-
1
-
-
0027173920
-
Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31
-
Sheffield, V.C., Stone, E.M., Alward, W.L., Drack, A.V., Johnson, A.T., Streb, L.M. and Nichols, B.E. (1993) Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat. Genet., 4, 47-50.
-
(1993)
Nat. Genet.
, vol.4
, pp. 47-50
-
-
Sheffield, V.C.1
Stone, E.M.2
Alward, W.L.3
Drack, A.V.4
Johnson, A.T.5
Streb, L.M.6
Nichols, B.E.7
-
2
-
-
0030586892
-
Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region
-
Stoilova, D., Child, A., Trifan, O.C., Crick, R.P., Coakes, R.L. and Sarfarazi, M. (1996) Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region. Genomics, 36, 142-150.
-
(1996)
Genomics
, vol.36
, pp. 142-150
-
-
Stoilova, D.1
Child, A.2
Trifan, O.C.3
Crick, R.P.4
Coakes, R.L.5
Sarfarazi, M.6
-
3
-
-
0031036668
-
Mapping a gene for adult.onset primary open-angle glaucoma to chromosome 3q
-
Wirtz, M.K., Samples, J.R., Kramer, P.L., Rust, K., Topinka, J.R., Yount, J., Koler, R.D. and Acott, T.S. (1997) Mapping a gene for adult.onset primary open-angle glaucoma to chromosome 3q. Am. J. Hum. Genet., 60, 296-304.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 296-304
-
-
Wirtz, M.K.1
Samples, J.R.2
Kramer, P.L.3
Rust, K.4
Topinka, J.R.5
Yount, J.6
Koler, R.D.7
Acott, T.S.8
-
4
-
-
0031851299
-
A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region
-
Trifan, O.C., Traboulsi, E.I., Stoilova, D., Alozie, I., Nguyen, R., Raja, S. and Sarfarazi, M. (1998) A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region. Am. J. Ophthalmol., 126, 17-28.
-
(1998)
Am. J. Ophthalmol.
, vol.126
, pp. 17-28
-
-
Trifan, O.C.1
Traboulsi, E.I.2
Stoilova, D.3
Alozie, I.4
Nguyen, R.5
Raja, S.6
Sarfarazi, M.7
-
5
-
-
0031970713
-
Localization of the fourth locus (GLC1E) for adult.onset primary open-angle glaucoma to the 10p15-p14 region
-
Sarfarazi, M., Child, A., Stoilova, D., Brice, G., Desai, T., Trifan, O.C., Poinoosawmy, D. and Crick, R.P. (1998) Localization of the fourth locus (GLC1E) for adult.onset primary open-angle glaucoma to the 10p15-p14 region. Am. J. Hum. Genet., 62, 641-652.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 641-652
-
-
Sarfarazi, M.1
Child, A.2
Stoilova, D.3
Brice, G.4
Desai, T.5
Trifan, O.C.6
Poinoosawmy, D.7
Crick, R.P.8
-
6
-
-
0033000146
-
GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36
-
Wirtz, M.K., Samples, J.R., Rust, K., Lie, J., Nordling, L., Schilling, K., Acott, T.S. and Kramer, P.L. (1999) GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. Arch. Ophthal., 117, 237-241.
-
(1999)
Arch. Ophthal.
, vol.117
, pp. 237-241
-
-
Wirtz, M.K.1
Samples, J.R.2
Rust, K.3
Lie, J.4
Nordling, L.5
Schilling, K.6
Acott, T.S.7
Kramer, P.L.8
-
7
-
-
17344368983
-
Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1
-
Stoilov, I., Akarsu, A.N., Alozie, I., Child, A., Barsoum-Homsy, M., Turacli, M.E., Or, M., Lewis, R.A., Ozdemir, N., Brice, G. et al. (1998) Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am. J. Hum. Genet., 62, 573-584.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 573-584
-
-
Stoilov, I.1
Akarsu, A.N.2
Alozie, I.3
Child, A.4
Barsoum-Homsy, M.5
Turacli, M.E.6
Or, M.7
Lewis, R.A.8
Ozdemir, N.9
Brice, G.10
-
8
-
-
0028264428
-
Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis
-
Eiberg, H., Kjer, B., Kjer, P. and Rosenberg, T. (1994) Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. Hum. Mol. Genet., 3, 977-980.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 977-980
-
-
Eiberg, H.1
Kjer, B.2
Kjer, P.3
Rosenberg, T.4
-
9
-
-
0036369531
-
OPA1 (Kjer type) dominant optic atrophy, a novel mitochondrial disease
-
Delettre, C., Lenaers, G., Pelloquin, L., Belenguer, P. and Hamel, C.P. (2002) OPA1 (Kjer type) dominant optic atrophy, a novel mitochondrial disease. Mol. Genet. Metab., 75, 97-107.
-
(2002)
Mol. Genet. Metab.
, vol.75
, pp. 97-107
-
-
Delettre, C.1
Lenaers, G.2
Pelloquin, L.3
Belenguer, P.4
Hamel, C.P.5
-
10
-
-
0036189783
-
Differential occurrence of mutations causative of eye diseases in the Chinese population
-
Pang, C.P., and Lam, D.S.C. (2002) Differential occurrence of mutations causative of eye diseases in the Chinese population. Hum. Mut., 19, 189-208.
-
(2002)
Hum. Mut.
, vol.19
, pp. 189-208
-
-
Pang, C.P.1
Lam, D.S.C.2
-
11
-
-
0029980777
-
Number of people with glaucoma worldwide
-
Quigley, H.A (1996) Number of people with glaucoma worldwide. Br. J. Ophthal., 80, 389-393.
-
(1996)
Br. J. Ophthal.
, vol.80
, pp. 389-393
-
-
Quigley, H.A.1
-
12
-
-
0012136865
-
How common is glaucoma worldwide?
-
Weinreb, R.N., Kitazawa, Y. and Krieglstein, G. (eds), Mosby International, London
-
Goldberg, I. (2000) How common is glaucoma worldwide? In Weinreb, R.N., Kitazawa, Y. and Krieglstein, G. (eds), Glaucoma in the 21st Century. Mosby International, London, pp. 3-8.
-
(2000)
Glaucoma in the 21st Century
, pp. 3-8
-
-
Goldberg, I.1
-
13
-
-
0000756925
-
The epidemiology of chronic open-angle glaucoma and ocular hypertension
-
Ritch, R., Shields, M.B. and Kruptin, T. (eds), Mosby-Year Book, St Louis, MO
-
Wilson, M.R., and Martone, J.F. (1996) The epidemiology of chronic open-angle glaucoma and ocular hypertension. In Ritch, R., Shields, M.B. and Kruptin, T. (eds), The Glaucomas. A Multi-volume Rqference. Mosby-Year Book, St Louis, MO, pp. 753-768.
-
(1996)
The Glaucomas. A Multi-volume Reference
, pp. 753-768
-
-
Wilson, M.R.1
Martone, J.F.2
-
14
-
-
0037547014
-
Primary open-angle glaucoma in blacks, a review
-
Racette, L., Wilson, M.R., Zangwill, L.M., Weinreb, R.N. and Sample, P.A. (2003) Primary open-angle glaucoma in blacks, a review. Surv. Ophthal., 48, 295-313.
-
(2003)
Surv. Ophthal.
, vol.48
, pp. 295-313
-
-
Racette, L.1
Wilson, M.R.2
Zangwill, L.M.3
Weinreb, R.N.4
Sample, P.A.5
-
15
-
-
0024440312
-
National survey of the prevalence and risk factors of glaucoma in St Lucia, West Indies. Part I. Prevalence findings
-
Mason, R.P., Kosoko, O., Wilson, M.R., Martone, J.F., Cowan, C.L Jr, Gear, J.C. and Ross-Degnan, D. (1989) National survey of the prevalence and risk factors of glaucoma in St Lucia, West Indies. Part I. Prevalence findings. Ophthalmology, 96, 1363-1368.
-
(1989)
Ophthalmology
, vol.96
, pp. 1363-1368
-
-
Mason, R.P.1
Kosoko, O.2
Wilson, M.R.3
Martone, J.F.4
Cowan Jr., C.L.5
Gear, J.C.6
Ross-Degnan, D.7
-
16
-
-
0344889215
-
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
-
Fingert, J.H., Heon, E., Liebmann, J.M., Yamamoto, T., Craig, J.E., Rait, J., Kawase, K., Hoh, S.T., Buys, Y.M., Dickinson, J. et al. (1999) Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum. Mol. Genet., 8, 899-905.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 899-905
-
-
Fingert, J.H.1
Heon, E.2
Liebmann, J.M.3
Yamamoto, T.4
Craig, J.E.5
Rait, J.6
Kawase, K.7
Hoh, S.T.8
Buys, Y.M.9
Dickinson, J.10
-
17
-
-
1842441140
-
Population at risk: Glaucoma with focus on populations in the Americas
-
Mader, N. (2003) Population at risk: Glaucoma with focus on populations in the Americas. Ocular Surg. News, 22, 70-74.
