-
1
-
-
17244383093
-
Dissecting the genetics of human high myopia: A molecular biologic approach
-
Young TL. Dissecting the genetics of human high myopia: a molecular biologic approach. Trans Am Ophthalmol Soc. 2004;102: 423-445.
-
(2004)
Trans Am Ophthalmol Soc
, vol.102
, pp. 423-445
-
-
Young, T.L.1
-
4
-
-
0000945678
-
Collagen and protein levels in sclera during normal development, induced myopia, and recovery in tree shrews
-
Norton TT, Miller EJ. Collagen and protein levels in sclera during normal development, induced myopia, and recovery in tree shrews. Invest Ophthalmol Vis Sci. 1995;36:S760-S760.
-
(1995)
Invest Ophthalmol Vis Sci
, vol.36
-
-
Norton, T.T.1
Miller, E.J.2
-
5
-
-
0042804923
-
Role of the sclera in the development and pathological complications of myopia
-
McBrien NA, Gentle A. Role of the sclera in the development and pathological complications of myopia. Prog Retin Eye Res. 2003; 22:307-338.
-
(2003)
Prog Retin Eye Res
, vol.22
, pp. 307-338
-
-
McBrien, N.A.1
Gentle, A.2
-
6
-
-
0037593897
-
Collagen gene expression and the altered accumulation of scleral collagen during the development of high myopia
-
Gentle A, Liu Y, Martin JE, Conti GL, McBrien NA. Collagen gene expression and the altered accumulation of scleral collagen during the development of high myopia. J Biol Chem. 2003;278:16587-16594.
-
(2003)
J Biol Chem
, vol.278
, pp. 16587-16594
-
-
Gentle, A.1
Liu, Y.2
Martin, J.E.3
Conti, G.L.4
McBrien, N.A.5
-
7
-
-
1842452637
-
Microarray analysis of gene expression in human donor sclera
-
Young TL, Scavello GS, Paluru PC, Choi JD, Rappaport EF, Rada JA. Microarray analysis of gene expression in human donor sclera. Mol Vis. 2004;10:163-176.
-
(2004)
Mol Vis
, vol.10
, pp. 163-176
-
-
Young, T.L.1
Scavello, G.S.2
Paluru, P.C.3
Choi, J.D.4
Rappaport, E.F.5
Rada, J.A.6
-
8
-
-
0030789557
-
The human type I. collagen mutation database
-
Dalgleish R. The human type I collagen mutation database. Nucleic Acids Res. 1997;25:181-187.
-
(1997)
Nucleic Acids Res
, vol.25
, pp. 181-187
-
-
Dalgleish, R.1
-
9
-
-
0242500304
-
New locus for autosomal dominant high myopia maps to the long arm of chromosome 17
-
Paluru P, Ronan SM, Heon E, et al. New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci. 2003;44:1830-1836.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 1830-1836
-
-
Paluru, P.1
Ronan, S.M.2
Heon, E.3
-
10
-
-
34547745989
-
The COL1A1 gene and high myopia susceptibility in Japanese
-
Inamori Y, Ota M, Inoko H, et al. The COL1A1 gene and high myopia susceptibility in Japanese. Hum Genet. 2007;122:151-157.
-
(2007)
Hum Genet
, vol.122
, pp. 151-157
-
-
Inamori, Y.1
Ota, M.2
Inoko, H.3
-
11
-
-
59449095629
-
Absence of association between COL1A1 polymorphisms and high myopia in the Japanese population
-
Nakanishi H, Yamada R, Gotoh N, et al. Absence of association between COL1A1 polymorphisms and high myopia in the Japanese population. Invest Ophthalmol Vis Sci. 2009;50(2):544-550.
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, Issue.2
, pp. 544-550
-
-
Nakanishi, H.1
Yamada, R.2
Gotoh, N.3
-
12
-
-
33947687063
-
Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia
-
Liang CL, Hung KS, Tsai YY, Chang W, Wang HS, Juo SH. Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia. J Hum Genet. 2007;52:374-377.
