, pp. 52
-
-
Zhang, X.1
Chen, L.2
Liu, J.3
|