-
2
-
-
0024388554
-
Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primary congenital glaucoma in gypsies with autosomal recessive inheritance and complete penetrance
-
Gencik A. Epidemiology and genetics of primary congenital glaucoma in Slovakia: Description of a form of primary congenital glaucoma in gypsies with autosomal recessive inheritance and complete penetrance. Dev Ophthalmol 1989;16:76-115.
-
(1989)
Dev Ophthalmol
, vol.16
, pp. 76-115
-
-
Gencik, A.1
-
3
-
-
0019936088
-
Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset
-
DOI 10.1007/BF00296440
-
Gencik A, Gencikova A, Ferák V. Population genetical aspects of primary congenital glaucoma: I, Incidence, prevalence, gene frequency, and age of onset. Hum Genet 1982;61:193-7. (Pubitemid 12004521)
-
(1982)
Human Genetics
, vol.61
, Issue.3
, pp. 193-197
-
-
Gencik, A.1
Gencikova, A.2
Ferak, V.3
-
5
-
-
0033926590
-
Molecular genetics of primary congenital glaucoma
-
Sarfarazi M, Stoilov I. Molecular genetics of primary congenital glaucoma. Eye 2000;14:422-8. (Pubitemid 30479743)
-
(2000)
Eye
, vol.14
, Issue.B3
, pp. 422-428
-
-
Sarfarazi, M.1
Stoilov, I.2
-
6
-
-
0036272051
-
Molecular genetics of primary congenital glaucoma in Brazil
-
Stoilov IR, Costa VP, Vasconcellos JP, Melo MB, Betinjane AJ, Carani JC, et al. Molecular genetics of primary congenital glaucoma in Brazil. Invest Ophthalmol Vis Sci 2002;43:1820-7. (Pubitemid 34587027)
-
(2002)
Investigative Ophthalmology and Visual Science
, vol.43
, Issue.6
, pp. 1820-1827
-
-
Stoilov, I.R.1
Costa, V.P.2
Vasconcellos, J.P.C.3
Melo, M.B.4
Betinjane, A.J.5
Carani, J.C.E.6
Oltrogge, E.V.7
Sarfarazi, M.8
-
7
-
-
0028880039
-
Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity
-
Sarfarazi M, Akarsu AN, Hossain A, Turacli ME, Aktan SG, Barsoum-Homsy M, et al. Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 1995;30:171-7.
-
(1995)
Genomics
, vol.30
, pp. 171-7
-
-
Sarfarazi, M.1
Akarsu, A.N.2
Hossain, A.3
Turacli, M.E.4
Aktan, S.G.5
Barsoum-Homsy, M.6
-
8
-
-
0029836678
-
A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region
-
Akarsu AN, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS, et al. A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Hum Mol Genet 1996;5:1199-203. (Pubitemid 26318561)
-
(1996)
Human Molecular Genetics
, vol.5
, Issue.8
, pp. 1199-1203
-
-
Akarsu, A.N.1
Turacli, M.E.2
Aktan, S.G.3
Barsoum-Homsy, M.4
Chevrette, L.5
Sayli, B.S.6
Sarfarazi, M.7
-
9
-
-
15844369913
-
Third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24.3
-
Stoilov IR, Sarfarazi M. Third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24.3. Invest Ophthalmol Vis Sci 2002;43E3015.
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
-
-
Stoilov, I.R.1
Sarfarazi, M.2
-
10
-
-
0031973099
-
Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia
-
Plsilov M, Ferákov E, Kdasi L, Polkov H, Gerinec A, Ott J, et al. Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia. Hum Hered 1998;48:30-3.