-
(2003)
Ocular Surg. News
, vol.22
, pp. 70-74
-
-
Mader, N.1
-
18
-
-
0037456771
-
Race and genomics
-
Cooper, R.S., Kaufman, J.S. and Ward, R. (2003) Race and genomics. New Engl. J. Med., 348, 1166-1170.
-
(2003)
New Engl. J. Med.
, vol.348
, pp. 1166-1170
-
-
Cooper, R.S.1
Kaufman, J.S.2
Ward, R.3
-
19
-
-
0037456729
-
Medicine and the racial divide
-
Phimister, E.G. (2003) Medicine and the racial divide. New Engl. J. Med., 348, 1081-1082.
-
(2003)
New Engl. J. Med.
, vol.348
, pp. 1081-1082
-
-
Phimister, E.G.1
-
20
-
-
0037456772
-
The importance of race and ethnic background in biomedical research and clinical practice
-
Burchard, E.G., Ziv, E., Coyle, N., Gomez, S.L., Tang, H., Karter, A.J., Mountain, J.L., Perez-Stable, E.J., Sheppard, D. and Risch, N. (2003) The importance of race and ethnic background in biomedical research and clinical practice. New Engl. J. Med., 348, 1170-1175.
-
(2003)
New Engl. J. Med.
, vol.348
, pp. 1170-1175
-
-
Burchard, E.G.1
Ziv, E.2
Coyle, N.3
Gomez, S.L.4
Tang, H.5
Karter, A.J.6
Mountain, J.L.7
Perez-Stable, E.J.8
Sheppard, D.9
Risch, N.10
-
21
-
-
0141651946
-
The use of 'race' for classification in medicine: Is it valid?
-
Wilson, M.R. (2003) The use of 'race' for classification in medicine: Is it valid? J. Glaucoma, 12, 293-294.
-
(2003)
J. Glaucoma
, vol.12
, pp. 293-294
-
-
Wilson, M.R.1
-
22
-
-
0036179423
-
Hypertension genetics, single nucleotide polymorphisms, and the common disease: Common variant hypothesis
-
Doris, P.A. (2002) Hypertension genetics, single nucleotide polymorphisms, and the common disease: common variant hypothesis. Hypertension, 39, 323-331.
-
(2002)
Hypertension
, vol.39
, pp. 323-331
-
-
Doris, P.A.1
-
23
-
-
0038523835
-
Allelic variants in the MYOC/TIGR gene in patients with primary open-angle, exfoliative glaucoma and unaffected controls
-
Jansson, M., Marknell, T., Tomic, L., Larsson, L.I. and Wadelius, C. (2003) Allelic variants in the MYOC/TIGR gene in patients with primary open-angle, exfoliative glaucoma and unaffected controls. Ophthal. Genet., 24, 103-110.
-
(2003)
Ophthal. Genet.
, vol.24
, pp. 103-110
-
-
Jansson, M.1
Marknell, T.2
Tomic, L.3
Larsson, L.I.4
Wadelius, C.5
-
24
-
-
18544373561
-
Founder TIGR/myocilin mutations for glaucoma in the Quebec population
-
Faucher, M., Anctil, J.L., Rodrigue, M.A., Duchesne, A., Bergeron, D., Blondeau, P., Cote, G., Dubois, S., Bergeron, J., Arseneault, R. et al. (2002) Founder TIGR/myocilin mutations for glaucoma in the Quebec population. Hum. Mol. Genet., 11, 2077-2790.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2077-2790
-
-
Faucher, M.1
Anctil, J.L.2
Rodrigue, M.A.3
Duchesne, A.4
Bergeron, D.5
Blondeau, P.6
Cote, G.7
Dubois, S.8
Bergeron, J.9
Arseneault, R.10
-
25
-
-
0037316171
-
Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin
-
Baird, P.N., Craig, J.E., Richardson, A.J., Ring, M.A., Sim, P., Stanwix, S., Foote, S.J. and Mackey, D.A (2003) Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin. Hum. Genet., 112, 110-116.
-
(2003)
Hum. Genet.
, vol.112
, pp. 110-116
-
-
Baird, P.N.1
Craig, J.E.2
Richardson, A.J.3
Ring, M.A.4
Sim, P.5
Stanwix, S.6
Foote, S.J.7
Mackey, D.A.8
-
26
-
-
0036784796
-
TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma
-
Pang, C.P., Leung, Y.F., Fan, B., Baum, L., Tong, W.C., Lee, W.S., Chua, J.K., Fan, D.S., Liu, Y. and Lam, D.S. (2002) TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma. Invest. Ophthal. Visual Sci., 43, 3231-3235.
-
(2002)
Invest. Ophthal. Visual Sci.
, vol.43
, pp. 3231-3235
-
-
Pang, C.P.1
Leung, Y.F.2
Fan, B.3
Baum, L.4
Tong, W.C.5
Lee, W.S.6
Chua, J.K.7
Fan, D.S.8
Liu, Y.9
Lam, D.S.10
-
27
-
-
0028090414
-
Genetic dissection of complex traits
-
Lander, E.S. and Schork, N.J. (1994) Genetic dissection of complex traits. Science, 265, 2037-2048.
-
(1994)
Science
, vol.265
, pp. 2037-2048
-
-
Lander, E.S.1
Schork, N.J.2
-
29
-
-
0037319360
-
The therapeutic potential of CXCR4 antagonists in the treatment of HIV
-
Fujii, N., Nakashima, H. and Tamamura, H. (2003) The therapeutic potential of CXCR4 antagonists in the treatment of HIV. Expert. Opin. Invest. Drugs, 12, 185-195.
-
(2003)
Expert. Opin. Invest. Drugs
, vol.12
, pp. 185-195
-
-
Fujii, N.1
Nakashima, H.2
Tamamura, H.3
-
30
-
-
0028062781
-
Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model
-
Gabriel, S.E., Brigman, K.N., Koller, B.H., Boucher, R.C. and Stutts, M.J. (1994) Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. Science, 266, 107-109.
-
(1994)
Science
, vol.266
, pp. 107-109
-
-
Gabriel, S.E.1
Brigman, K.N.2
Koller, B.H.3
Boucher, R.C.4
Stutts, M.J.5
-
31
-
-
0034891467
-
Do DF508 heterozygotes have a selective advantage?
-
Wiuf, C. (2001) Do DF508 heterozygotes have a selective advantage? Genet. Res., 78, 41-47.
-
(2001)
Genet. Res.
, vol.78
, pp. 41-47
-
-
Wiuf, C.1
-
32
-
-
0004949250
-
Abhandlungen aus dem Gebiete der Augenheilkunde
-
Freunde, Breslau, Poland
-
Benedict, T.W.G., (1842) Abhandlungen aus dem Gebiete der Augenheilkunde. Freunde, Breslau, Poland.
-
(1842)
-
-
Benedict, T.W.G.1
-
33
-
-
17944385621
-
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
-
Alward, W.L, Fingert, J.H., Coote, M.A., Johnson, A.T., Lerner, S.F., Junqua, D., Durcan, F.J., McCartney, P.J., Mackey, D.A., Sheffield, V.C. and Stone, E.M. (1998) Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). New Engl. J. Med., 338, 1022-1027.
-
(1998)
New Engl. J. Med.
, vol.338
, pp. 1022-1027
-
-
Alward, W.L.1
Fingert, J.H.2
Coote, M.A.3
Johnson, A.T.4
Lerner, S.F.5
Junqua, D.6
Durcan, F.J.7
McCartney, P.J.8
Mackey, D.A.9
Sheffield, V.C.10
Stone, E.M.11
-
34
-
-
0001555212
-
Hereditary primary glaucoma, a pedigree with five generations
-
Stokes, W.H. (1940) Hereditary primary glaucoma, a pedigree with five generations. Arch. Ophthal., 24, 885-909.
-
(1940)
Arch. Ophthal.
, vol.24
, pp. 885-909
-
-
Stokes, W.H.1
-
35
-
-
0027027335
-
Positive family history of glaucoma is a risk factor for increased IOP rather than glaucomatous optic nerve damage (POAG vs OH vs normal control)
-
Uhm, K.B. and Shin, D.H. (1992) Positive family history of glaucoma is a risk factor for increased IOP rather than glaucomatous optic nerve damage (POAG vs OH vs normal control). Korean. J. Ophthalmol., 6, 100-104.
-
(1992)
Korean J. Ophthalmol.
, vol.6
, pp. 100-104
-
-
Uhm, K.B.1
Shin, D.H.2
-
36
-
-
0033766065
-
The genetic aspects of adult-onset glaucoma, a perspective from the Greater Toronto area
-
Williams-Lyn, D., Flanagan, J., Buys, Y., Trope, G.E., Fingert, J., Stone, E.M. and Heon, E. (2000) The genetic aspects of adult-onset glaucoma, a perspective from the Greater Toronto area. Can. J. Ophthal., 35, 12-17.
-
(2000)
Can. J. Ophthal.
