-
1
-
-
0018257937
-
The Rieger syndrome
-
Jorgenson RJ, Levin LS, Cross HE, Yoder F, Kelly TE. The Rieger syndrome. Am J Med Genet 1978;2:307-18.
-
(1978)
Am J Med Genet
, vol.2
, pp. 307-318
-
-
Jorgenson, R.J.1
Levin, L.S.2
Cross, H.E.3
Yoder, F.4
Kelly, T.E.5
-
3
-
-
0028471699
-
Williams syndrome: Oral presentation of 45 cases
-
Hertzberg J, Nakisbendi L, Needleman HL, Pober B. Williams syndrome: oral presentation of 45 cases. Pediatr Dent 1994;16(4):262-7.
-
(1994)
Pediatr Dent
, vol.16
, Issue.4
, pp. 262-267
-
-
Hertzberg, J.1
Nakisbendi, L.2
Needleman, H.L.3
Pober, B.4
-
4
-
-
0019850335
-
Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency
-
Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981;99:565-9.
-
(1981)
J Pediatr
, vol.99
, pp. 565-569
-
-
Niikawa, N.1
Matsuura, N.2
Fukushima, Y.3
Ohsawa, T.4
Kajii, T.5
-
6
-
-
0025713265
-
Single maxillary central incisor in association with mid-line anomalies
-
Fleming P, Nelson J, Gorlin RJ. Single maxillary central incisor in association with mid-line anomalies. Br Dent J 1990;168:476-9.
-
(1990)
Br Dent J
, vol.168
, pp. 476-479
-
-
Fleming, P.1
Nelson, J.2
Gorlin, R.J.3
-
8
-
-
0015043960
-
Agenesis and tooth size in the permanent dentition
-
Baum BJ, Cohen MM. Agenesis and tooth size in the permanent dentition. Angle Orthod 1971;41(2):100-2.
-
(1971)
Angle Orthod
, vol.41
, Issue.2
, pp. 100-102
-
-
Baum, B.J.1
Cohen, M.M.2
-
9
-
-
0024227103
-
Dominant inheritance of tooth malpositions and their association to hypodontia
-
Svinhufvud E, Myllarniemi S, Norio R. Dominant inheritance of tooth malpositions and their association to hypodontia. Clin Genet 1988;34:373-81.
-
(1988)
Clin Genet
, vol.34
, pp. 373-381
-
-
Svinhufvud, E.1
Myllarniemi, S.2
Norio, R.3
-
10
-
-
0000238590
-
Taurodontism associated with other dental abnormalities
-
Stoy PJ. Taurodontism associated with other dental abnormalities. Dent Pract Dent Rec 1960;10:202-5.
-
(1960)
Dent Pract Dent Rec
, vol.10
, pp. 202-205
-
-
Stoy, P.J.1
-
11
-
-
0024835459
-
A controlled study of the association of various dental anomalies with hypodontia of permanent teeth
-
Lai PY, Seow WK. A controlled study of the association of various dental anomalies with hypodontia of permanent teeth. Pediatr Dent 1989;11:291-6.
-
(1989)
Pediatr Dent
, vol.11
, pp. 291-296
-
-
Lai, P.Y.1
Seow, W.K.2
-
12
-
-
0032185298
-
Tooth rotation associated with aplasia of nonadjacent teeth
-
Baccetti T. Tooth rotation associated with aplasia of nonadjacent teeth. Angle Orthod 1998;68:471-4.
-
(1998)
Angle Orthod
, vol.68
, pp. 471-474
-
-
Baccetti, T.1
-
13
-
-
0035377439
-
Where will the genome lead us? Dentistry in the 21st century
-
Yeager AL. Where will the genome lead us? Dentistry in the 21st century. JADA 2001;132:801-7.
-
(2001)
JADA
, vol.132
, pp. 801-807
-
-
Yeager, A.L.1
-
14
-
-
0038826688
-
Microarrays and clinical dentistry
-
Kuo WP, Whipple ME, Jenssen TK, et al. Microarrays and clinical dentistry. JADA 2003;134:456-62.
-
(2003)
JADA
, vol.134
, pp. 456-462
-
-
Kuo, W.P.1
Whipple, M.E.2
Jenssen, T.K.3
-
15
-
-
0033192764
-
Announcing the biotechnology century
-
Slavkin HC. Announcing the biotechnology century. JADA 1999;130:1374-8.
-
(1999)
JADA
, vol.130
, pp. 1374-1378
-
-
Slavkin, H.C.1
-
16
-
-
0025740360
-
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
-
Lagerstrom M, Dahl N, Nakahori Y, et al. A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Genomics 1991;10:971-5.