-
(1998)
Hum Hered
, vol.48
, pp. 30-3
-
-
Plásilová, M.F.1
-
11
-
-
0030942553
-
Identification of three different 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
-
DOI 10.1093/hmg/6.4.641
-
Stoilov I, Akarsu AN, Sarfarazi M. Identification of three different truncating mutations in cytochrome P450 1B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 1997;6:641-7. (Pubitemid 27142117)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.4
, pp. 641-647
-
-
Stoilov, I.1
Akarsu, A.N.2
Sarfarazi, M.3
-
12
-
-
0026771276
-
The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes
-
Saccone S, De Sario A, Della Valle G, Bernardi G. The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes. Proc Natl Acad Sci USA 1992;89:4913-7.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 4913-7
-
-
Saccone, S.1
De Sario, A.2
Della Valle, G.3
Bernardi, G.4
-
15
-
-
0035036154
-
Regulation, function, and tissue-specific expression of cytochrome P450 CYP1B1
-
DOI 10.1146/annurev.pharmtox.41.1.297
-
Murray GI, Melvin WT, Greenlee WF, Burke MD. Regulation, function, and tissue-specific expression of cytochrome P450 CYP1B1. Annu Rev Pharmacol Toxicol 2001;41:297-316. (Pubitemid 32390115)
-
(2001)
Annual Review of Pharmacology and Toxicology
, vol.41
, pp. 297-316
-
-
Murray, G.I.1
Melvin, W.T.2
Greenlee, W.F.3
Burke, M.D.4
-
16
-
-
0030008731
-
Activation of chemically diverse procarcinogens by human cytochrome P-450 1B1
-
Shimada T, Hayes CL, Yamazaki H, Amin S, Hecht SS, Guengerich FP, et al. Activation of chemically diverse procarcinogens by human cytochrome P-4501B1. Cancer Res 1996;56:2979-84. (Pubitemid 26199741)
-
(1996)
Cancer Research
, vol.56
, Issue.13
, pp. 2979-2984
-
-
Shimada, T.1
Hayes, C.L.2
Yamazaki, H.3
Amin, S.4
Hecht, S.S.5
Guengerich, F.P.6
Sutter, T.R.7
-
17
-
-
0034743322
-
Specificity of 17β-oestradiol and benzo[a]pyrene oxidation by polymorphic human cytochrome P4501B1 variants substituted at residues 48, 119 and 432
-
DOI 10.1080/00498250110043490
-
Shimada T, Watanabe J, Inoue K, Guengerich FP, Gillam EM. Specificity of 17β-oestradiol and benzo (a) pyrene oxidation by polymorphic human cytochrome P4501B1 variants substituted at residues 48,119 and 432. Xenobiotica 2001;31:163-76. (Pubitemid 32635344)
-
(2001)
Xenobiotica
, vol.31
, Issue.3
, pp. 163-176
-
-
Shimada, T.1
Watanabe, J.2
Inoue, K.3
Guengerich, F.P.4
Gillam, E.M.J.5
-
18
-
-
0036178055
-
Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an ethiopian population
-
DOI 10.1124/mol.61.3.586
-
Akillu E, Oscarson M, Hidestrand M, Leidvik B, Otter C, Ingelman-Sundberg M. Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethopian population. Mol Paharmacol 2002;61:586-94. (Pubitemid 34171924)
-
(2002)
Molecular Pharmacology
, vol.61
, Issue.3
, pp. 586-594
-
-
Aklillu, E.1
Oscarson, M.2
Hidestrand, M.3
Leidvik, B.4
Otter, C.5
Ingelman-Sundberg, M.6
-
19
-
-
0036382810
-
Polymorphisms of the CYP1B1 gene have higher risk for prostate cancer
-
Tanaka Y, Sasaki M, Kaneuchi M, Shiina H, Igawa M, Dahiya R. Polymorphisms of the CYP1B1 gene have higher risk for prostate cancer. Biochem Biophys Res Commun 2002;296:820-6.
-
(2002)
Biochem Biophys Res Commun
, vol.296
, pp. 820-6
-
-
Tanaka, Y.1
Sasaki, M.2
Kaneuchi, M.3
Shiina, H.4
Igawa, M.5
Dahiya, R.6
-
20
-
-
0034050485
-
Association of CYP1B1 genetic polymorphism with incidence to breast and lung cancer
-
DOI 10.1097/00008571-200002000-00004
-
Watanabe J, Shimada T, Gillam EM, Ikuta T, Suemasu K, Higashi Y, et al. Association of CYP1B1 genetic polymorphism with incidence to breast and lung cancer. Pharmacogenetics 2000;10:25-33. (Pubitemid 30142810)
-
(2000)
Pharmacogenetics
, vol.10
, Issue.1
, pp. 25-33
-
-
Watanabe, J.1
Shimada, T.2
Gillam, E.M.J.3
Ikuta, T.4
Suemasu, K.5
Higashi, Y.6
Gotoh, O.7
Kawajiri, K.8
-
21
-
-
0033998724
-
Genetic polymorphism of cytochrome P450-1B1 and risk of breast cancer
-
Zheng W, Xie DW, Jin F, Cheng JR, Dai Q, Wen WQ, et al. Genetic polymorphism of cytochrome P450-1B1 and risk of breast cancer. Cancer Epidemiol Biomarkers Prev 2000;9:147-50. (Pubitemid 30111936)
