-
1
-
-
9844252339
-
Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedinhomology domain of TIGR in familial open-angle glaucoma
-
Adam MF, Belmouden A, Binisti P, Brezin AP, Valtot F, Bechetoille A, Dascotte JC, Copin B, Gomez L, Chaventre A, Bach JF, Garchon HJ (1997) Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedinhomology 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
Bach, J.F.11
Garchon, H.J.12
-
2
-
-
17144439117
-
GLN368STOP myocilin mutations in families with late-onset primary open-angle glaucoma
-
Allingham RR, Wiggs JL, De La Paz MA, Vollrath D, Tallett DA, Broomer BA, Jones KH, Del Bono EA, Kern J, Patterson K, Haines JL, Pericak-Vance MA (1998) GLN368STOP myocilin mutations in families with late-onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci 39:2288-2295
-
(1998)
Invest Ophthalmol Vis 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.A.6
Jones, K.H.7
Del Bono, E.A.8
Kern, J.9
Patterson, K.10
Haines, J.L.11
Pericak-Vance, M.A.12
-
3
-
-
0036733041
-
Variations in the myocilin gene in patients with open-angle glaucoma
-
Alward WL, Kwon YH, Khanna CL, Johnson AT, Hayreh SS, Zimmerman MB, Narkiewicz J, Andorf JL, Moore PA, Fingert JH, Sheffield VC, Stone EM (2002) Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol 120:1189-1197
-
(2002)
Arch Ophthalmol
, 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
Sheffield, V.C.11
Stone, E.M.12
-
4
-
-
0032231877
-
Comprehensive human genetic maps: Individual and sex-specific variation in recombination
-
Broman KW, Murray JC, Sheffield VC, White RL, Weber JL (1998) Comprehensive human genetic maps: Individual and sex-specific variation in recombination. Am J Hum Genet 63:861-689
-
(1998)
Am J Hum Genet
, vol.63
, pp. 861-689
-
-
Broman, K.W.1
Murray, J.C.2
Sheffield, V.C.3
White, R.L.4
Weber, J.L.5
-
5
-
-
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, Fressotti R, Renieri A (2003) Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma. Arch Ophthalmol 121:1034-1038
-
(2003)
Arch Ophthalmol
, 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
Fressotti, R.9
Renieri, A.10
-
6
-
-
0034868797
-
Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368 STOP mutation being an important phenotypic modifier
-
Craig JE, Baird PN, Healey DL, McNaught AI, McCartney PJ, Rait JL, Dickinson JL, Roe L, Fingert JH, Stone EM, Mackey DA (2001) Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368 STOP 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
-
7
-
-
0345283019
-
Five-year incidence of bilateral cause-specific visual impairment in the Melbourne Visual Impairment Project
-
Dimitrov PN, Mukesh BN, McCarty CA, Taylor HR (2003) Five-year incidence of bilateral cause-specific visual impairment in the Melbourne Visual Impairment Project. Invest Ophthalmol Vis Sci 44:5075-5081
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 5075-5081
-
-
Dimitrov, P.N.1
Mukesh, B.N.2
McCarty, C.A.3
Taylor, H.R.4
-
8
-
-
0035157638
-
Apoptosis, neuroprotection, and retinal ganglion cell death: An overview
-
Farkas RH, Grosskreutz CL (2001) Apoptosis, neuroprotection, and retinal ganglion cell death: an overview. Int Ophthalmol Clin 41:111-130
-
(2001)
Int Ophthalmol Clin
, vol.41
, pp. 111-130
-
-
Farkas, R.H.1
Grosskreutz, C.L.2
-
9
-
-
0344889215
-
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
-
Fingert JH, Heon E, Liebmann JM, Yamamoto T, Craig JE, Rait J, Kawase K, Hoh ST, Buys YM, Dickinson J, Hockey RR, Williams-Lyn D, Trope G, Kitazawa Y, Ritch R, Mackey DA, Alward WL, Sheffield VC, Stone EM (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
Hockey, R.R.11
Williams-Lyn, D.12
Trope, G.13
Kitazawa, Y.14
Ritch, R.15
Mackey, D.A.16
Alward, W.L.17
Sheffield, V.C.18
Stone, E.M.19
-
10
-
-
0036894675
-
A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin GLN368STOP mutation
-
Graul TA, Kwon YH, Zimmerman MB, Kim CS, Sheffield VC, Stone EM, Alward WL (2002) A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin GLN368STOP mutation. Am J Ophthalmol 134:884-890
-
(2002)
Am J Ophthalmol
, vol.134
, pp. 884-890
-
-
Graul, T.A.1
Kwon, Y.H.2
Zimmerman, M.B.3
Kim, C.S.4
Sheffield, V.C.5
Stone, E.M.6
Alward, W.L.7
-
11
-
-
0034098774
-
Allegro, a new computer program for multipoint linkage analysis
-
Gudbjartsson DR, Jonasson K, Frigge ML, Kong A (2000) Allegro, a new computer program for multipoint linkage analysis. Nat Genet 25:12-13
-
(2000)
Nat Genet
, vol.25
, pp. 12-13
-
-
Gudbjartsson, D.R.1
