-
1
-
-
0027074920
-
Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1)
-
Aldred MJ, Crawford PJ, Roberts E, Thomas NS. 1992. Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1). Hum Gene 90:413-416.
-
(1992)
Hum Gene
, vol.90
, pp. 413-416
-
-
Aldred, M.J.1
Crawford, P.J.2
Roberts, E.3
Thomas, N.S.4
-
2
-
-
0034474291
-
The Dlx3 protein harbors basic residues required for nuclear localization, transcriptional activity, and binding to Msx1
-
Bryan JT, Morasso MI. 2000. The Dlx3 protein harbors basic residues required for nuclear localization, transcriptional activity, and binding to Msx1. J Cell Sci 113:4013-4023.
-
(2000)
J Cell Sci
, vol.113
, pp. 4013-4023
-
-
Bryan, J.T.1
Morasso, M.I.2
-
3
-
-
0034303215
-
Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus
-
Dong J, Gu TT, Simmons D, MacDougall M. 2000. Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. Eur J Oral Sci 108:353-358.
-
(2000)
Eur J Oral Sci
, vol.108
, pp. 353-358
-
-
Dong, J.1
Gu, T.T.2
Simmons, D.3
MacDougall, M.4
-
5
-
-
0028059583
-
Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q
-
Forsman K, Lind L, Backman B, Westermark E, Holmgren G. 1994. Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q. Hum Mol Genet 3:1621-1625.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1621-1625
-
-
Forsman, K.1
Lind, L.2
Backman, B.3
Westermark, E.4
Holmgren, G.5
-
6
-
-
0038644188
-
Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature
-
Hart PS, Michalec MD, Seow WK, Hart TC, Wright JT. 2003a. Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. Arch Oral Biol 48:589-596.
-
(2003)
Arch Oral Biol
, vol.48
, pp. 589-596
-
-
Hart, P.S.1
Michalec, M.D.2
Seow, W.K.3
Hart, T.C.4
Wright, J.T.5
-
7
-
-
9144248989
-
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. 2003b. Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. J Med Genet 40:900-906.
-
(2003)
J Med Genet
, vol.40
, pp. 900-906
-
-
Hart, T.C.1
Hart, P.S.2
Gorry, M.C.3
Michalec, M.D.4
Ryu, O.H.5
Uygur, C.6
Ozdemir, D.7
Firatli, S.8
Aren, G.9
Firatli, E.10
-
8
-
-
0034439816
-
Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development
-
Hu CC, Hart TC, Dupont BR, Chen JJ, Sun X, Qian Q, Zhang CH, Jiang H, Mattern VL, Wright JT, Simmer JP. 2000. Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development. J Dent Res 79:912-919.
-
(2000)
J Dent Res
, vol.79
, pp. 912-919
-
-
Hu, C.C.1
Hart, T.C.2
Dupont, B.R.3
Chen, J.J.4
Sun, X.5
Qian, Q.6
Zhang, C.H.7
Jiang, H.8
Mattern, V.L.9
Wright, J.T.10
Simmer, J.P.11
-
9
-
-
0030210023
-
Genetic heterogeneity of autosomal dominant amelogenesis imperfecta demonstrated by its exclusion from the AIH2 region on human chromosome 4Q
-
Karrman C, Backman B, Holmgren G, Forsman K. 1996. Genetic heterogeneity of autosomal dominant amelogenesis imperfecta demonstrated by its exclusion from the AIH2 region on human chromosome 4Q. Arch Oral Biol 41:893-900.
-
(1996)
Arch Oral Biol
, vol.41
, pp. 893-900
-
-
Karrman, C.1
Backman, B.2
Holmgren, G.3
Forsman, K.4
-
10
-
-
0031568256
-
Mapping of the locus for autosomal dominant amelogenesis imperfecta (AIH2) to a 4-Mb YAC contig on chromosome 4q11-q21
-
Karrman C, Backman B, Dixon M, Holmgren G, Forsman K. 1997. Mapping of the locus for autosomal dominant amelogenesis imperfecta (AIH2) to a 4-Mb YAC contig on chromosome 4q11-q21. Genomics 39:164-170.
-
(1997)
Genomics
, vol.39
, pp. 164-170
-
-
Karrman, C.1
Backman, B.2
Dixon, M.3
Holmgren, G.4
Forsman, K.5
-
11
-
-
0036827621
-
Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary
-
Kida M, Ariga T, Shirakawa T, Oguchi H, Sakiyama Y. 2002. Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary. J Dent Res 81:738-742.