-
(2000)
Cancer Epidemiology Biomarkers and Prevention
, vol.9
, Issue.2
, pp. 147-150
-
-
Zheng, W.1
Xie, D.-W.2
Jin, F.3
Cheng, J.-R.4
Dai, Q.5
Wen, W.-Q.6
Shu, X.-O.7
Gao, Y.-T.8
-
22
-
-
0038327885
-
Molecular modelling of human CYP1B1 substrate interactions and investigation of allelic variant effects on metabolism
-
DOI 10.1016/S0009-2797(03)00021-8
-
Lewis DF, Gillam EM, Everett SA, Shimada T. Molecular modelling of human CYP1B1 substrate interactions and investigation of allelic variant effects on metabolism. Chem Biol Interactions 2003;145:281-95. (Pubitemid 36549112)
-
(2003)
Chemico-Biological Interactions
, vol.145
, Issue.3
, pp. 281-295
-
-
Lewis, D.F.V.1
Gillam, E.M.J.2
Everett, S.A.3
Shimada, T.4
-
23
-
-
30344478861
-
Immunolocalization of CYP1B1 in normal, human, fetal and adult eyes
-
DOI 10.1016/j.exer.2005.04.016, PII S0014483505001314
-
Doshi M, Marcus C, Bejjani BA, Edward DP. Immunolocalization of CYP1B1 in normal, human, fetal and adult eyes. Exp Eye Res 2006;82:24-32. (Pubitemid 43063394)
-
(2006)
Experimental Eye Research
, vol.82
, Issue.1
, pp. 24-32
-
-
Doshi, M.1
Marcus, C.2
Bejjani, B.A.3
Edward, D.P.4
-
24
-
-
34249048046
-
Cyp1b1 protein in the mouse eye during development: An immunohistochemical study
-
DOI 10.1124/dmd.106.014282
-
Choudhary D, Jansson I, Rezaul K, Han DK, Sarfarazi M, Schenkman JB. Cyp1b1 protein in the mouse eye during development: An immunohistochemical study. Drug Metab Dispos 2007;35:987-94. (Pubitemid 46798609)
-
(2007)
Drug Metabolism and Disposition
, vol.35
, Issue.6
, pp. 987-994
-
-
Choudhary, D.1
Jansson, I.2
Rezaul, K.3
Han, D.K.M.4
Sarfarazi, M.5
Schenkman, J.B.6
-
25
-
-
0033514998
-
Cytochrome p450 CYP1B1 determines susceptibility to 7,12- dimethylbenz[a]anthracene-induced lymphomas
-
DOI 10.1073/pnas.96.5.1977
-
Buters JT, Sakai S, Richter T, Pineau T, Alexander DL, Savas U, et al. Cytochrome P450 CYP1B1 determines susceptibility to 7, 12-dimethylbenz[a] anthracene-induced lymphomas. Proc Natl Acad Sci U S A 1999;96:1977-82. (Pubitemid 29117853)
-
(1999)
Proceedings of the National Academy of Sciences of the United States of America
, vol.96
, Issue.5
, pp. 1977-1982
-
-
Buters, J.T.M.1
Sakai, S.2
Richter, T.3
Pineau, T.4
Alexander, D.L.5
Savas, U.6
Doehmer, J.7
Ward, J.M.8
Jefcoate, C.R.9
Gonzalez, F.J.10
-
26
-
-
0037423886
-
Modification of ocular defects in mouse developmental glaucoma models by tyrosinase
-
DOI 10.1126/science.1080095
-
Libby RT, Smith RS, Savinova OV, Zabaleta A, Martin JE, Gonzalez FJ, et al. Modification of ocular defects in mouse developmental glaucoma models by tyrosinase. Science 2003;299:1578-81. (Pubitemid 36297708)
-
(2003)
Science
, vol.299
, Issue.5612
, pp. 1578-1581
-
-
Libby, R.T.1
Smith, R.S.2
Savinova, O.V.3
Zabaleta, A.4
Martin, J.E.5
Gonzalez, F.J.6
John, S.W.M.7
-
27
-
-
34248137450
-
RALDH-independent generation of retinoic acid during vertebrate embryogenesis by CYP1B1
-
DOI 10.1242/dev.02815
-
Chambers D, Wilson L, Malcolm M, Lumsden A. RALDH-independent generation pf retinoic acid during vertebrate embryogenesis by CYP1B1. Development 2007;134:1369-83. (Pubitemid 46706043)
-
(2007)
Development
, vol.134
, Issue.7
, pp. 1369-1383
-
-
Chambers, D.1
Wilson, L.2
Maden, M.3
Lumsden, A.4
-
28
-
-
0034854849
-
Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma
-
Mashima Y, Suzuki Y, Sergeev Y, Ohtake Y, Tanino T, Kimura I, et al. Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma. Invest Ophthalmol Vis Sci 2001;42:2211-6. (Pubitemid 32848848)
-
(2001)
Investigative Ophthalmology and Visual Science
, vol.42
, Issue.10
, pp. 2211-2216
-
-
Mashima, Y.1
Suzuki, Y.2
Sergeev, Y.3
Ohtake, Y.4
Tanino, T.5
Kimura, I.6
Miyata, H.7
Aihara, M.8
Tanihara, H.9
Inatani, M.10
Azuma, N.11
Iwata, T.12
Araie, M.13
-
29
-
-
18344398251
-
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients
-
Sitorus R, Ardjo SM, Lorenz B, Preising M. CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients. J Med Genet 2003;40:e9.