, vol.35
, pp. 12-17
-
-
Williams-Lyn, D.1
Flanagan, J.2
Buys, Y.3
Trope, G.E.4
Fingert, J.5
Stone, E.M.6
Heon, E.7
-
37
-
-
0023220448
-
A case-control study of risk factors in open angle glaucoma
-
Wilson, M.R., Hertzmark, E., Walker, A.M., Childs-Shaw, K., and Epstein, D.L. (1987) A case-control study of risk factors in open angle glaucoma. Arch. Ophthal., 105, 1066-1071.
-
(1987)
Arch. Ophthal.
, vol.105
, pp. 1066-1071
-
-
Wilson, M.R.1
Hertzmark, E.2
Walker, A.M.3
Childs-Shaw, K.4
Epstein, D.L.5
-
38
-
-
0025916983
-
Racial variations in the prevalence of primary open-angle glaucoma
-
The Baltimore Eye Survey
-
Tielsch, J.M., Sommer, A., Katz, J., Royall, R.M., Quigley, H.A. and Javitt, J. (1991) Racial variations in the prevalence of primary open-angle glaucoma. The Baltimore Eye Survey. JAMA 266, 369-367.
-
(1991)
JAMA
, vol.266
, pp. 367-369
-
-
Tielsch, J.M.1
Sommer, A.2
Katz, J.3
Royall, R.M.4
Quigley, H.A.5
Javitt, J.6
-
39
-
-
1642556821
-
Understanding the determinants of exceptional longevity
-
Perls, T. and Terry, D. (2003) Understanding the determinants of exceptional longevity. Ann. Intern. Med., 139, 445-449.
-
(2003)
Ann. Intern. Med.
, vol.139
, pp. 445-449
-
-
Perls, T.1
Terry, D.2
-
40
-
-
0036138175
-
A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait
-
Little, R.D., Carulli, J.P., Del Mastro, R.G., Dupuis, J., Osborne, M., Folz, C., Manning, S.P., Swain, P.M., Zhao, S.C., Eustace B et al. (2002) A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am. J. Hum. Genet., 70, 11-19.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 11-19
-
-
Little, R.D.1
Carulli, J.P.2
Del Mastro, R.G.3
Dupuis, J.4
Osborne, M.5
Folz, C.6
Manning, S.P.7
Swain, P.M.8
Zhao, S.C.9
Eustace, B.10
-
41
-
-
0029830587
-
Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes
-
Sunden, S.L., Alward, W.L., Nichols, B.E., Rokhlina, T.R., Nystuen, A., Stone, E.M. and Sheffield, V.C. (1996) Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes. Genome Res., 6, 862-869.
-
(1996)
Genome Res.
, vol.6
, pp. 862-869
-
-
Sunden, S.L.1
Alward, W.L.2
Nichols, B.E.3
Rokhlina, T.R.4
Nystuen, A.5
Stone, E.M.6
Sheffield, V.C.7
-
42
-
-
0027972492
-
Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome 1q
-
Richards, J.E., Lichter, P.R., Boehnke, M., Uro, J.L., Torrez, D., Wong, D. and Johnson, A.T (1994) Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome 1q. Am. J. Hum. Genet., 54, 62-70.
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 62-70
-
-
Richards, J.E.1
Lichter, P.R.2
Boehnke, M.3
Uro, J.L.4
Torrez, D.5
Wong, D.6
Johnson, A.T.7
-
43
-
-
0028292697
-
Linkage between juvenile glaucoma and chromosome 1q in 2 French families
-
Meyer, A., Valtot, F., Bechetoille, A., Rouland, J.F., Dascotte, J.C., Ferec, C., Bach, J.F., Chaventre, A. and Garchon, H.J. (1994) Linkage between juvenile glaucoma and chromosome 1q in 2 French families. C. R. Acad. Sci. III, 317, 565-570.
-
(1994)
C. R. Acad. Sci. III
, vol.317
, pp. 565-570
-
-
Meyer, A.1
Valtot, F.2
Bechetoille, A.3
Rouland, J.F.4
Dascotte, J.C.5
Ferec, C.6
Bach, J.F.7
Chaventre, A.8
Garchon, H.J.9
-
44
-
-
0028332417
-
Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees
-
Wiggs, J.L., Haines, J.L., Paglinauan, C., Fine, A., Sporn, C. and Lou, D (1994) Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees. Genomics, 21, 299-303.
-
(1994)
Genomics
, vol.21
, pp. 299-303
-
-
Wiggs, J.L.1
Haines, J.L.2
Paglinauan, C.3
Fine, A.4
Sporn, C.5
Lou, D.6
-
45
-
-
0029003117
-
A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q
-
Morissette, J., Cote, G., Anctil, J.L., Plante, M., Amyot, M., Heon, E., Trope, G.E., Weissenbach, J. and Raymond, V. (1995) A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q. Am. J. Hum. Genet., 56, 1431-1442.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1431-1442
-
-
Morissette, J.1
Cote, G.2
Anctil, J.L.3
Plante, M.4
Amyot, M.5
Heon, E.6
Trope, G.E.7
Weissenbach, J.8
Raymond, V.9
-
46
-
-
10544251845
-
Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family
-
Meyer, A., Bechetoille, A., Valtot, F., Dupont-de-Dinechin, S., Adam, M.F., Belmouden, A., Brezin, A.P., Gomez, L., Bach, J.F. and Garchon, H.J. (1996) Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family. Hum. Genet., 98, 567-571.
-
(1996)
Hum. Genet.
, vol.98
, pp. 567-571
-
-
Meyer, A.1
Bechetoille, A.2
Valtot, F.3
Dupont-de-Dinechin, S.4
Adam, M.F.5
Belmouden, A.6
Brezin, A.P.7
Gomez, L.8
Bach, J.F.9
Garchon, H.J.10
-
47
-
-
0031081371
-
Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23-q25
-
Belmouden, A., Adam, M.F., Dupont.de.Dinechin, S., Brezin, A.P., Rigault, P., Chumakov, I., Bach, J.F. and Garchon, H.J. (1997) Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23-q25. Genomics, 39, 348-358.
-
(1997)
Genomics
, vol.39
, pp. 348-358
-
-
Belmouden, A.1
Adam, M.F.2
Dupont de Dinechin, S.3
Brezin, A.P.4
Rigault, P.5
Chumakov, I.6
Bach, J.F.7
Garchon, H.J.8
-
48
-
-
14444283397
-
Identification of a gene that causes primary open angle glaucoma
-
Stone, E.M., Fingert, J.H., Alward, W.L., Nguyen, T.D., Polansky, J.R., Sunden, S.L., Nishimura, D., Clark, A.F., Nystuen, A., Nichols, B.E. et al. (1997) Identification of a gene that causes primary open angle glaucoma. Science, 275, 668-670.
-
(1997)
Science
, vol.275
, pp. 668-670
-
-
Stone, E.M.1
Fingert, J.H.2
Alward, W.L.3
Nguyen, T.D.4
Polansky, J.R.5
Sunden, S.L.6
Nishimura, D.7
Clark, A.F.8
Nystuen, A.9
Nichols, B.E.10
-
49
-
-
9844252339
-
Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open angle glaucoma
-
Adam, M.F., Belmouden, A., Binisti, P., Brezin, A.P., Valtot, F., Bechetoille, A., Dascotte, J.C., Copin, B., Gomez, L., Chaventre, A. et al. (1997) Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open angle glaucoma. Hum. Mol. Genet., 6, 2091-2097.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 2091-2097
-
-
Adam, M.F.1
Belmouden, A.2
Binisti, P.3
Brezin, A.P.4
Valtot, F.5
Bechetoille, A.6
Dascotte, J.C.7
Copin, B.8
Gomez, L.9
Chaventre, A.10
-
50
-
-
17144439117
-
Gln368Stop myocilin mutation in families with late-onset primary openangle glaucoma
-
Allingham, R.R., Wiggs, J.L., De La Paz, M.A., Vollrath, D., Tallett, D.A., Broomer, B., Jones, K.H., Del-Bono, E.A., Kern, J., Patterson, K. et al. (1998) Gln368Stop myocilin mutation in families with late-onset primary openangle glaucoma. Invest. Ophthal. Visual Sci., 39, 2288-2295.
-
(1998)
Invest. Ophthal. Visual Sci.
, vol.39
, pp. 2288-2295
-
-
Allingham, R.R.1
Wiggs, J.L.2
De La Paz, M.A.3
Vollrath, D.4
Tallett, D.A.5
Broomer, B.6
Jones, K.H.7
Del-Bono, E.A.8
Kern, J.9
Patterson, K.10
-
51
-
-
0031842677
-
A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia
-
Angius, A., De Gioia, E., Loi, A., Fossarello, M., Sole, G., Orzalesi, N., Grignolo, F., Cao, A. and Pirastu, M. (1998) A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia. Arch. Ophthal., 116, 793-797.
-
(1998)
Arch. Ophthal.
, vol.116
, pp. 793-797
-
-
Angius, A.1
De Gioia, E.2
Loi, A.3
Fossarello, M.4
Sole, G.5
Orzalesi, N.6
Grignolo, F.7
Cao, A.8
Pirastu, M.9
-
52
-
-
0032491148
-
GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein
-
Rozsa, F.W., Shimizu, S., Lichter, P.R., Johnson, A.T., Othman, M.I., Scott, K., Downs, C.A., Nguyen, T.D., Polansky, J. and Richards, J.E. (1998) GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein. Mol. Vis., 4, 20.