Jonasson, K.2
Frigge, M.L.3
Kong, A.4
-
12
-
-
0036566556
-
VSXI: A gene for posterior polymorphous dystrophy and keratoconus
-
Heon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM (2002) VSXI: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet 11: 1029-1036
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1029-1036
-
-
Heon, E.1
Greenberg, A.2
Kopp, K.K.3
Rootman, D.4
Vincent, A.L.5
Billingsley, G.6
Priston, M.7
Dorval, K.M.8
Chow, R.L.9
McInnes, R.R.10
Heathcote, G.11
Westall, C.12
Sutphin, J.E.13
Semina, E.14
Bremner, R.15
Stone, E.M.16
-
13
-
-
0344983870
-
Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells
-
Joe MK, Sohn S, Hur W, Moon Y, Choi YR, Kee C (2003) Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells. Biochem Biophys Res Commun 312:592-600
-
(2003)
Biochem Biophys Res Commun
, vol.312
, pp. 592-600
-
-
Joe, M.K.1
Sohn, S.2
Hur, W.3
Moon, Y.4
Choi, Y.R.5
Kee, C.6
-
14
-
-
0034780081
-
Targeted disruption of the myocilin gene (MYOC) suggests that human glaucoma-causing mutations are gain of function
-
Kim BS, Savinova OV, Reedy MV, Martin J, Lun Y, Gan L, Smith RS, Tomarev SI, John SW, Johnson RL (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
-
15
-
-
18544381909
-
A high-resolution recombination map of the human genome
-
Kong A, Gudbjartsson DF, Sainz J, Jonsdottir GM, Gudjonsson SA, Richardsson B, Sigurdardottir S, Barnard J, Hallbeck B, Masson G, Shlien A, Palssson ST, Frigge ML, Thorgeirsson TE, Gulcher JR, Stefansson K (2002) A high-resolution recombination map of the human genome. Nat Genet 31:241-247
-
(2002)
Nat Genet
, vol.31
, pp. 241-247
-
-
Kong, A.1
Gudbjartsson, D.F.2
Sainz, J.3
Jonsdottir, G.M.4
Gudjonsson, S.A.5
Richardsson, B.6
Sigurdardottir, S.7
Barnard, J.8
Hallbeck, B.9
Masson, G.10
Shlien, A.11
Palssson, S.T.12
Frigge, M.L.13
Thorgeirsson, T.E.14
Gulcher, J.R.15
Stefansson, K.16
-
17
-
-
0042563065
-
Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation
-
Mackey DA, Healey DL, Fingert JH, Coote MA, Wong TL, Wilkinson CH, McCartney PJ, Rait JL, de Graaf AP, Stone EM, Craig JE (2003) Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation. Arch Ophthalmol 121: 1172-1180
-
(2003)
Arch Ophthalmol
, 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
-
18
-
-
0032513020
-
Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells
-
Nguyen TD, Chen P, Huang WD, Chen H, Johnson D, Polansky JR (1998) Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells. J Biol Chem 273: 6341-50
-
(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
-
19
-
-
13144277532
-
Novel trabecular meshwork inducible glucocorticoid response mutation in an eight generation juvenile onset primary open angle glaucoma pedigree
-
Richards JE, Ritch R, Lichter PR, Rozsa FW, Stringham HM, Caronia RM, Johnson D, Abundo GP, Willcockson J, Downs CA, Thompson DA, Musarella MA, Gupta N, Othman MI, Torrez DM, Herman SB, Wong DJ, Higashi M, Boehnke M (1998) Novel trabecular meshwork inducible glucocorticoid response mutation in an eight generation juvenile onset primary open angle glaucoma pedigree. Ophthalmology 105:1698-1707
-
(1998)
Ophthalmology
, vol.105
, pp. 1698-1707
-
-
Richards, J.E.1
Ritch, R.2
Lichter, P.R.3
Rozsa, F.W.4
Stringham, H.M.5
Caronia, R.M.6
Johnson, D.7
Abundo, G.P.8
Willcockson, J.9
Downs, C.A.10
Thompson, D.A.11
Musarella, M.A.12
Gupta, N.13
Othman, M.I.14
Torrez, D.M.15
Herman, S.B.16
Wong, D.J.17
Higashi, M.18
Boehnke, M.19
-
20
-
-
0032491148
-
GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein
-
Rozsa FW, Shimizu S, Lichter PR, Johnson AT, Othman MI, Scott K, Downs CA, Nguyen TD, Polansky J, Richards JE (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
-
21
-
-
0037000982
-
A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy
-
Schmidt S, Klaver C, Saunders A, Postel E, De La Paz M, Agarwal A, Small K, Udar N, Ong J, Chalukya M, Nesburn A, Kenney C, Domurath R, Hogan M, Mah T, Conley Y, Ferrell R, Weeks D, de Jong PT, van Duijn C, Haines J, Pericak-Vance M, Gorin M (2002) A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy. Ophthalmic Genet 23:209-223
-
(2002)
Ophthalmic Genet
, vol.23
, pp. 209-223
-
-
Schmidt, S.1
Klaver, C.2
Saunders, A.3
Postel, E.4
De La Paz, M.5
Agarwal, A.6
Small, K.7
Udar, N.8
Ong, J.9
Chalukya, M.10
Nesburn, A.11
Kenney, C.12
Domurath, R.13
Hogan, M.14
Mah, T.15
Conley, Y.16
Ferrell, R.17
Weeks, D.18
De Jong, P.T.19
Van Duijn, C.20
Haines, J.21
Pericak-Vance, M.22
Gorin, M.23
more..