-
(2003)
J Med Genet
, vol.40
-
-
Sitorus, R.1
Ardjo, S.M.2
Lorenz, B.3
Preising, M.4
-
30
-
-
77957730069
-
A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma
-
Chakrabarti S, Ghanekar Y, Kaur K, Kaur I, Mandal AK, Rao KN, et al. A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma. Hum Mol Genet 2010;19:4083-90.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4083-90
-
-
Chakrabarti, S.1
Ghanekar, Y.2
Kaur, K.3
Kaur, I.4
Mandal, A.K.5
Rao, K.N.6
-
31
-
-
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
-
Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, et al. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet 2000;12:367-74. (Pubitemid 30098730)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.3
, pp. 367-374
-
-
Bejjani, B.A.1
Stockton, D.W.2
Lewis, R.A.3
Tomey, K.F.4
Dueker, D.K.5
Jabak, M.6
Astle, W.F.7
Lupski, J.R.8
-
32
-
-
2442723700
-
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
-
Plsilová M, Stoilov I, Sarfarazi M, Kdasi L, et al. Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J Med Genet 1999;36:290-4.
-
(1999)
J Med Genet
, vol.36
, pp. 290-4
-
-
Plásilová, M.S.1
-
33
-
-
0036240676
-
Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees
-
Panicker SG, Reddy AB, Mandal AK, Ahmed N, Nagarajaram HA, Hasnain SE, et al. Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. Invest Ophthalmol Vis Sci 2002;43:1358-66. (Pubitemid 34462631)
-
(2002)
Investigative Ophthalmology and Visual Science
, vol.43
, Issue.5
, pp. 1358-1366
-
-
Panicker, S.G.1
Reddy, A.B.M.2
Mandal, A.K.3
Ahmed, N.4
Nagarajaram, H.A.5
Hasnain, S.E.6
Balasubramanian, D.7
-
34
-
-
0141765727
-
Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients
-
DOI 10.1167/iovs.02-0945
-
Reddy AB, Panicker SG, Mandal AK, Hasnain SE, Balasubramanian D. Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients. Invest Ophthalmol Vis Sci 2003;44:4200-3. (Pubitemid 37186251)
-
(2003)
Investigative Ophthalmology and Visual Science
, vol.44
, Issue.10
, pp. 4200-4203
-
-
Reddy, A.B.M.1
Panicker, S.G.2
Mandal, A.K.3
Hasnain, S.E.4
Balasubramanian, D.5
-
35
-
-
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
-
DOI 10.1086/301764
-
Stoilov I, Akarsu AN, Alozie I, Child A, Barsoum-Homsy M, Turacli ME, et al. 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 1998;62:573-84. (Pubitemid 28164614)
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.3
, 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
Aktan, S.G.11
Chevrette, L.12
Coca-Prados, M.13
Sarfarazi, M.14
-
36
-
-
34548189984
-
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes
-
DOI 10.2353/jmoldx.2007.060157
-
Chitsazian F, Tusi BK, Elahi E, Saroei HA, Sanati MH, Yazdani S, et al. CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. J Mol Diagn 2007;9:382-93. (Pubitemid 47305074)
-
(2007)
Journal of Molecular Diagnostics
, vol.9
, Issue.3
, pp. 382-393
-
-
Chitsazian, F.1
Tusi, B.K.2
Elahi, E.3
Saroei, H.A.4
Sanati, M.H.5
Yazdani, S.6
Pakravan, M.7
Nilforooshan, N.8
Eslami, Y.9
Zare Mehrjerdi, M.A.10
Zareei, R.11
Jabbarvand, M.12
Abdolahi, A.13
Lasheyee, A.R.14
Etemadi, A.15
Bayat, B.16
Sadeghi, M.17
Banoei, M.M.18
Ghafarzadeh, B.19
Rohani, M.R.20
Rismanchian, A.21
Thorstenson, Y.22
Sarfarazi, M.23
more..