-
(1991)
Genomics
, vol.10
, pp. 971-975
-
-
Lagerstrom, M.1
Dahl, N.2
Nakahori, Y.3
-
17
-
-
0030017452
-
A human MSX1 homeodomain missense mutation causes selective tooth agenesis
-
Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet 1996;13:417-21.
-
(1996)
Nat Genet
, vol.13
, pp. 417-421
-
-
Vastardis, H.1
Karimbux, N.2
Guthua, S.W.3
Seidman, J.G.4
Seidman, C.E.5
-
18
-
-
0032709548
-
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis
-
Toomes C, James J, Wood AJ, et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet 1999;23:421-4.
-
(1999)
Nat Genet
, vol.23
, pp. 421-424
-
-
Toomes, C.1
James, J.2
Wood, A.J.3
-
19
-
-
0033986083
-
Mutation of PAX9 is associated with oligodontia
-
Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI. Mutation of PAX9 is associated with oligodontia. Nat Genet 2000;24:18-9.
-
(2000)
Nat Genet
, vol.24
, pp. 18-19
-
-
Stockton, D.W.1
Das, P.2
Goldenberg, M.3
D'Souza, R.N.4
Patel, P.I.5
-
21
-
-
0035134329
-
DSPP mutation in dentinogenesis imperfecta Shields type II
-
Zhang X, Zhao J, Li C, et al. DSPP mutation in dentinogenesis imperfecta Shields type II. Nat Genet 2001;27:151-2.
-
(2001)
Nat Genet
, vol.27
, pp. 151-152
-
-
Zhang, X.1
Zhao, J.2
Li, C.3
-
22
-
-
0035136682
-
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP (published correction appears in Nat Genet 2001;27:345)
-
Xiao S, Yu C, Chou X, et al. Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP (published correction appears in Nat Genet 2001;27:345). Nat Genet 2001;27:201-4.
-
(2001)
Nat Genet
, vol.27
, pp. 201-204
-
-
Xiao, S.1
Yu, C.2
Chou, X.3
-
23
-
-
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. Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. Hum Mol Genet 2001;10:1673-7.
-
(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
-
24
-
-
9144248989
-
Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects
-
Hart TC, Hart PS, Gorry MC, et al. Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. J Med Genet 2003;40:900-6.
-
(2003)
J Med Genet
, vol.40
, pp. 900-906
-
-
Hart, T.C.1
Hart, P.S.2
Gorry, M.C.3
-
25
-
-
7244245762
-
Finishing the euchromatic sequence of the human genome
-
International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 2004;431:931-45.
-
(2004)
Nature
, vol.431
, pp. 931-945
-
-
-
26
-
-
0020174415
-
Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA
-
Robson KJ, Chandra T, MacGillivray RT, Woo SL. Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA. Proc Natl Acad Sci U S A 1982;79:4701-5.
-
(1982)
Proc Natl Acad Sci U S A
, vol.79
, pp. 4701-4705
-
-
Robson, K.J.1
Chandra, T.2
MacGillivray, R.T.3
Woo, S.L.4
-
27
-
-
0021839541
-
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome
-
Francke U, Ochs HD, de Martinville B, et al. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet 1985;37:250-67.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 250-267
-
-
Francke, U.1
Ochs, H.D.2
De Martinville, B.3
-
28
-
-
0022972531
-
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome
-
van Ommen GJ, Verkerk JM, Hofker MH, et al. A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell 1986;47:499-504.
-
(1986)
Cell
, vol.47
, pp. 499-504
-
-
Van Ommen, G.J.1
Verkerk, J.M.2
Hofker, M.H.3
-
29
-
-
0021863554
-
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment
-
Monaco AP, Bertelson CJ, Middlesworth W, et al. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 1985;316:842-5.
-
(1985)
Nature
, vol.316
, pp. 842-845
-
-
Monaco, A.P.1
Bertelson, C.J.2
Middlesworth, W.3
-
30
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
-
Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-17.
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Hoffman, E.P.2
Bertelson, C.J.3
Monaco, A.P.4
Feener, C.5
Kunkel, L.M.6
-
31
-
-
0036556243
-
Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia
-
Das P, Stockton DW, Bauer C, et al. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum Genet 2002;110:371-6.
-
(2002)
Hum Genet
, vol.110
, pp. 371-376
-
-
Das, P.1
Stockton, D.W.2
Bauer, C.3
-
32
-
-
17844373857
-
Genetics of type 2 diabetes
-
Barroso I. Genetics of type 2 diabetes. Diabet Med 2005;22:517-35.