-
(1998)
Mol. Vis.
, vol.4
, pp. 20
-
-
Rozsa, F.W.1
Shimizu, S.2
Lichter, P.R.3
Johnson, A.T.4
Othman, M.I.5
Scott, K.6
Downs, C.A.7
Nguyen, T.D.8
Polansky, J.9
Richards, J.E.10
-
53
-
-
0031149050
-
A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor, molecular cloning, tissue expression, and chromosomal mapping
-
Kubota, R., Noda, S., Wang, Y., Minoshima, S., Asakawa, S., Kudoh, J., Mashima, Y., Oguchi, Y. and Shimizu, N. (1997) A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor, molecular cloning, tissue expression, and chromosomal mapping. Genomics, 41, 360-369.
-
(1997)
Genomics
, vol.41
, pp. 360-369
-
-
Kubota, R.1
Noda, S.2
Wang, Y.3
Minoshima, S.4
Asakawa, S.5
Kudoh, J.6
Mashima, Y.7
Oguchi, Y.8
Shimizu, N.9
-
54
-
-
0032513020
-
Gene structure and properties of TIGR, an olfactomedin related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells
-
Nguyen, T.D., Chen, P., Huang, W.D., Chen, H., Johnson, D. and Polansky, J.R. (1998) Gene structure and properties of TIGR, an olfactomedin related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells. J. Biol. Chem., 273, 6341-6350.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 6341-6350
-
-
Nguyen, T.D.1
Chen, P.2
Huang, W.D.3
Chen, H.4
Johnson, D.5
Polansky, J.R.6
-
55
-
-
0036868033
-
Myocilin glaucoma
-
Fingert, J.H., Stone, E.M., Sheffield, V.C. and Alward, W.L. (2002) Myocilin glaucoma. Surv. Ophthal., 47, 547-561.
-
(2002)
Surv. Ophthal.
, vol.47
, pp. 547-561
-
-
Fingert, J.H.1
Stone, E.M.2
Sheffield, V.C.3
Alward, W.L.4
-
56
-
-
0036976784
-
Mutations in MYOC gene of Indian primary open angle glaucoma patients
-
Mukhopadhyay, A., Acharya, M., Mukherjee, S., Ray, J., Choudhury, S., Khan, M. and Ray, K. (2002) Mutations in MYOC gene of Indian primary open angle glaucoma patients. Mol. Vision, 8, 442-428.
-
(2002)
Mol. Vision
, vol.8
, pp. 428-442
-
-
Mukhopadhyay, A.1
Acharya, M.2
Mukherjee, S.3
Ray, J.4
Choudhury, S.5
Khan, M.6
Ray, K.7
-
57
-
-
0036884922
-
Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients
-
Michels-Rautenstrauss, K., Mardin, C., Wakili, N., Junemann, A.M., Villalobos, L., Mejia, C., Soley, G.C., Azofeifa, J., Ozbey, S., Naumann, G.O. et al. (2002) Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients. Hum. Mutat., 20, 479-480.
-
(2002)
Hum. Mutat.
, vol.20
, pp. 479-480
-
-
Michels-Rautenstrauss, K.1
Mardin, C.2
Wakili, N.3
Junemann, A.M.4
Villalobos, L.5
Mejia, C.6
Soley, G.C.7
Azofeifa, J.8
Ozbey, S.9
Naumann, G.O.10
-
58
-
-
0033829572
-
Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma
-
Shimizu, S., Lichter, P.R., Johnson, A.T., Zhou, Z., Higashi, M., Gottfredsdottir, M., Othman, M., Moroi, S.E., Rozsa, F.W., Schertzer, R.M. et al. (2000) Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am. J. Ophthal., 130, 165-177.
-
(2000)
Am. J. Ophthal.
, vol.130
, pp. 165-177
-
-
Shimizu, S.1
Lichter, P.R.2
Johnson, A.T.3
Zhou, Z.4
Higashi, M.5
Gottfredsdottir, M.6
Othman, M.7
Moroi, S.E.8
Rozsa, F.W.9
Schertzer, R.M.10
-
59
-
-
0033899367
-
Mutations in the third exon of the MYOC gene in Spanish patients with primary open angle glaucoma
-
Vazquez, C.M., Herrero, O.M., Bastus, B.M. and Perez, V.D. (2000) Mutations in the third exon of the MYOC gene in Spanish patients with primary open angle glaucoma. Ophthal. Genet., 21, 109-115.
-
(2000)
Ophthal. Genet.
, vol.21
, pp. 109-115
-
-
Vazquez, C.M.1
Herrero, O.M.2
Bastus, B.M.3
Perez, V.D.4
-
60
-
-
0036157114
-
Digenic inheritance of early-onset glaucoma, CYP1B1, a potential modifier gene
-
Vincent, A.L., Billingsley, G., Buys, Y., Levin, A.V., Priston, M., Trope, G., Williams-Lyn, D. and Heon, E. (2002) Digenic inheritance of early-onset glaucoma, CYP1B1, a potential modifier gene. Am. J. Hum. Genet., 70, 448-460.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 448-460
-
-
Vincent, A.L.1
Billingsley, G.2
Buys, Y.3
Levin, A.V.4
Priston, M.5
Trope, G.6
Williams-Lyn, D.7
Heon, E.8
-
61
-
-
0036733041
-
Variations in the myocilin gene in patients with open-angle glaucoma
-
Alward, W.L., Kwon, Y.H., Khanna, C.L., Johnson, A.T., Hayreh, S.S., Zimmerman, M.B., Narkiewicz, J., Andorf, J.L., Moore, P.A., Fingert, J.H. et al. (2002) Variations in the myocilin gene in patients with open-angle glaucoma. Arch. Ophthal., 120, 1189-1197.
-
(2002)
Arch. Ophthal.
, vol.120
, pp. 1189-1197
-
-
Alward, W.L.1
Kwon, Y.H.2
Khanna, C.L.3
Johnson, A.T.4
Hayreh, S.S.5
Zimmerman, M.B.6
Narkiewicz, J.7
Andorf, J.L.8
Moore, P.A.9
Fingert, J.H.10
-
62
-
-
0035739029
-
MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland
-
Mataftsi, A., Achache, F., Heon, E., Mermoud, A., Cousin, P., Metthez, G., Schorderet, D.F. and Munier, F.L (2001) MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland. Ophthal. Genet., 22, 225-231.
-
(2001)
Ophthal. Genet.
, vol.22
, pp. 225-231
-
-
Mataftsi, A.1
Achache, F.2
Heon, E.3
Mermoud, A.4
Cousin, P.5
Metthez, G.6
Schorderet, D.F.7
Munier, F.L.8
-
63
-
-
0034056864
-
Novel mutation in the MYOC gene in primary open glaucoma patients
-
Vasconcellos, J.P., Melo, M.B., Costa, V.P., Tsukumo, D.M., Basseres, D.S., Bordin, S., Saad, S.T. and Costa, F.F. (2000) Novel mutation in the MYOC gene in primary open glaucoma patients. J. Med. Genet., 37, 301-303.
-
(2000)
J. Med. Genet.
, vol.37
, pp. 301-303
-
-
Vasconcellos, J.P.1
Melo, M.B.2
Costa, V.P.3
Tsukumo, D.M.4
Basseres, D.S.5
Bordin, S.6
Saad, S.T.7
Costa, F.F.8
-
64
-
-
0036956661
-
Myocilin mutations in a population-based sample of cases with open-angle glaucoma, the Rotterdam Study
-
Hulsman, C.A., De.Jong, P.T., Lettink, M., Van Duijn, C.M., Hofman, A. and Bergen, A.A. (2002) Myocilin mutations in a population-based sample of cases with open-angle glaucoma, the Rotterdam Study. Graefes. Arch. Clin. Exp. Ophthal., 240, 468-474.
-
(2002)
Graefes. Arch. Clin. Exp. Ophthal.
, vol.240
, pp. 468-474
-
-
Hulsman, C.A.1
De Jong, P.T.2
Lettink, M.3
Van Duijn, C.M.4
Hofman, A.5
Bergen, A.A.6
-
65
-
-
0038620208
-
A genome-wide scan for primary open-angle glaucoma (POAG), the Barbados Family Study of Open-Angle Glaucoma
-
Nemesure, B., Jiao, X., He, Q., Leske, M.C., Wu, S.Y., Hennis, A., Mendell, N., Redman, J., Garchon, H.J., Agarwala, R. et al. (2003) A genome-wide scan for primary open-angle glaucoma (POAG), the Barbados Family Study of Open-Angle Glaucoma. Hum. Genet, 112, 600-609.
-
(2003)
Hum. Genet.