-
37
-
-
15844383248
-
Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients
-
Reddy AB, Kaur K, Mandal AK, Panicker SG, Thomas R, Hasnain SE, et al. Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. Mol Vis 2004;10:696-702. (Pubitemid 41358225)
-
(2004)
Molecular Vision
, vol.10
, pp. 696-702
-
-
Reddy, A.B.M.1
Kaur, K.2
Mandal, A.K.3
Panicker, S.G.4
Thomas, R.5
Hasnain, S.E.6
Balasubramanian, D.7
Chakrabarti, S.8
-
38
-
-
34548309440
-
Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations
-
Bagiyeva S, Marfany G, Gonzalez-Angulo O, Gonzalez-Duarte R. Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations. Mol Vis 2007;13:1458-68. (Pubitemid 47336811)
-
(2007)
Molecular Vision
, vol.13
, pp. 1458-1468
-
-
Bagiyeva, S.1
Marfany, G.2
Gonzalez-Angulo, O.3
Gonzalez-Duarte, R.4
-
39
-
-
33644848333
-
Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds
-
DOI 10.1167/iovs.05-0912
-
Chakrabarti S, Kaur K, Kaur I, Mandal AK, Parikh RS, Thomas R, et al. Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds. Invest Ophthalmol Vis Sci 2006;47:43-7. (Pubitemid 46780793)
-
(2006)
Investigative Ophthalmology and Visual Science
, vol.47
, Issue.1
, pp. 43-47
-
-
Chakrabarti, S.1
Kaur, K.2
Kaur, I.3
Mandal, A.K.4
Parikh, R.S.5
Thomas, R.6
Majumder, P.P.7
-
40
-
-
33745925304
-
Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma
-
López-Garrido MP, Sánchez-Snchez F, Lpez-Martínez F, Aroca-Aguilar JD, Blanco-Marchite C, Coca-Prados M, et al. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis 2006;12:748-55.
-
(2006)
Mol Vis
, vol.12
, pp. 748-55
-
-
López-Garrido Mp, S.1
-
41
-
-
0036821466
-
A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco
-
DOI 10.1034/j.1399-0004.2002.620415.x
-
Belmouden A, Melki R, Hamdani M, Zaghloul K, Amraoui A, Nadifi S, et al. A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. Clin Genet 2002;62:334-9. (Pubitemid 36372753)
-
(2002)
Clinical Genetics
, vol.62
, Issue.4
, pp. 334-339
-
-
Belmouden, A.1
Melki, R.2
Hamdani, M.3
Zaghloul, K.4
Amraoui, A.5
Nadifi, S.6
Akhayat, O.7
Garchon, H.-J.8
-
42
-
-
2142702294
-
Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma
-
DOI 10.1167/iovs.03-0404
-
Panicker SG, Mandal AK, Reddy AB, Gothwal VK, Hasnain SE. Correlation between genotype and phenotype in Indian primary congenital glaucoma patients. Invest Ophthalmol Vis Sci 2004;45:1149-56. (Pubitemid 38869020)
-
(2004)
Investigative Ophthalmology and Visual Science
, vol.45
, Issue.4
, pp. 1149-1156
-
-
Panicker, S.G.1
Mandal, A.K.2
Reddy, A.B.M.3
Gothwal, V.K.4
Hasnain, S.E.5
-
43
-
-
34248212139
-
Role of CYP1B1, MYOC, OPTN and OPTC genes in adult-onset primary open-angle glaucoma: Predominance of CYP1B1 mutations in Indian patients
-
Kumar A, Basavaraj MG, Gupta SK, Qamar I, Ali AM, Bajaj V, et al. Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: Predominance of CYP1B1 mutations in Indian patients. Mol Vis 2007;13:667-76. (Pubitemid 46722230)
-
(2007)
Molecular Vision
, vol.13
, pp. 667-676
-
-
Kumar, A.1
Basavaraj, M.G.2
Gupta, S.K.3
Qamar, I.4
Ali, A.M.5
Bajaj, V.6
Ramesh, T.K.7
Prakash, R.D.8
Shetty, J.S.9
Dorairaj, S.K.10
-
44
-
-
33645860816
-
Primary role of CYP1B1 in Indian juvenile-onset POAG patients
-
Acharya M, Mookherjee S, Bhattacharjee A, Bandyopadhyay AK, Daulat Thakur SK, Bhaduri G, et al. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis 2006;12:399-404.