-
(2005)
Diabet Med
, vol.22
, pp. 517-535
-
-
Barroso, I.1
-
33
-
-
12144275864
-
Type 1 diabetes mellitus of man: Genetic susceptibility and resistance
-
Pugliese A, Eisenbarth GS. Type 1 diabetes mellitus of man: genetic susceptibility and resistance. Adv Exp Med Biol 2004;552:170-203.
-
(2004)
Adv Exp Med Biol
, vol.552
, pp. 170-203
-
-
Pugliese, A.1
Eisenbarth, G.S.2
-
34
-
-
0043026853
-
Genetic evaluation for coronary artery disease
-
Scheuner MT. Genetic evaluation for coronary artery disease. Genet Med 2003;5(4):269-85.
-
(2003)
Genet Med
, vol.5
, Issue.4
, pp. 269-285
-
-
Scheuner, M.T.1
-
35
-
-
18144422363
-
The challenges and surprises of studying the genetics of age-related macular degeneration
-
Traboulsi EI. The challenges and surprises of studying the genetics of age-related macular degeneration. Am J Ophthalmol 2005;139:908-11.
-
(2005)
Am J Ophthalmol
, vol.139
, pp. 908-911
-
-
Traboulsi, E.I.1
-
36
-
-
1642383053
-
The complex genetics of cleft lip and palate
-
Cobourne MT. The complex genetics of cleft lip and palate. Eur J Orthod 2004;26(1):7-16.
-
(2004)
Eur J Orthod
, vol.26
, Issue.1
, pp. 7-16
-
-
Cobourne, M.T.1
-
37
-
-
19944427292
-
Genetic basis for individual variations in pain perception and the development of a chronic pain condition
-
Diatchenko L, Slade GD, Nackley AG, et al. Genetic basis for individual variations in pain perception and the development of a chronic pain condition. Hum Mol Genet 2005;14(1):135-43.
-
(2005)
Hum Mol Genet
, vol.14
, Issue.1
, pp. 135-143
-
-
Diatchenko, L.1
Slade, G.D.2
Nackley, A.G.3
-
38
-
-
0037373275
-
Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease
-
Botstein D, Risch N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet 2003;33(supplement):228-37.
-
(2003)
Nat Genet
, vol.33
, Issue.SUPPL.
, pp. 228-237
-
-
Botstein, D.1
Risch, N.2
-
39
-
-
0027485181
-
Linkage analysis versus association analysis: Distinguishing between two models that explain disease-marker associations
-
Hodge SE. Linkage analysis versus association analysis: distinguishing between two models that explain disease-marker associations. Am J Hum Genet 1993;53:367-84.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 367-384
-
-
Hodge, S.E.1
-
40
-
-
0025008677
-
Linkage strategies for genetically complex traits, part II: The power of affected relative pairs
-
Risch N. Linkage strategies for genetically complex traits, part II: the power of affected relative pairs. Am J Hum Genet 1990;46:229-41.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 229-241
-
-
Risch, N.1
-
41
-
-
0029001682
-
Extreme discordant sib pairs for mapping quantitative trait loci in humans
-
Risch N, Zhang H. Extreme discordant sib pairs for mapping quantitative trait loci in humans. Science 1995;268:1584-9.
-
(1995)
Science
, vol.268
, pp. 1584-1589
-
-
Risch, N.1
Zhang, H.2
-
42
-
-
0031912715
-
A sibship test for linkage in the presence of association: The sib transmission/disequilibrium test
-
Spielman RS, Ewens WJ. A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test. Am J Hum Genet 1998;62:450-8.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 450-458
-
-
Spielman, R.S.1
Ewens, W.J.2
-
43
-
-
0025732253
-
Testing for association between disease and linked marker loci: A log-linear-model analysis
-
Tiret L, Amouyel P, Rakotovao R, Cambien F, Ducimetiere P. Testing for association between disease and linked marker loci: a log-linear-model analysis. Am J Hum Genet 1991;48:926-34.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 926-934
-
-
Tiret, L.1
Amouyel, P.2
Rakotovao, R.3
Cambien, F.4
Ducimetiere, P.5
-
44
-
-
2042437650
-
Initial sequencing and analysis of the human genome (published corrections appear in Nature 2001;412:565; Nature 2001;411:720)
-
Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome (published corrections appear in Nature 2001;412:565; Nature 2001;411:720). Nature 2001;409:860-921).