-
(2007)
J Hum Genet
, vol.52
, pp. 374-377
-
-
Liang, C.L.1
Hung, K.S.2
Tsai, Y.Y.3
Chang, W.4
Wang, H.S.5
Juo, S.H.6
-
13
-
-
0026000341
-
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)
-
Ahmad NN, la-Kokko L, Knowlton RG, et al. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci U S A. 1991; 88:6624-6627.
-
(1991)
Proc Natl Acad Sci U S A
, vol.88
, pp. 6624-6627
-
-
Ahmad, N.N.1
La-Kokko, L.2
Knowlton, R.G.3
-
14
-
-
0041805505
-
The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1
-
Liberfarb RM, Levy HP, Rose PS, et al. The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. Genet Med. 2003;5:21-27.
-
(2003)
Genet Med
, vol.5
, pp. 21-27
-
-
Liberfarb, R.M.1
Levy, H.P.2
Rose, P.S.3
-
15
-
-
0031763844
-
Correlation of linkage data with phenotype in eight families with Stickler syndrome
-
Wilkin DJ, Mortier GR, Johnson CL, et al. Correlation of linkage data with phenotype in eight families with Stickler syndrome. Am J Med Genet. 1998;80:121-127.
-
(1998)
Am J Med Genet
, vol.80
, pp. 121-127
-
-
Wilkin, D.J.1
Mortier, G.R.2
Johnson, C.L.3
-
16
-
-
34347375054
-
Candidate gene and locus analysis of myopia
-
Mutti DO, Cooper ME, O'Brien S, et al. Candidate gene and locus analysis of myopia. Mol Vis. 2007;13:1012-1019.
-
(2007)
Mol Vis
, vol.13
, pp. 1012-1019
-
-
Mutti, D.O.1
Cooper, M.E.2
O'Brien, S.3
-
17
-
-
67649980200
-
An international collaborative family-based whole-genome linkage scan for high-grade myopia
-
Li YJ, Guggenheim JA, Bulusu A, et al. An international collaborative family-based whole-genome linkage scan for high-grade myopia. Invest Ophthalmol Vis Sci. 2009;50:3116-3127.
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, pp. 3116-3127
-
-
Li, Y.J.1
Guggenheim, J.A.2
Bulusu, A.3
-
18
-
-
27944436638
-
SNPselector: A web tool for selecting SNPs for genetic association studies
-
Xu H, Gregory SG, Hauser ER, et al. SNPselector: a web tool for selecting SNPs for genetic association studies. Bioinformatics. 2005;21:4181-4186.
-
(2005)
Bioinformatics
, vol.21
, pp. 4181-4186
-
-
Xu, H.1
Gregory, S.G.2
Hauser, E.R.3
-
19
-
-
4344587901
-
Linkage analysis of the genetic loci for high myopia on 18p, 12q, and 17q in 51 U.K. families
-
Farbrother JE, Kirov G, Owen MJ, Pong-Wong R, Haley CS, Guggenheim JA. Linkage analysis of the genetic loci for high myopia on 18p, 12q, and 17q in 51 U.K. families. Invest Ophthalmol Vis Sci. 2004;45:2879-2885.
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 2879-2885
-
-
Farbrother, J.E.1
Kirov, G.2
Owen, M.J.3
Pong-Wong, R.4
Haley, C.S.5
Guggenheim, J.A.6
-
20
-
-
0029185482
-
Exact tests for association between alleles at arbitrary numbers of loci
-
Zaykin D, Zhivotovsky L, Weir BS. Exact tests for association between alleles at arbitrary numbers of loci. Genetica. 1995;96: 169-178.
-
(1995)
Genetica
, vol.96
, pp. 169-178
-
-
Zaykin, D.1
Zhivotovsky, L.2
Weir, B.S.3
-
21
-
-
0034017850
-
GOLD: Graphical overview of linkage disequilibrium
-
Abecasis GR, Cookson WO. GOLD: graphical overview of linkage disequilibrium. Bioinformatics. 2000;16:182-183.
-
(2000)
Bioinformatics
, vol.16
, pp. 182-183
-
-
Abecasis, G.R.1
Cookson, W.O.2
-
22
-
-
33748042711
-
The APL test: Extension to general nuclear families and haplotypes and examination of its robustness
-
Chung RH, Hauser ER, Martin ER. The APL test: extension to general nuclear families and haplotypes and examination of its robustness. Hum Hered. 2006;61:189-199.