-
(2006)
Mol Vis
, vol.12
, pp. 399-404
-
-
Acharya, M.1
Mookherjee, S.2
Bhattacharjee, A.3
Bandyopadhyay, A.K.4
Daulat Thakur, S.K.5
Bhaduri, G.6
-
45
-
-
1942522732
-
Novel cytochrome P4501B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France
-
Colomb E, Kaplan J, Garchon HJ. Novel cytochrome P4501B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. Hum Mut 2003;22:496.
-
(2003)
Hum Mut
, vol.22
, pp. 496
-
-
Colomb, E.1
Kaplan, J.2
Garchon, H.J.3
-
46
-
-
4444315011
-
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma
-
DOI 10.1136/jmg.2004.020024
-
Melki R, Colomb E, Lefort N, Brzin AP, Garchon HJ. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet 2004;41:647-51. (Pubitemid 39208603)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.9
, pp. 647-651
-
-
Melki, R.1
Colomb, E.2
Lefort, N.3
Brezin, A.P.4
Garchon, H.-J.5
-
47
-
-
34548138898
-
Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma
-
DOI 10.1111/j.1399-0004.2007.00864.x
-
Dimasi DP, Hewitt AW, Straga T, Pater J, MacKinnon JR, Elder JE, et al. Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma. Clin Genet 2007;72:255-60. (Pubitemid 47300029)
-
(2007)
Clinical Genetics
, vol.72
, Issue.3
, pp. 255-260
-
-
Dimasi, D.P.1
Hewitt, A.W.2
Straga, T.3
Pater, J.4
Mackinnon, J.R.5
Elder, J.E.6
Casey, T.7
Mackey, D.A.8
Craig, J.E.9
-
48
-
-
0037340268
-
Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma
-
DOI 10.1136/bjo.87.3.302
-
Ohtake Y, Tanino T, Suzuki Y, Miyata H, Taomoto M, Azuma N, et al. Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma. Br J Ophthalmol 2003;87:302-4. (Pubitemid 36307903)
-
(2003)
British Journal of Ophthalmology
, vol.87
, Issue.3
, pp. 302-304
-
-
Ohtake, Y.1
Tanino, T.2
Suzuki, Y.3
Miyata, H.4
Taomoto, M.5
Azuma, N.6
Tanihara, H.7
Araie, M.8
Mashima, Y.9
-
49
-
-
0034865641
-
Primary congenital glaucoma: Three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene
-
Michels-Rautenstrauss KG, Mardin CY, Zenker M, Jordan N, Gusek-Schneider GC, Rautenstrauss BW. Primary congenital glaucoma: Three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene. J Glaucoma 2001;10:354-7. (Pubitemid 32781353)
-
(2001)
Journal of Glaucoma
, vol.10
, Issue.4
, pp. 354-357
-
-
Michels-Rautenstrauss, K.G.1
Mardin, C.Y.2
Zenker, M.3
Jordancand, N.4
Gusek-Schneider, G.-C.5
Rautenstrauss, B.W.6
-
50
-
-
33144465347
-
Molecular and clinical evaluation of primary congenital glaucoma in Kuwait
-
DOI 10.1016/j.ajo.2005.11.001, PII S0002939405011797
-
Alfadhli S, Behbehani A, Elshafey A, Abdelmoaty S, Al-Awadi S. Molecular and clinical evaluation of primary congenital glaucoma in Kuwait. Am J Ophthalmol 2006;141:512-6. (Pubitemid 43265956)
-
(2006)
American Journal of Ophthalmology
, vol.141
, Issue.3
, pp. 512-516
-
-
Alfadhli, S.1
Behbehani, A.2
Elshafey, A.3
Abdelmoaty, S.4
Al-Awadi, S.5
-
51
-
-
17344362827
-
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia
-
DOI 10.1086/301725
-
Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, et al. Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet 1998;62:325-33. (Pubitemid 28110775)
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.2
, pp. 325-333
-
-
Bejjani, B.A.1
Lewis, R.A.2
Tomey, K.F.3
Anderson, K.L.4
Dueker, D.K.5
Jabak, M.6
Astle, W.F.7
Otterud, B.8
Leppert, M.9
Lupski, J.R.10
-
52
-
-
1442283865
-
Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil
-
Sena DF, Finzi S, Rodgers K, Del Bono E, Haines JL, Wiggs JL. Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil. J Med Genet 2004;41:e6.