, vol.112
, pp. 600-609
-
-
Nemesure, B.1
Jiao, X.2
He, Q.3
Leske, M.C.4
Wu, S.Y.5
Hennis, A.6
Mendell, N.7
Redman, J.8
Garchon, H.J.9
Agarwala, R.10
-
66
-
-
0036789452
-
Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa
-
Challa, P., Herndon, L.W., Hauser, M.A., Broomer, B.W., Pericak Vance, M.A., Ababio Danso, B. and Allingham, R.R (2002) Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. J. Glaucoma, 11, 416-420.
-
(2002)
J. Glaucoma
, vol.11
, pp. 416-420
-
-
Challa, P.1
Herndon, L.W.2
Hauser, M.A.3
Broomer, B.W.4
Pericak Vance, M.A.5
Ababio Danso, B.6
Allingham, R.R.7
-
67
-
-
0042205260
-
Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco
-
Melki, R., Idhajji, A., Driouiche, S., Hassani, M., Boukabboucha, A., Akhayat, O., Garchon, H. and Belmouden, A. (2003) Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco. Ophthal. Genet., 24, 153-160.
-
(2003)
Ophthal. Genet.
, vol.24
, pp. 153-160
-
-
Melki, R.1
Idhajji, A.2
Driouiche, S.3
Hassani, M.4
Boukabboucha, A.5
Akhayat, O.6
Garchon, H.7
Belmouden, A.8
-
68
-
-
0036208079
-
Investigation of the prevalence of the myocilin Q368STOP mutation in Ugandan glaucoma patients
-
Sale, M.M., FitzGerald, L.M., Kagame, K., Erdmann, I., Craig, J.E., Dickinson, J.L. and Cooper, R.L. (2002) Investigation of the prevalence of the myocilin Q368STOP mutation in Ugandan glaucoma patients. Ophthal. Genet., 23, 67-69.
-
(2002)
Ophthal. Genet.
, vol.23
, pp. 67-69
-
-
Sale, M.M.1
FitzGerald, L.M.2
Kagame, K.3
Erdmann, I.4
Craig, J.E.5
Dickinson, J.L.6
Cooper, R.L.7
-
69
-
-
18844478948
-
Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France
-
Brezin, A.P., Adam, M.F., Belmouden, A., Lureau, M.A., Chaventre, A., Copin, B., Gomez, L., De Dinechin, S.D., Berkani, M., Valtot, F. et al. (1998) Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France. Am. J. Med. Genet., 76, 438-445.
-
(1998)
Am. J. Med. Genet.
, vol.76
, pp. 438-445
-
-
Brezin, A.P.1
Adam, M.F.2
Belmouden, A.3
Lureau, M.A.4
Chaventre, A.5
Copin, B.6
Gomez, L.7
De Dinechin, S.D.8
Berkani, M.9
Valtot, F.10
-
70
-
-
0033358533
-
Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea
-
Yoon, S.J., Kim, H.S., Moon, J.I., Lim, J.M. and Joo, C.K. (1999) Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea. Am. J. Hum. Genet., 64, 1775-1778.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1775-1778
-
-
Yoon, S.J.1
Kim, H.S.2
Moon, J.I.3
Lim, J.M.4
Joo, C.K.5
-
71
-
-
0034266027
-
Novel mutations in the myocilin gene in Japanese glaucoma patients
-
Kubota, R., Mashima, Y., Ohtake, Y., Tanino, T., Kimura, T., Hotta, Y., Kanai, A., Tokuoka, S., Azuma, I., Tanihara, H. et al. (2000) Novel mutations in the myocilin gene in Japanese glaucoma patients. Hum. Mutat., 16, 270.
-
(2000)
Hum. Mutat.
, vol.16
, pp. 270
-
-
Kubota, R.1
Mashima, Y.2
Ohtake, Y.3
Tanino, T.4
Kimura, T.5
Hotta, Y.6
Kanai, A.7
Tokuoka, S.8
Azuma, I.9
Tanihara, H.10
-
72
-
-
0035044250
-
Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open-angle glaucoma
-
Mabuchi, F., Yamagata, Z., Kashiwagi, K., Tang, S., Iijima, H. and Tsukahara, S. (2001) Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open-angle glaucoma. Clin. Genet., 59, 263-268.
-
(2001)
Clin. Genet.
, vol.59
, pp. 263-268
-
-
Mabuchi, F.1
Yamagata, Z.2
Kashiwagi, K.3
Tang, S.4
Iijima, H.5
Tsukahara, S.6
-
73
-
-
0030778592
-
Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan
-
Suzuki, Y., Shirato, S., Taniguchi, F., Ohara, K., Nishimaki, K. and Ohta, S. (1997) Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan. Am. J. Hum. Genet., 61, 1202-1204.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 1202-1204
-
-
Suzuki, Y.1
Shirato, S.2
Taniguchi, F.3
Ohara, K.4
Nishimaki, K.5
Ohta, S.6
-
74
-
-
0141941737
-
Identification of a new GLC1A mutation in a sporadic, primary open-angle glaucoma in Japan
-
Ikezoe, T., Takeuchit, S., Komatsu, N., Okada, M., Fukushima, A., Ueno, H., Koeffler, H.P. and Taguchi, H. (2003) Identification of a new GLC1A mutation in a sporadic, primary open-angle glaucoma in Japan. Int. J. Mol. Med., 12, 259-261.
-
(2003)
Int. J. Mol. Med.
, vol.12
, pp. 259-261
-
-
Ikezoe, T.1
Takeuchit, S.2
Komatsu, N.3
Okada, M.4
Fukushima, A.5
Ueno, H.6
Koeffler, H.P.7
Taguchi, H.8
-
75
-
-
0032231625
-
Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma
-
Wiggs, J.L., Allingham, R.R., Vollrath, D., Jones, K.H., De La Paz, M., Kern, J., Patterson, K., Babb, V.L., Del Bono, E.A., Broomer, B.W. et al. (1998) Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am. J. Hum. Genet., 63, 1549-1552.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1549-1552
-
-
Wiggs, J.L.1
Allingham, R.R.2
Vollrath, D.3
Jones, K.H.4
De La Paz, M.5
Kern, J.6
Patterson, K.7
Babb, V.L.8
Del Bono, E.A.9
Broomer, B.W.10
-
76
-
-
0037587689
-
Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma
-
Bruttini, M., Longo, I., Frezzotti, P., Ciappetta, R., Randazzo, A., Orzalesi, N., Fumagalli, E., Caporossi, A., Frezzotti, R. and Renieri, A. (2003) Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma. Arch. Ophthal., 121, 1034-1038.
-
(2003)
Arch. Ophthal.
, vol.121
, pp. 1034-1038
-
-
Bruttini, M.1
Longo, I.2
Frezzotti, P.3
Ciappetta, R.4
Randazzo, A.5
Orzalesi, N.6
Fumagalli, E.7
Caporossi, A.8
Frezzotti, R.9
Renieri, A.10
-
77
-
-
0031310603
-
TIGR gene in primary open-angle glaucoma and steroid-induced glaucoma
-
Kee, C. and Ahn, B.H., (1997) TIGR gene in primary open-angle glaucoma and steroid-induced glaucoma. Korean J. Ophthal., 11, 75-78.
-
(1997)
Korean J. Ophthal.
, vol.11
, pp. 75-78
-
-
Kee, C.1
Ahn, B.H.2
-
78
-
-
1842493344
-
Two families with glaucoma associated with myocilin gene mutations
-
Takahashi, H., Ohtake, Y., Kubota, R., Kimura, I., Miyata, H., Miyata, K., Tanino, T. and Mashima, Y. (2002) Two families with glaucoma associated with myocilin gene mutations. Jpn. J. Ophthal., 46, 597.
-
(2002)
Jpn. J. Ophthal.
, vol.46
, pp. 597
-
-
Takahashi, H.1
Ohtake, Y.2
Kubota, R.3
Kimura, I.4
Miyata, H.5
Miyata, K.6
Tanino, T.7
Mashima, Y.8
-
79
-
-
0031765882
-
A novel Asp380A1a mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma
-
Kennan, A.M., Mansergh, F.C., Fingert, J.H., Clark, T., Ayuso, C., Kenna, P.F., Humphries, P. and Farrar, G.J. (1998) A novel Asp380A1a mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma. J. Med. Genet., 35, 957-960.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 957-960
-
-
Kennan, A.M.1
Mansergh, F.C.2
Fingert, J.H.3
Clark, T.4
Ayuso, C.5
Kenna, P.F.6
Humphries, P.7
Farrar, G.J.8
-
80
-
-
17344372403
-
Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma
-
Stoilova, D., Child, A., Brice, G., Desai, T., Barsoum Homsy, M., Ozdemir, N., Chevrette, L., Adam, M.F., Garchon, H.J., Pitts Crick, R. and Sarfarazi, M. (1998) Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma. J. Med. Genet., 35, 989-992.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 989-992
-
-
Stoilova, D.1
Child, A.2
Brice, G.3
Desai, T.4
Barsoum Homsy, M.5
Ozdemir, N.6
Chevrette, L.7
Adam, M.F.8
Garchon, H.J.9
Pitts Crick, R.10
Sarfarazi, M.11
-
81
-
-
0032906337
-
Detection of a new TIGR gene mutation in a Japanese family with primary open angle glaucoma
-
Yokoyama, A., Nao-i, N., Date, Y., Nakazato, M., Chumann, H., Chihara, E., Sawada, A. and Matsukura, S. (1999) Detection of a new TIGR gene mutation in a Japanese family with primary open angle glaucoma. Jpn. J. Ophthal., 43, 85-88.