-
(2002)
J Dent Res
, vol.81
, pp. 738-742
-
-
Kida, M.1
Ariga, T.2
Shirakawa, T.3
Oguchi, H.4
Sakiyama, Y.5
-
12
-
-
0025740360
-
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
-
Lagerstrom M, Dahl N, Nakahori Y, Nakagome Y, Backman B, Landegren U, Pettersson U. 1991. A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Genomics 10:971-975.
-
(1991)
Genomics
, vol.10
, pp. 971-975
-
-
Lagerstrom, M.1
Dahl, N.2
Nakahori, Y.3
Nakagome, Y.4
Backman, B.5
Landegren, U.6
Pettersson, U.7
-
13
-
-
0028947327
-
Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1)
-
Lench NJ, Winter GB. 1995. Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1). Hum Mutat 5:251-259.
-
(1995)
Hum Mutat
, vol.5
, pp. 251-259
-
-
Lench, N.J.1
Winter, G.B.2
-
14
-
-
17544404939
-
Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21
-
MacDougall M, DuPont BR, Simmons D, Reus B, Krebsbach P, Karrman C, Holmgren G, Leach RJ, Forsman K. 1997. Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21. Genomics 41:115-118.
-
(1997)
Genomics
, vol.41
, pp. 115-118
-
-
MacDougall, M.1
DuPont, B.R.2
Simmons, D.3
Reus, B.4
Krebsbach, P.5
Karrman, C.6
Holmgren, G.7
Leach, R.J.8
Forsman, K.9
-
15
-
-
0036566265
-
A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2)
-
Mardh CK, Backman B, Holmgren G, Hu JC, Simmer JP, Forsman-Semb K. 2002. A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). Hum Mol Genet 11:1069-1074.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1069-1074
-
-
Mardh, C.K.1
Backman, B.2
Holmgren, G.3
Hu, J.C.4
Simmer, J.P.5
Forsman-Semb, K.6
-
16
-
-
0031912018
-
Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome
-
Price JA, Bowden DW, Wright JT, Pettenati MJ, Hart TC. 1998a. Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome. Hum Mol Genet 7:563-569.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 563-569
-
-
Price, J.A.1
Bowden, D.W.2
Wright, J.T.3
Pettenati, M.J.4
Hart, T.C.5
-
17
-
-
0031657776
-
A common DLX3 gene mutation is responsible for tricho-dento-osseous syndrome in Virginia and North Carolina families
-
Price JA, Wright JT, Kula K, Bowden DW, Hart TC. 1998b. A common DLX3 gene mutation is responsible for tricho-dento-osseous syndrome in Virginia and North Carolina families. J Med Genet 35:825-828.
-
(1998)
J Med Genet
, vol.35
, pp. 825-828
-
-
Price, J.A.1
Wright, J.T.2
Kula, K.3
Bowden, D.W.4
Hart, T.C.5
-
18
-
-
0032872958
-
Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions
-
Price JA, Wright JT, Walker SJ, Crawford PJ, Aldred MJ, Hart TC. 1999. Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions. Clin Genet 56:35-40.
-
(1999)
Clin Genet
, vol.56
, pp. 35-40
-
-
Price, J.A.1
Wright, J.T.2
Walker, S.J.3
Crawford, P.J.4
Aldred, M.J.5
Hart, T.C.6
-
19
-
-
0035422249
-
Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta
-
Rajpar MH, Harley K, Laing C, Davies RM, Dixon MJ. 2001. Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. Hum Mol Genet 10:1673-1677.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1673-1677
-
-
Rajpar, M.H.1
Harley, K.2
Laing, C.3
Davies, R.M.4
Dixon, M.J.5
-
20
-
-
0029282049
-
Assignment of the human homolog of mouse Dlx3 to chromosome 17q21.3-q22 by analysis of somatic cell hybrids and fluorescence in situ hybridization
-
Scherer SW, Heng HH, Robinson GW, Mahon KA, Evans JP, Tsui LC. 1995. Assignment of the human homolog of mouse Dlx3 to chromosome 17q21.3-q22 by analysis of somatic cell hybrids and fluorescence in situ hybridization. Mamm Genome 6:310-311.
-
(1995)
Mamm Genome
, vol.6
, pp. 310-311
-
-
Scherer, S.W.1
Heng, H.H.2
Robinson, G.W.3
Mahon, K.A.4
Evans, J.P.5
Tsui, L.C.6
|