-
(2004)
J Med Genet
, vol.41
-
-
Sena, D.F.1
Finzi, S.2
Rodgers, K.3
Del Bono, E.4
Haines, J.L.5
Wiggs, J.L.6
-
54
-
-
1942486803
-
Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador
-
DOI 10.1076/opge.25.1.3.28999
-
Curry SM, Daou AG, Hermanns P, Molinari A, Lewis RA, Bejjani BA. Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. Ophthal Genet 2004;25:3-9. (Pubitemid 38526524)
-
(2004)
Ophthalmic Genetics
, vol.25
, Issue.1
, pp. 3-9
-
-
Curry, S.M.1
Daou, A.G.2
Hermanns, P.3
Molinari, A.4
Lewis, R.A.5
Bejjani, B.A.6
-
55
-
-
33846242906
-
Molecular analysis of the CYP1B1 gene: Identification of novel truncating mutations in patients with primary congenital glaucoma
-
Messina-Baas OM, Gonzlez-Huerta LM, Chima-Galn C, Kofman-Alfaro SH, Rivera-Vega MR, Babayn-Mena I, et al. Molecular analysis of the CYP1B1 gene: Identification of novel truncating mutations in patients with primary congenital glaucoma. Ophthal Res 2007;39:17-23.
-
(2007)
Ophthal Res
, vol.39
, pp. 17-23
-
-
Messina-Baas Om, G.1
-
56
-
-
33846282732
-
A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG)
-
DOI 10.1097/01.ijg.0000212288.00917.e1, PII 0006119820070100000018
-
El-Ashry MF, Abd El-Aziz MM, Bhattacharya SS. A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG). J Glaucoma 2007;16:104-11. (Pubitemid 46114783)
-
(2007)
Journal of Glaucoma
, vol.16
, Issue.1
, pp. 104-111
-
-
El-Ashry, M.F.1
Abd El-Aziz, M.M.2
Bhattacharya, S.S.3
-
57
-
-
38549084181
-
Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes
-
DOI 10.1167/iovs.07-0629
-
Chakrabarti S, Devi KR, Komatireddy S, Kaur K, Parikh RS, Mandal AK, et al. Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes. Invest Ophthalmol Vis Sci 2007;48:5439-44. (Pubitemid 351260842)
-
(2007)
Investigative Ophthalmology and Visual Science
, vol.48
, Issue.12
, pp. 5439-5444
-
-
Chakrabarti, S.1
Devi, K.R.2
Komatireddy, S.3
Kaur, K.4
Parikh, R.S.5
Mandal, A.K.6
Chandrasekhar, G.7
Thomas, R.8
-
58
-
-
0036157114
-
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene
-
DOI 10.1086/338709
-
Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G, et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet 2002;70:448-60. (Pubitemid 34112298)
-
(2002)
American Journal of Human Genetics
, vol.70
, Issue.2
, 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
-
59
-
-
15844415263
-
Myocilin gene implicated in primary congenital glaucoma
-
DOI 10.1111/j.1399-0004.2005.00411.x
-
Kaur K, Reddy AB, Mukhopadhyay A, Mandal AK, Hasnain SE, Ray K, et al. Myocilin gene implicated in primary congenital glaucoma. Clin Genet 2005;67:335-40. (Pubitemid 40424830)
-
(2005)
Clinical Genetics
, vol.67
, Issue.4
, pp. 335-340
-
-
Kaur, K.1
Reddy, A.B.M.2
Mukhopadhyay, A.3
Mandal, A.K.4
Hasnain, S.E.5
Ray, K.6
Thomas, R.7
Balasubramanian, D.8
Chakrabarti, S.9
-
60
-
-
33645976785
-
Of mice and men: Tyrosinase modification of congenital glaucoma in mice but not in humans
-
DOI 10.1167/iovs.05-0763
-
Bidinost C, Hernandez N, Edward DP, Al-Rajhi A, Lewis RA, Lupski JR, et al. Of mice and men: Tyrosinase modification of congenital glaucoma in mice but not in humans. Invest Ophthalmol Vis Sci 2006;47:1486-90. (Pubitemid 46780756)
-
(2006)
Investigative Ophthalmology and Visual Science
, vol.47
, Issue.4
, pp. 1486-1490
-
-
Bidinost, C.1
Hernandez, N.2
Edward, D.P.3
Al-Rajhi, A.4
Lewis, R.A.5
Lupski, J.R.6
Stockton, D.W.7
Bejjani, B.A.8
-
61
-
-
33947711740
-
Genotype and phenotype correlations in congenital glaucoma
-
Hollander DA, Sarfarazi M, Stoilov I, Wood IS, Fredrick DR, Alvarado JA. Genotype and phenotype correlations in congenital glaucoma. Trans Am Ophthalmol Soc 2006;104:183-95.