-
(1999)
Jpn. J. Ophthal.
, vol.43
, pp. 85-88
-
-
Yokoyama, A.1
Nao-i, N.2
Date, Y.3
Nakazato, M.4
Chumann, H.5
Chihara, E.6
Sawada, A.7
Matsukura, S.8
-
82
-
-
19244382595
-
Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma
-
Angius, A., Spinelli, P., Ghilotti, G., Casu, G., Sole, G., Loi, A., Totaro, A., Zelante, L., Gasparini, P., Orzalesi, N., Pirastu, M. and Bonomi, L. (2000) Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma. Arch. Ophthal., 118, 674-679.
-
(2000)
Arch. Ophthal.
, vol.118
, pp. 674-679
-
-
Angius, A.1
Spinelli, P.2
Ghilotti, G.3
Casu, G.4
Sole, G.5
Loi, A.6
Totaro, A.7
Zelante, L.8
Gasparini, P.9
Orzalesi, N.10
Pirastu, M.11
Bonomi, L.12
-
83
-
-
0034868797
-
Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier
-
Craig, J.E., Baird, P.N., Healey, D.L., McNaught, A.I., McCartney, P.J., Rait, J.L., Dickinson, J.L., Roe, L., Fingert, J.H., Stone, E.M. and Mackey, D.A. (2001) Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. Ophthalmology, 108, 1607-1620.
-
(2001)
Ophthalmology
, vol.108
, pp. 1607-1620
-
-
Craig, J.E.1
Baird, P.N.2
Healey, D.L.3
McNaught, A.I.4
McCartney, P.J.5
Rait, J.L.6
Dickinson, J.L.7
Roe, L.8
Fingert, J.H.9
Stone, E.M.10
Mackey, D.A.11
-
84
-
-
0029667388
-
Global patterns of linkage disequilibrium at the CD4 locus and modern human origins
-
Tishkoff, S.A., Dietzsch, E., Speed, W., Pakstis, A.J., Kidd, J.R., Cheung, K., Bonne-Tamir, B., Santachiara-Benerecetti, A.S., Moral, P. and Krings, M. (1996) Global patterns of linkage disequilibrium at the CD4 locus and modern human origins. Science, 271, 1380-1387.
-
(1996)
Science
, vol.271
, pp. 1380-1387
-
-
Tishkoff, S.A.1
Dietzsch, E.2
Speed, W.3
Pakstis, A.J.4
Kidd, J.R.5
Cheung, K.6
Bonne-Tamir, B.7
Santachiara-Benerecetti, A.S.8
Moral, P.9
Krings, M.10
-
85
-
-
0038113195
-
Human evolution: Out of Ethiopia
-
Stringer, C. (2003) Human evolution: Out of Ethiopia. Nature, 423, 692-695.
-
(2003)
Nature
, vol.423
, pp. 692-695
-
-
Stringer, C.1
-
86
-
-
0033180294
-
Coalescing into the 21st century: An overview and prospects of coalescent theory
-
Fu, Y.-X., Li, W.-H. (1999) Coalescing into the 21st century: an overview and prospects of coalescent theory. Theor. Popul. Biol., 56, 1-10.
-
(1999)
Theor. Popul. Biol.
, vol.56
, pp. 1-10
-
-
Fu, Y.-X.1
Li, W.-H.2
-
87
-
-
0033912677
-
Significant admixture linkage disequilibrium across 30 cM around the FY Locus in African Americans
-
Lautenberger, J.A., Stephens, J.C., O'Brien, S.J. and Smith, M.W. (2000) Significant admixture linkage disequilibrium across 30 cM around the FY Locus in African Americans. Am. J. Hum. Genet., 66, 969-978.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 969-978
-
-
Lautenberger, J.A.1
Stephens, J.C.2
O'Brien, S.J.3
Smith, M.W.4
-
90
-
-
0033799573
-
Apolipoprotein E variation at the sequence haplotype level: Implications for the origin and maintenance of a major human polymorphism
-
Fullerton, S.M., Clark, A.G., Weiss, K.M., Nickerson, D.A., Taylor, S.L., Stengard, J.H., Salomaa, V., Vartiainen, E., Perola, M., Boerwinkle, E. and Sing, C.F. (2000) Apolipoprotein E variation at the sequence haplotype level: Implications for the origin and maintenance of a major human polymorphism. Am. J. Hum. Genet., 67, 881-900.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 881-900
-
-
Fullerton, S.M.1
Clark, A.G.2
Weiss, K.M.3
Nickerson, D.A.4
Taylor, S.L.5
Stengard, J.H.6
Salomaa, V.7
Vartiainen, E.8
Perola, M.9
Boerwinkle, E.10
Sing, C.F.11
-
91
-
-
0034020149
-
Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma
-
Lam, D.S., Leung, Y.F., Chua, J.K., Baum, L., Fan, D.S., Choy, K.W. and Pang, C.P. (2000) Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma. Invest. Ophthal. Visual Sci., 41, 1386-1391.
-
(2000)
Invest. Ophthal. Visual Sci.
, vol.41
, pp. 1386-1391
-
-
Lam, D.S.1
Leung, Y.F.2
Chua, J.K.3
Baum, L.4
Fan, D.S.5
Choy, K.W.6
Pang, C.P.7
-
92
-
-
0042563065
-
Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation
-
Mackey, D.A., Healey, D.L., Fingert, J.H., Coote, M.A., Wong, T.L., Wilkinson, C.H., McCartney, P.J., Rait, J.L., de.Graaf, A.P., Stone, E.M. and Craig, J.E. (2003) Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation. Arch. Ophthal., 121, 1172-1180.
-
(2003)
Arch. Ophthal.
, vol.121
, pp. 1172-1180
-
-
Mackey, D.A.1
Healey, D.L.2
Fingert, J.H.3
Coote, M.A.4
Wong, T.L.5
Wilkinson, C.H.6
McCartney, P.J.7
Rait, J.L.8
de Graaf, A.P.9
Stone, E.M.10
Craig, J.E.11
-
93
-
-
0345146919
-
Penetrance and phenotype of the Cys433Arg myocilin mutation in a family pedigree with primary open-angle glaucoma
-
de Vasconcellos, J.P., de Melo, M.B., Schimiti, R., Costa, F.F. and Costa, V.P. (2003) Penetrance and phenotype of the Cys433Arg myocilin mutation in a family pedigree with primary open-angle glaucoma. J. Glaucoma, 12, 104-107.
-
(2003)
J. Glaucoma
, vol.12
, pp. 104-107
-
-
de Vasconcellos, J.P.1
de Melo, M.B.2
Schimiti, R.3
Costa, F.F.4
Costa, V.P.5
-
94
-
-
0031979443
-
Significance levels in complex inheritance
-
Morton, N.E. (1998) Significance levels in complex inheritance. Am. J. Hum. Genet., 62, 690-697.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 690-697
-
-
Morton, N.E.1
-
95
-
-
0036094912
-
Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene
-
Copin, B., Brezin, A.P., Valtot, F., Dascotte, J.C., Bechetoille, A. and Garchon, H.J. (2002) Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene. Am. J. Hum. Genet., 70, 1575-1581.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 1575-1581
-
-
Copin, B.1
Brezin, A.P.2
Valtot, F.3
Dascotte, J.C.4
Bechetoille, A.5
Garchon, H.J.6
-
96
-
-
0003550725
-
-
Oxford University Press, New York
-
Khoury, M.J., Beaty, T.H., and Cohen, B.H. (1993) Fundamentals of Genetic Epidemiology. Oxford University Press, New York.
-
(1993)
Fundamentals of Genetic Epidemiology
-
-
Khoury, M.J.1
Beaty, T.H.2
Cohen, B.H.3
-
97
-
-
0033069520
-
The puzzle of hypertension in African-Americans
-
Cooper, R.S., Rotimi, C.N. and Ward, R. (1999) The puzzle of hypertension in African-Americans. Sci. Am., 280, 56-63.
-
(1999)
Sci. Am.
, vol.280
, pp. 56-63
-
-
Cooper, R.S.1
Rotimi, C.N.2
Ward, R.3
-
98
-
-
0037312726
-
Temba glaucoma study: A population-based cross-sectional survey in urban South Africa
-
Rotchford. A.P., Kirwan, J.F., Muller, M.A., Johnson, G.J. and Roux, P. (2003) Temba glaucoma study: A population-based cross-sectional survey in urban South Africa. Ophthalmology, 110, 376-382.
-
(2003)
Ophthalmology
, vol.110
, pp. 376-382
-
-
Rotchford, A.P.1
Kirwan, J.F.2
Muller, M.A.3
Johnson, G.J.4
Roux, P.5
-
99
-
-
0033833318
-
Promoter mutations of myocilin gene in Japanese patients with open angle glaucoma including normal tension glaucoma
-
Suzuki, R., Hattori, Y. and Okano, K. (2000) Promoter mutations of myocilin gene in Japanese patients with open angle glaucoma including normal tension glaucoma. Br. J. Ophthal., 84, 1078.