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
-
45
-
-
0032509302
-
Genome sequence of the nematode C. elegans: A platform for investigating biology (published corrections appear in Science 1999;283:35; Science 1999;283:2103; Science 1999;285:1493)
-
C. elegans Sequencing Consortium. Genome sequence of the nematode C. elegans: a platform for investigating biology (published corrections appear in Science 1999;283:35; Science 1999;283:2103; Science 1999;285:1493). Science 1998;282:2012-8.
-
(1998)
Science
, vol.282
, pp. 2012-2018
-
-
-
46
-
-
0034708480
-
The genome sequence of Drosophila melanogaster
-
Adams MD, Celniker SE, Holt RA, et al. The genome sequence of Drosophila melanogaster. Science 2000;287:2185-95.
-
(2000)
Science
, vol.287
, pp. 2185-2195
-
-
Adams, M.D.1
Celniker, S.E.2
Holt, R.A.3
-
47
-
-
10644283823
-
Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution (published correction appears in Nature 2005;433:777)
-
Hillier LW, Miller W, Birney E, et al. Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution (published correction appears in Nature 2005;433:777). Nature 2004;432:695-716.
-
(2004)
Nature
, vol.432
, pp. 695-716
-
-
Hillier, L.W.1
Miller, W.2
Birney, E.3
-
48
-
-
1542563409
-
Initial sequencing and comparative analysis of the mouse genome
-
Waterston RH, Lindblad-Toh K, Birney E, et al. Initial sequencing and comparative analysis of the mouse genome. Nature 2002;420:520-62.
-
(2002)
Nature
, vol.420
, pp. 520-562
-
-
Waterston, R.H.1
Lindblad-Toh, K.2
Birney, E.3
-
49
-
-
0034956159
-
A re-annotation of the Saccharomyces cerevisiae genome
-
Wood V, Rutherford KM, Ivens A, Rajandream M-A, Barrell B. A re-annotation of the Saccharomyces cerevisiae genome. Comp Funct Genomics 2001;2(3):143-54.
-
(2001)
Comp Funct Genomics
, vol.2
, Issue.3
, pp. 143-154
-
-
Wood, V.1
Rutherford, K.M.2
Ivens, A.3
Rajandream, M.-A.4
Barrell, B.5
-
51
-
-
0034445306
-
Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia
-
Goldenberg M, Das P, Messersmith M, Stockton DW, Patel PI, D'Souza RN. Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia. J Dent Res 2000;79:1469-75.
-
(2000)
J Dent Res
, vol.79
, pp. 1469-1475
-
-
Goldenberg, M.1
Das, P.2
Messersmith, M.3
Stockton, D.W.4
Patel, P.I.5
D'Souza, R.N.6
-
52
-
-
0032169255
-
PAX9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities
-
Peters H, Neubuser A, Kratochwil K, Balling R. PAX9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev 1998;12:2735-47.
-
(1998)
Genes Dev
, vol.12
, pp. 2735-2747
-
-
Peters, H.1
Neubuser, A.2
Kratochwil, K.3
Balling, R.4
-
53
-
-
0038028264
-
Antagonistic interactions between FGF and BMP signaling pathways: A mechanism for positioning the sites of tooth formation
-
Neubuser A, Peters H, Balling R, Martin GR. Antagonistic interactions between FGF and BMP signaling pathways: a mechanism for positioning the sites of tooth formation. Cell 1997;90:247-55.
-
(1997)
Cell
, vol.90
, pp. 247-255
-
-
Neubuser, A.1
Peters, H.2
Balling, R.3
Martin, G.R.4
-
54
-
-
0034748051
-
Identification of a nonsense mutation in the PAX9 gene in molar oligodontia
-
Nieminen P, Arte S, Tanner D, et al. Identification of a nonsense mutation in the PAX9 gene in molar oligodontia. Eur J Hum Genet 2001;9:743-6.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 743-746
-
-
Nieminen, P.1
Arte, S.2
Tanner, D.3
-
55
-
-
0042822121
-
Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia
-
Das P, Hai M, Elcock C, et al. Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. Am J Med Genet 2003;118:35-42.
-
(2003)
Am J Med Genet
, vol.118
, pp. 35-42
-
-
Das, P.1
Hai, M.2
Elcock, C.3
-
56
-
-
1242294402
-
Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans
-
Mensah JK, Ogawa T, Kapadia H, Cavender AC, D'Souza RN. Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. J Biol Chem 2004;279:5924-33.
-
(2004)
J Biol Chem
, vol.279
, pp. 5924-5933
-
-
Mensah, J.K.1
Ogawa, T.2
Kapadia, H.3
Cavender, A.C.4
D'Souza, R.N.5
|