-
(2006)
Trans Am Ophthalmol Soc
, vol.104
, pp. 183-95
-
-
Hollander, D.A.1
Sarfarazi, M.2
Stoilov, I.3
Wood, I.S.4
Fredrick, D.R.5
Alvarado, J.A.6
-
62
-
-
33845416859
-
Disease-causing mutations in proteins: Structural analysis of the CYP1b1 mutations causing primary congenital glaucoma in humans
-
DOI 10.1529/biophysj.106.085498
-
Achary MS, Reddy AB, Chakrabarti S, Panicker SG, Mandal AK, Ahmed N, et al. Disease-causing mutations in proteins: Structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans. Biophys J 2006;91:4329-39. (Pubitemid 44904221)
-
(2006)
Biophysical Journal
, vol.91
, Issue.12
, pp. 4329-4339
-
-
Achary, M.S.1
Reddy, A.B.M.2
Chakrabarti, S.3
Panicker, S.G.4
Mandal, A.K.5
Ahmed, N.6
Balasubramanian, D.7
Hasnain, S.E.8
Nagarajaram, H.A.9
-
63
-
-
0035217151
-
Effect of two mutations of human CYP1B1, G61e and R469W, on stability and endogenous steroid substrate metabolism
-
DOI 10.1097/00008571-200112000-00007
-
Jansson I, Stoilov I, Sarfarazi M, Schenkman JB. Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism. Pharmacogenetics 2001;11:793-801. (Pubitemid 33151514)
-
(2001)
Pharmacogenetics
, vol.11
, Issue.9
, pp. 793-801
-
-
Jansson, I.1
Stoilov, I.2
Sarfarazi, M.3
Schenkman, J.B.4
-
64
-
-
0037225752
-
Study of P450 function using gene knockout and transgenic mice
-
DOI 10.1016/S0003-9861(02)00364-8, PII S0003986102003648
-
Gonzalez FJ, Kimura S. Study of P450 function using gene knockout and transgenic mice. Arch Biochem Biophys 2003;409:153-8. (Pubitemid 36042911)
-
(2003)
Archives of Biochemistry and Biophysics
, vol.409
, Issue.1
, pp. 153-158
-
-
Gonzalez, F.J.1
Kimura, S.2
-
65
-
-
33747088964
-
Cambios estructurales del ángulo de la cámara anterior en el glaucoma congénito. Comparación con el desarrollo normal
-
Rojas B, Ramrez AI, de-Hoz R, Salazar JJ, Remrez JM, Triviño A. Structural changes of the anterior chamber angle in primary congenital glaucoma with respect to normal development. Arch Soc Esp Oftalmol 2006;81:65-71. (Pubitemid 44760035)
-
(2006)
Archivos de la Sociedad Espanola de Oftalmologia
, vol.81
, Issue.2
, pp. 65-71
-
-
Rojas, B.1
Ramirez, A.I.2
De-Hoz, R.3
Salazar, J.J.4
Ramirez, J.M.5
Trivino Casado, A.6
-
66
-
-
15244363953
-
Primary congenital glaucoma presenting within the first three months of life in a Bedouin population: Prognostic factors
-
DOI 10.1097/01.ijg.0000151685.12033.04
-
Levy J, Carmi R, Rosen S, Lifshitz T. Primary congenital glaucoma presenting within the first three months of life in a Bedouin population: Prognostic factors. J Glaucoma 2005;14:139-44. (Pubitemid 40389183)
-
(2005)
Journal of Glaucoma
, vol.14
, Issue.2
, pp. 139-144
-
-
Levy, J.1
Carmi, R.2
Rosen, S.3
Lifshitz, T.4
-
67
-
-
58249091541
-
The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma
-
Chakrabarti S, Kaur K, Rao KN, Mandal AK, Kaur I, Parikh RS, et al. The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma. Invest Ophthalmol Vis Sci 2009;50:75-83.
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, pp. 75-83
-
-
Chakrabarti, S.1
Kaur, K.2
Rao, K.N.3
Mandal, A.K.4
Kaur, I.5
Parikh, R.S.6
-
68
-
-
65149084930
-
Null mutations in LTBP2 cause primary congenital glaucoma
-
Ali M, McKibbin M, Booth A, Parry DA, Jain P, Riazuddin SA, et al. Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet 2009;84:664-71.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 664-71
-
-
Ali, M.1
McKibbin, M.2
Booth, A.3
Parry, D.A.4
Jain, P.5
Riazuddin, S.A.6
|