-
1
-
-
9844252339
-
Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma
-
(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
-
3
-
-
0033859128
-
Further evidence for an association of ABCR alleles with age-related macular degeneration
-
(2000)
Am J Hum Genet
, vol.67
, pp. 487-491
-
-
Allikmets, R.1
-
4
-
-
17944385621
-
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
-
(1998)
N 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
-
7
-
-
0030985537
-
A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36
-
(1997)
Arch Ophthalmol
, vol.115
, pp. 384-388
-
-
Andersen, J.S.1
Pralea, A.M.2
DelBono, E.A.3
Haines, J.L.4
Gorin, M.B.5
Schuman, J.S.6
Mattox, C.G.7
Wiggs, J.L.8
-
8
-
-
17344362827
-
Mutations in CYP1B1, the gene for cytochrome P450B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia
-
(1998)
Am J Hum Genet
, vol.62
, pp. 325-333
-
-
Bejjani, B.1
Lewis, R.2
Tomey, K.3
Anderson, K.4
Dueker, D.5
Jabek, M.6
Astle, W.7
Otterund, B.8
Leppert, M.9
Lupsi, J.10
-
9
-
-
0034639693
-
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus
-
(2000)
Hum Mol Genet
, vol.9
, pp. 367-374
-
-
Bejjani, B.1
Stockton, D.2
Lewis, R.3
Tomey, K.4
Dueker, D.5
Jabak, M.6
Astle, W.7
Lupski, J.8
-
11
-
-
0034868797
-
Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier
-
(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
-
13
-
-
0035726085
-
An influence of variation in the aldosterone synthase gene (CYP11B2) on corticosteroid responses to ACTH in normal human subjects
-
(2001)
Clin Endocrinol (Oxf)
, vol.54
, pp. 813-817
-
-
Davies, E.1
Holloway, C.D.2
Ingram, M.C.3
Friel, E.C.4
Inglis, G.C.5
Swan, L.6
Hillis, W.S.7
Fraser, R.8
Connell, J.M.9
-
16
-
-
0000834316
-
The etiology, symptomatology and treatment of juvenile glaucoma
-
(1948)
Am J Ophthalmol
, vol.31
, pp. 1589-1596
-
-
Ellis, O.1
-
19
-
-
0344889215
-
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
-
(1999)
Hum Mol Genet
, vol.8
, pp. 899-905
-
-
Fingert, J.H.1
Héon, 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
-
20
-
-
0031942449
-
Characterization and comparison of the human and mouse GLC1A glaucoma genes
-
(1998)
Genome Res
, vol.8
, pp. 377-384
-
-
Fingert, J.H.1
Ying, L.2
Swiderski, R.E.3
Nystuen, A.M.4
Arbour, N.C.5
Alward, W.L.6
Sheffield, V.C.7
Stone, E.M.8
-
25
-
-
0029091048
-
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1435-1439
-
-
Héon, E.1
Sheth, B.P.2
Kalenak, J.W.3
Sunden, S.L.4
Streb, L.M.5
Taylor, C.M.6
Alward, W.L.7
Sheffield, V.C.8
Stone, E.M.9
-
27
-
-
0035879562
-
Is open-angle glaucoma associated with early menopause? The Rotterdam Study
-
(2001)
Am J Epidemiol
, vol.154
, pp. 138-144
-
-
Hulsman, C.A.1
Westendorp, I.C.2
Ramrattan, R.S.3
Wolfs, R.C.4
Witteman, J.C.5
Vingerling, J.R.6
Hofman, A.7
De Jong, P.T.8
-
28
-
-
0035479620
-
Genetic susceptibility to adverse environmental toxicants: The role of the effects of drugs and CYP family of enzymes
-
(2001)
Mutat Res
, vol.482
, pp. 11-19
-
-
Ingelman-Sundberg, M.1
-
32
-
-
0034955440
-
CYP2C19 genotype related effect of omeprazole on intragastric pH and antimicrobial stability
-
(2001)
Pharm Res
, vol.18
, pp. 615-621
-
-
Kita, T.1
Tanigawara, Y.2
Aoyama, N.3
Hohda, T.4
Saijoh, Y.5
Komada, F.6
Sakaeda, T.7
Okumura, K.8
Sakai, T.9
Kasuga, M.10
-
34
-
-
0032515345
-
Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A)
-
(1998)
Biochem Biophys Res Commun
, vol.242
, pp. 396-400
-
-
Kubota, R.1
Kudoh, J.2
Mashima, Y.3
Asakawa, S.4
Minoshima, S.5
Hejtmancik, J.F.6
Oguchi, Y.7
Shimizu, N.8
-
35
-
-
0031149050
-
A novel myosinlike protein (myocilin) expressed in the connecting cilium of the photoreceptor: Molecular cloning, tissue expression, and chromosomal mapping
-
(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
-
38
-
-
0031831075
-
Stable expression of human cytochrome P450 1B1 in V79 Chinese hamster cells and metabolically catalyzed DNA adduct formation of dibenzo[a, l]pyrene
-
(1998)
Chem Res Toxicol
, vol.11
, pp. 686-695
-
-
Luch, A.1
Coffing, S.L.2
Tang, Y.M.3
Schneider, A.4
Soballa, V.5
Greim, H.6
Jefcoate, C.R.7
Seidel, A.8
Greenlee, W.F.9
Baird, W.M.10
Doehmer, J.11
-
42
-
-
0034742439
-
Association between the 5′ UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorder
-
(2001)
Pharmacogenetics
, vol.11
, pp. 471-475
-
-
Niesler, B.1
Flohr, T.2
Nothen, M.M.3
Fischer, C.4
Rietschel, M.5
Franzek, E.6
Albus, M.7
Propping, P.8
Rappold, G.A.9
-
44
-
-
0034609945
-
Myocilin expression in the astrocytes of the optic nerve head
-
(2000)
Biochem Biophys Res Commun
, vol.276
, pp. 1129-1135
-
-
Noda, S.1
Mashima, Y.2
Obazawa, M.3
Kubota, R.4
Oguchi, Y.5
Kudoh, J.6
Minoshima, S.7
Shimizu, N.8
-
47
-
-
17644433309
-
Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product
-
(1997)
Ophthalmologica
, vol.211
, pp. 126-139
-
-
Polansky, J.R.1
Fauss, D.J.2
Chen, P.3
Chen, H.4
Lutjen-Drecoll, E.5
Johnson, D.6
Kurtz, R.M.7
Ma, Z.D.8
Bloom, E.9
Nguyen, T.D.10
-
48
-
-
0035423316
-
Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1631-1638
-
-
Priston, M.1
Kozlowski, K.2
Gill, D.3
Letwin, K.4
Buys, Y.5
Levin, A.V.6
Walter, M.A.7
Héon, E.8
-
49
-
-
0032491148
-
GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein
-
(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
-
51
-
-
10544233785
-
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
-
(1996)
Nat Genet
, vol.14
, pp. 392-399
-
-
Semina, E.1
Reiter, R.2
Leysens, N.3
Alward, W.4
Small, K.5
Datson, N.6
-
56
-
-
0033829572
-
Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma
-
(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
-
57
-
-
0034892729
-
Genetic polymorphisms and functional characterization of the 5′-flanking region of the human CYP2C9 gene: In vitro and in vivo studies
-
(2001)
Clin Pharmacol Ther
, vol.70
, pp. 175-182
-
-
Shintani, M.1
Ieiri, I.2
Inoue, K.3
Mamiya, K.4
Ninomiya, H.5
Tashiro, N.6
Higuchi, S.7
Otsubo, K.8
-
59
-
-
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
-
(1998)
Am J Hum Genet
, vol.62
, pp. 573-584
-
-
Stoilov, I.1
Akarsu, A.2
Alozie, I.3
Child, A.4
Barsoom-Homsy, M.5
Turacli, M.6
Or, M.7
Lewis, R.8
Ozdemir, N.9
Brice, G.10
Aktan, S.11
Chevrette, L.12
Coca-Prados, M.13
Sarfarazi, M.14
-
60
-
-
0030942553
-
Identification of three truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21
-
(1997)
Hum Mol Genet
, vol.6
, pp. 641-647
-
-
Stoilov, I.1
Akarsu, A.N.2
Sarfarazi, M.3
-
61
-
-
85007179227
-
Mutation screening of the CYP1B1 gene and phenotype-genotype correlation in primary congenital glaucoma cases from Brazil
-
(2001)
Invest Ophthalmol Vis Sci Suppl
, vol.42
, pp. S530
-
-
Stoilov, I.R.1
Costa, V.P.2
Vasconellos, J.P.C.3
Mello, M.B.4
Betinjane, A.J.5
Carani, J.C.E.6
Oltrogge, E.V.7
Sarfarazi, M.8
-
62
-
-
17344372403
-
Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma
-
(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
-
63
-
-
14444283397
-
Identification of a gene that causes primary open angle glaucoma
-
(1997)
Science
, vol.275
, pp. 668-670
-
-
Stone, E.M.1
Fingert, J.H.2
Alward, W.L.M.3
Nguyen, T.D.4
Polansky, J.R.5
Sunden, S.L.F.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
-
64
-
-
0028276386
-
Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2
-
(1994)
J Biol Chem
, vol.169
, pp. 13092-13099
-
-
Sutter, T.1
Tang, Y.2
Hayes, C.3
Wo, Y.-Y.4
Jabs, E.5
Li, X.6
Yin, H.7
Cody, C.8
Grennlee, W.9
-
67
-
-
0034526629
-
Human CYP1B1 Leu432Val gene polymorphism: Ethnic distribution in African-Americans, Caucasians and Chinese; oestradiol hydroxylase activity; and distribution in prostate cancer cases and controls
-
(2000)
Pharmacogenetics
, vol.10
, pp. 761-766
-
-
Tang, Y.M.1
Green, B.L.2
Chen, G.F.3
Thompson, P.A.4
Lang, N.P.5
Shinde, A.6
Lin, D.X.7
Tan, W.8
Lyn-Cook, B.D.9
Hammons, G.J.10
Kadlubar, F.F.11
-
70
-
-
0035039383
-
Phenotypic heterogeneity of CYP1B1: Mutations in a patient with Peters anomaly
-
(2001)
J Med Genet
, vol.38
, pp. 324-326
-
-
Vincent, A.L.1
Billingsley, G.2
Priston, M.3
Williams-Lyn, D.4
Sutherland, J.5
Glaser, T.6
Oliver, E.7
Walter, M.A.8
Heathcote, G.9
Levin, A.10
Héon, E.11
-
71
-
-
0034888202
-
Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy
-
(2001)
Am J Hum Genet
, vol.69
, pp. 471-480
-
-
Wilkie, S.E.1
Li, Y.2
Deery, E.C.3
Newbold, R.J.4
Garibaldi, D.5
Bateman, J.B.6
Zhang, H.7
Lin, W.8
Zack, D.J.9
Bhattacharya, S.S.10
Warren, M.J.11
Hunt, D.M.12
Zhang, K.13
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