-
(2000)
Br. J. Ophthal.
, vol.84
, pp. 1078
-
-
Suzuki, R.1
Hattori, Y.2
Okano, K.3
-
100
-
-
0034769119
-
Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma
-
Colomb, E., Nguyen, T.D., Bechetoille, A., Dascotte, J.C., Valtot, F., Brezin, A.P., Berkani, M., Copin, B., Gomez, L., Polansky, J.R. and Garchon, H.J. (2001) Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma. Clin. Genet., 60, 220-225.
-
(2001)
Clin. Genet.
, vol.60
, pp. 220-225
-
-
Colomb, E.1
Nguyen, T.D.2
Bechetoille, A.3
Dascotte, J.C.4
Valtot, F.5
Brezin, A.P.6
Berkani, M.7
Copin, B.8
Gomez, L.9
Polansky, J.R.10
Garchon, H.J.11
-
101
-
-
0042131698
-
Association of the myocilin mt.1 promoter variant with the worsening of glaucomatous disease over time
-
Polansky, J.R., Juster, R.P. and Spaeth, G.L (2003) Association of the myocilin mt.1 promoter variant with the worsening of glaucomatous disease over time. Clin. Genet., 64, 18-27.
-
(2003)
Clin. Genet.
, vol.64
, pp. 18-27
-
-
Polansky, J.R.1
Juster, R.P.2
Spaeth, G.L.3
-
102
-
-
0037309937
-
The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms
-
Aung, T., Okada, K., Poinoosawmy, D., Membrey, L., Brice, G., Child, A.H., Bhattacharya, S.S., Lehmann, O.J., Garway-Heath, D.F. and Hitchings, R.A. (2003) The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms. Br. J. Ophthal., 87, 149-152.
-
(2003)
Br. J. Ophthal.
, vol.87
, pp. 149-152
-
-
Aung, T.1
Okada, K.2
Poinoosawmy, D.3
Membrey, L.4
Brice, G.5
Child, A.H.6
Bhattacharya, S.S.7
Lehmann, O.J.8
Garway-Heath, D.F.9
Hitchings, R.A.10
-
103
-
-
0037078222
-
The apolipoprotein E4 gene is associated with elevated risk of normal tension glaucoma
-
Vickers, J.C., Craig, J.E., Stankovich, J., McCormack, G.H., West, A.K., Dickinson, J.L., McCartney, P.J., Coote, M.A., Healey, D.L. and Mackey, D.A. (2002) The apolipoprotein E4 gene is associated with elevated risk of normal tension glaucoma. Mol. Vision, 8, 399-393.
-
(2002)
Mol. Vision
, vol.8
, pp. 389-393
-
-
Vickers, J.C.1
Craig, J.E.2
Stankovich, J.3
McCormack, G.H.4
West, A.K.5
Dickinson, J.L.6
McCartney, P.J.7
Coote, M.A.8
Healey, D.L.9
Mackey, D.A.10
-
104
-
-
0037256477
-
Association of tumour necrosis factor alpha -308 gene polymorphism with primary open-angle glaucoma in Chinese
-
Lin, H.J., Tsai, F.J., Chen, W.C., Shi, Y.R., Hsu, Y. and Tsai, S.W. (2003) Association of tumour necrosis factor alpha -308 gene polymorphism with primary open-angle glaucoma in Chinese. Eye, 17, 31-44.
-
(2003)
Eye
, vol.17
, pp. 31-44
-
-
Lin, H.J.1
Tsai, F.J.2
Chen, W.C.3
Shi, Y.R.4
Hsu, Y.5
Tsai, S.W.6
-
105
-
-
0030583153
-
The atrial natriuretic peptide gene in patients with familial primary open-angle glaucoma
-
Tunny, T.J., Richardson, K.A., Clark, C.V., Gordon, R.D. (1996) The atrial natriuretic peptide gene in patients with familial primary open-angle glaucoma. Biochem. Biophys. Res. Commun., 223, 221-225.
-
(1996)
Biochem. Biophys. Res. Commun.
, vol.223
, pp. 221-225
-
-
Tunny, T.J.1
Richardson, K.A.2
Clark, C.V.3
Gordon, R.D.4
-
106
-
-
0033044133
-
The association of bone mineral density with vitamin D receptor gene polymorphisms
-
Gong, G., Stern, H.S., Cheng, S.-C., Fong, N., Mordeson, J., Deng, H.-W. and Recker, R.R. (1999) The association of bone mineral density with vitamin D receptor gene polymorphisms. Osteoporosis Int., 9, 55-64.
-
(1999)
Osteoporosis Int.
, vol.9
, pp. 55-64
-
-
Gong, G.1
Stern, H.S.2
Cheng, S.-C.3
Fong, N.4
Mordeson, J.5
Deng, H.-W.6
Recker, R.R.7
-
107
-
-
0033574070
-
Allelic association between marker loci
-
Lonjou, C., Collins, A. and Morton, N.E. (1999) Allelic association between marker loci. Proc. Natl Acad. Sci. USA, 96, 1621-1626.
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 1621-1626
-
-
Lonjou, C.1
Collins, A.2
Morton, N.E.3
-
108
-
-
1842545469
-
Editorial policies and practices
-
Anonymous www.jci.org/misc/jcipoli.pdf
-
Anonymous Editorial policies and practices. J. Clin. Invest.; www.jci.org/misc/jcipoli.pdf
-
J. Clin. Invest.
-
-
-
109
-
-
0036065699
-
SNP judgments and freedom of association
-
Hegele, R.A. (2002) SNP judgments and freedom of association. Arterioscler. Thromb. Vasc. Biol., 22, 1058-1061.
-
(2002)
Arterioscler. Thromb. Vasc. Biol.
, vol.22
, pp. 1058-1061
-
-
Hegele, R.A.1
-
110
-
-
0030823158
-
Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis
-
Farrer, L.A., Cupples, L.A., Haines, J.L., Hyman, B., Kukull, W.A., Mayeux, R., Myers, R.H., Pericak-Vance, M.A., Risch, N., and van Duijn, C.M. (1997) Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. JAMA, 278, 1349-1356.
-
(1997)
JAMA
, vol.278
, pp. 1349-1356
-
-
Farrer, L.A.1
Cupples, L.A.2
Haines, J.L.3
Hyman, B.4
Kukull, W.A.5
Mayeux, R.6
Myers, R.H.7
Pericak-Vance, M.A.8
Risch, N.9
van Duijn, C.M.10
-
111
-
-
0032803572
-
Thalassemia and malaria: New insights into an old problem
-
Clegg, J.B. and Weatherall, D.J (1999) Thalassemia and malaria: New insights into an old problem. Proc. Assoc. Am. Physicians, 111, 278-282.
-
(1999)
Proc. Assoc. Am. Physicians
, vol.111
, pp. 278-282
-
-
Clegg, J.B.1
Weatherall, D.J.2
-
112
-
-
0033992497
-
Positional cloning of disease genes: Advantages of genetic isolates
-
Peltonen, L. (2000) Positional cloning of disease genes: advantages of genetic isolates. Hum. Hered., 50, 66-75.
-
(2000)
Hum. Hered.
, vol.50
, pp. 66-75
-
-
Peltonen, L.1
-
113
-
-
0023903542
-
Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq
-
Saviranta, P., Lindlof, M., Lehesjoki, A.E., Kalimo, H., Lang, H., Sonninen, V., Savontaus, M.L. and de la Chapelle, A. (1988) Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq. Am. J. Hum. Genet., 42, 84-88.
-
(1988)
Am. J. Hum. Genet.
, vol.42
, pp. 84-88
-
-
Saviranta, P.1
Lindlof, M.2
Lehesjoki, A.E.3
Kalimo, H.4
Lang, H.5
Sonninen, V.6
Savontaus, M.L.7
de la Chapelle, A.8
-
114
-
-
0036556373
-
Genetics of population isolates
-
Arcos-Burgos, M. and Muenke, M. (2002) Genetics of population isolates. Clin. Genet., 61, 233-247.
-
(2002)
Clin. Genet.
, vol.61
, pp. 233-247
-
-
Arcos-Burgos, M.1
Muenke, M.2
-
115
-
-
0037718412
-
Endogamy, consanguinity and community genetics
-
Bittles, A.H. (2002) Endogamy, consanguinity and community genetics. J. Genet., 81, 91-98.
-
(2002)
J. Genet.
, vol.81
, pp. 91-98
-
-
Bittles, A.H.1
-
116
-
-
0029805706
-
The new genomics: Global views of biology
-
Lander, E.S. (1996) The new genomics: Global views of biology. Science, 274, 536-539.
-
(1996)
Science
, vol.274
, pp. 536-539
-
-
Lander, E.S.1
-
117
-
-
84984932946
-
Population genetics - Making sense out of sequence
-
Chakravarti, A. (1999) Population genetics - making sense out of sequence. Nat. Genet., 21, 56-60.