-
22
-
-
0033829572
-
Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma
-
Shimizu S, Lichter PR, Johnson AT, Zhou Z, Higashi M, Gottfredsdottir M, Othman M, Moroi SE, Rozsa FW, Schertzer RM, Clarke MS, Schwartz AL, Downs CA, Vollrath D, Richards JE (2000) Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am J Ophthalmol 130:165-177
-
(2000)
Am J Ophthalmol
, 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
Clarke, M.S.11
Schwartz, A.L.12
Downs, C.A.13
Vollrath, D.14
Richards, J.E.15
-
23
-
-
14444283397
-
Identification of a gene that causes primary open angle glaucoma
-
Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC (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
Mackey, D.A.11
Ritch, R.12
Kalenak, J.W.13
Craven, E.R.14
Sheffield, V.C.15
-
24
-
-
0345146919
-
Penetrance and phenotype of the Cys433Arg myocilin mutation in a family pedigree with primary open-angle glaucoma
-
de Vasconcellos JP, de Melo MB, Schimiti R, Costa FF, Costa VP (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
-
25
-
-
0034639929
-
Genome-wide scan for adult onset primary open angle glaucoma
-
Wiggs JL, Allingham RR, Hossain A, Kern J, Auguste J, Del Bono EA, Broomer B, Graham FL, Hauser M, Pericak-Vance M, Haines JL (2000) Genome-wide scan for adult onset primary open angle glaucoma. Hum Mol Genet 9:1109-1117
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1109-1117
-
-
Wiggs, J.L.1
Allingham, R.R.2
Hossain, A.3
Kern, J.4
Auguste, J.5
Del Bono, E.A.6
Broomer, B.7
Graham, F.L.8
Hauser, M.9
Pericak-Vance, M.10
Haines, J.L.11
-
26
-
-
0032231625
-
Prevalence of mutation in TIGR/myocilin in patients with adult and juvenile primary open-angle glaucoma
-
Wiggs JL, Allingham RR, Vollrath D, Jones KH, De La Paz M, Kern J, Patterson K, Babb VL, Del Bono EA, Broomer BW, Pericak-Vance MA, Haines JL (1998) Prevalence of mutation 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
Pericak-Vance, M.A.11
Haines, J.L.12
-
27
-
-
0029655595
-
The distinction between juvenile and adult-onset primary open-angle glaucoma
-
Wiggs JL, Damji KF, Haines JL, Pericak-Vance MA, Allingham RR (1996) The distinction between juvenile and adult-onset primary open-angle glaucoma. Am J Hum Genet 58:243-244
-
(1996)
Am J Hum Genet
, vol.58
, pp. 243-244
-
-
Wiggs, J.L.1
Damji, K.F.2
Haines, J.L.3
Pericak-Vance, M.A.4
Allingham, R.R.5
-
28
-
-
0029557617
-
Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31
-
Wiggs JL, Del Bono EA, Schuman JS, Hutchinson BT, Walton DS (1995) Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31. Ophthalmology 102:1782-1789
-
(1995)
Ophthalmology
, vol.102
, pp. 1782-17891
-
-
Wiggs, J.L.1
Del Bono, E.A.2
Schuman, J.S.3
Hutchinson, B.T.4
Walton, D.S.5
-
29
-
-
0034761709
-
Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC
-
Wiggs JL, Vollrath D (2001) Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC. Arch Ophthalmol 119:1674-1678
-
(2001)
Arch Ophthalmol
, vol.119
, pp. 1674-1678
-
-
Wiggs, J.L.1
Vollrath, D.2
|