-
(2006)
Hum Hered
, vol.61
, pp. 189-199
-
-
Chung, R.H.1
Hauser, E.R.2
Martin, E.R.3
-
23
-
-
0033910787
-
A test for linkage and association in general pedigrees: The pedigree disequilibrium test
-
Martin ER, Monks SA, Warren LL, Kaplan NL. A test for linkage and association in general pedigrees: the pedigree disequilibrium test. Am J Hum Genet. 2000;67:146-154.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 146-154
-
-
Martin, E.R.1
Monks, S.A.2
Warren, L.L.3
Kaplan, N.L.4
-
24
-
-
0242522464
-
Accounting for linkage in family-based tests of association with missing parental genotypes
-
Martin ER, Bass MP, Hauser ER, Kaplan NL. Accounting for linkage in family-based tests of association with missing parental genotypes. Am J Hum Genet. 2003;73:1016-1026.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1016-1026
-
-
Martin, E.R.1
Bass, M.P.2
Hauser, E.R.3
Kaplan, N.L.4
-
25
-
-
0036020892
-
A direct approach to false discovery rates
-
Storey JD. A direct approach to false discovery rates. J R Stat Soc B. 2002;64:479-498.
-
(2002)
J R Stat Soc B
, vol.64
, pp. 479-498
-
-
Storey, J.D.1
-
26
-
-
0036338150
-
Merlin: Rapid analysis of dense genetic maps using sparse gene flow trees
-
Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin: rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet. 2002;30:97-101.
-
(2002)
Nat Genet
, vol.30
, pp. 97-101
-
-
Abecasis, G.R.1
Cherny, S.S.2
Cookson, W.O.3
Cardon, L.R.4
-
27
-
-
55449092600
-
Identification and replication of three novel myopia common susceptibility gene loci on chromosome 3q26 using linkage and linkage disequilibrium mapping
-
Andrew T, Maniatis N, Carbonaro F, et al. Identification and replication of three novel myopia common susceptibility gene loci on chromosome 3q26 using linkage and linkage disequilibrium mapping. PLoS Genet. 2008;4:e1000220.
-
(2008)
PLoS Genet
, vol.e1000220
, pp. 4
-
-
Andrew, T.1
Maniatis, N.2
Carbonaro, F.3
-
28
-
-
0041861039
-
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene
-
Go SL, Maugeri A, Mulder JJ, van Driel MA, Cremers FP, Hoyng CB. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. Invest Ophthalmol Vis Sci. 2003;44:4035-4043.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 4035-4043
-
-
Go, S.L.1
Maugeri, A.2
Mulder, J.J.3
van Driel, M.A.4
Cremers, F.P.5
Hoyng, C.B.6
-
29
-
-
33744932444
-
A mouse model for Stickler's syndrome: Ocular phenotype of mice carrying a targeted heterozygous inactivation of type II (pro)collagen gene (Col2a1)
-
Kaarniranta K, Ihanamaki T, Sahlman J, et al. A mouse model for Stickler's syndrome: ocular phenotype of mice carrying a targeted heterozygous inactivation of type II (pro)collagen gene (Col2a1). Exp Eye Res. 2006;83:297-303.
-
(2006)
Exp Eye Res
, vol.83
, pp. 297-303
-
-
Kaarniranta, K.1
Ihanamaki, T.2
Sahlman, J.3
-
30
-
-
0021722459
-
Characterization of collagen from normal human sclera
-
Keeley FW, Morin JD, Vesely S. Characterization of collagen from normal human sclera. Exp Eye Res. 1984;39:533-542.
-
(1984)
Exp Eye Res
, vol.39
, pp. 533-542
-
-
Keeley, F.W.1
Morin, J.D.2
Vesely, S.3
-
31
-
-
33745660391
-
Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE
-
Bowes RC, Ebright JN, Zavodni ZJ, et al. Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE. Invest Ophthalmol Vis Sci. 2006;47:2305-2316.
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 2305-2316
-
-
Bowes, R.C.1
Ebright, J.N.2
Zavodni, Z.J.3
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