-
(1999)
Nat. Genet.
, vol.21
, pp. 56-60
-
-
Chakravarti, A.1
-
118
-
-
15144359446
-
Genetic structure of the ancestral population of modern humans
-
Zietkiewicz, E., Yotova, V., Jarnik, M., Korab-Laskowska, M., Kidd, K.K., Modiano, D., Scozzari, R., Stoneking, M., Tishkoff, S., Batzer, M. and Labuda, D. (1998) Genetic structure of the ancestral population of modern humans. J. Mol. Evol., 47, 146-155.
-
(1998)
J. Mol. Evol.
, vol.47
, pp. 146-155
-
-
Zietkiewicz, E.1
Yotova, V.2
Jarnik, M.3
Korab-Laskowska, M.4
Kidd, K.K.5
Modiano, D.6
Scozzari, R.7
Stoneking, M.8
Tishkoff, S.9
Batzer, M.10
Labuda, D.11
-
119
-
-
0032539701
-
Genetic traces of ancient demography
-
Harpending, H.C., Batzer, M.A., Gurven, M., Jorde, L.B., Rogers, A.R. and Sherry, S.T. (1998) Genetic traces of ancient demography. Proc. Natl Acad. Sci. USA, 95, 1961-1967.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 1961-1967
-
-
Harpending, H.C.1
Batzer, M.A.2
Gurven, M.3
Jorde, L.B.4
Rogers, A.R.5
Sherry, S.T.6
-
120
-
-
0034969437
-
Are rare variants responsible for susceptibility to complex diseases?
-
Pritchard, J.K. (2001) Are rare variants responsible for susceptibility to complex diseases? Am. J. Hum. Genet., 69, 124-123.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 123-124
-
-
Pritchard, J.K.1
-
121
-
-
0043246502
-
Association between bone mineral density and candidate genes in different ethnic populations and its implications
-
Gong, G. and Haynatzki, G. (2003) Association between bone mineral density and candidate genes in different ethnic populations and its implications. Calcif. Tissue Int., 72, 113-123.
-
(2003)
Calcif. Tissue Int.
, vol.72
, pp. 113-123
-
-
Gong, G.1
Haynatzki, G.2
-
122
-
-
0036687639
-
Fine mapping of susceptibility genes by Lewontin's linkage disequilibrium measure with application to Alzheimer's disease
-
Gong, G., Haynatzki, G., Deng, H.-W., Recker, R.R., Mordeson, J., Cheng, S.-C., Fong, N. (2002) Fine mapping of susceptibility genes by Lewontin's linkage disequilibrium measure with application to Alzheimer's disease. Chin. Med. J., 115, 1233-1240.
-
(2002)
Chin. Med. J.
, vol.115
, pp. 1233-1240
-
-
Gong, G.1
Haynatzki, G.2
Deng, H.-W.3
Recker, R.R.4
Mordeson, J.5
Cheng, S.-C.6
Fong, N.7
-
123
-
-
0026660656
-
There is more than one way to collect data for linkage analysis: What a study of epilepsy can tell us about linkage strategy for psychiatric diseases
-
Greenberg, D.A. (1992) There is more than one way to collect data for linkage analysis: What a study of epilepsy can tell us about linkage strategy for psychiatric diseases. Arch. Gen. Psychiat., 49, 745-750.
-
(1992)
Arch. Gen. Psychiat.
, vol.49
, pp. 745-750
-
-
Greenberg, D.A.1
-
124
-
-
0029041041
-
The genetics of idiopathic generalized epilepsies of adolescent onset: Differences between juvenile myoclonic epilepsy and epilepsy with random grand mal and with awakening grand mal
-
Greengurg, D.A., Durner, M., Resor, S., Rosenbaum, D. and Shinnar, S. (1995) The genetics of idiopathic generalized epilepsies of adolescent onset: Differences between juvenile myoclonic epilepsy and epilepsy with random grand mal and with awakening grand mal. Neurology, 45, 942-946.
-
(1995)
Neurology
, vol.45
, pp. 942-946
-
-
Greengurg, D.A.1
Durner, M.2
Resor, S.3
Rosenbaum, D.4
Shinnar, S.5
-
125
-
-
0030586892
-
Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region
-
Stoilova, D., Child, A., Trifan, O.C., Crick, R.P., Coakes, R.L. and Sarfarazi, M. (1996) Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region. Genomics, 36, 142-150.
-
(1996)
Genomics
, vol.36
, pp. 142-150
-
-
Stoilova, D.1
Child, A.2
Trifan, O.C.3
Crick, R.P.4
Coakes, R.L.5
Sarfarazi, M.6
-
126
-
-
0028143234
-
Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man
-
Smith, E.P., Boyd, J., Frank, G.R., Takahashi, H., Cohen, R.M., Specker, B., Williams, T.C., Lubahn, D.B. and Korach, K.S. (1994) Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. New Engl. J. Med., 331, 1056-1061.
-
(1994)
New Engl. J. Med.
, vol.331
, pp. 1056-1061
-
-
Smith, E.P.1
Boyd, J.2
Frank, G.R.3
Takahashi, H.4
Cohen, R.M.5
Specker, B.6
Williams, T.C.7
Lubahn, D.B.8
Korach, K.S.9
-
127
-
-
0031824572
-
Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma
-
Morissette, J., Clepet, C., Moisan, S., Dubois, S., Winstall, E., Vermeeren, D., Nguyen, T.D., Polansky, J.R., Cote, G., Anctil, J.L. et al. (1998) Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Nat. Genet., 19, 319-321.
-
(1998)
Nat. Genet.
, vol.19
, pp. 319-321
-
-
Morissette, J.1
Clepet, C.2
Moisan, S.3
Dubois, S.4
Winstall, E.5
Vermeeren, D.6
Nguyen, T.D.7
Polansky, J.R.8
Cote, G.9
Anctil, J.L.10
-
128
-
-
0034761709
-
Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC
-
Wiggs, J.L. and Vollrath, D (2001) Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC. Arch. Ophthal., 119, 1674-1678.
-
(2001)
Arch. Ophthal.
, vol.119
, pp. 1674-1678
-
-
Wiggs, J.L.1
Vollrath, D.2
-
129
-
-
0034780081
-
Targeted disruption of the myocilin gene (Myoc) suggests that human glaucoma-causing mutations are gain of function
-
Kim, B.S., Savinova, O.V., Reedy, M.V., Martin, J., Lun, Y., Gan, L., Smith, R.S., Tomarev, S.I., John, S.W. and Johnson, R.L. (2001) Targeted disruption of the myocilin gene (Myoc) suggests that human glaucoma-causing mutations are gain of function. Mol. Cell. Biol., 21, 7707-7713.
-
(2001)
Mol. Cell. Biol.
, vol.21
, pp. 7707-7713
-
-
Kim, B.S.1
Savinova, O.V.2
Reedy, M.V.3
Martin, J.4
Lun, Y.5
Gan, L.6
Smith, R.S.7
Tomarev, S.I.8
John, S.W.9
Johnson, R.L.10
-
130
-
-
0035862866
-
Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor
-
Jacobson, N., Andrews, M., Shepard, A.R., Nishimura, D., Searby, C., Fingert, J.H., Hageman, G., Mullins, R., Davidson, B.L., Kwon, Y.H. et al. (2001) Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum. Mol. Genet., 10, 117-125.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 117-125
-
-
Jacobson, N.1
Andrews, M.2
Shepard, A.R.3
Nishimura, D.4
Searby, C.5
Fingert, J.H.6
Hageman, G.7
Mullins, R.8
Davidson, B.L.9
Kwon, Y.H.10
-
131
-
-
0036139638
-
Protein interactions with myocilin
-
Wentz-Hunter, K., Ueda, J. and Yue, B.Y. (2002) Protein interactions with myocilin. Invest. Ophthal. Visual Sci., 43, 176-182.
-
(2002)
Invest. Ophthal. Visual Sci.
, vol.43
, pp. 176-182
-
-
Wentz-Hunter, K.1
Ueda, J.2
Yue, B.Y.3
-
132
-
-
0034842533
-
Characterization of myocilin-myocilin interactions
-
Fautsch, M.P. and Johnson, D.H. (2001) Characterization of myocilin-myocilin interactions. Invest. Ophthal. Visual Sci., 42, 2324-2331.
-
(2001)
Invest. Ophthal. Visual Sci.
, vol.42
, pp. 2324-2331
-
-
Fautsch, M.P.1
Johnson, D.H.2
-
133
-
-
0042305307
-
Secreted glycoprotein myocilin is a component of the myelin sheath in peripheral nerves
-
Ohlmann, A., Goldwich, A., Flugel-Koch, C., Fuchs, A.-V., Schwager, K. and Tamm, E.R. (2003) Secreted glycoprotein myocilin is a component of the myelin sheath in peripheral nerves. Glia, 43, 128-140.
-
(2003)
Glia
, vol.43
, pp. 128-140
-
-
Ohlmann, A.1
Goldwich, A.2
Flugel-Koch, C.3
Fuchs, A.-V.4
Schwager, K.5
Tamm, E.R.6
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