-
1
-
-
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
-
A. Gencik 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 16 1989 76 115
-
(1989)
Dev Ophthalmol
, vol.16
, pp. 76-115
-
-
Gencik, A.1
-
2
-
-
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
-
B.A. Bejjani, D.W. Stockton, R.A. Lewis 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 9 2000 367 374
-
(2000)
Hum Mol Genet
, vol.9
, pp. 367-374
-
-
Bejjani, B.A.1
Stockton, D.W.2
Lewis, R.A.3
-
4
-
-
0032539587
-
Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain
-
E. Bermejo, M.L. Martinez-Frias Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain Am J Med Genet 75 1998 497 504
-
(1998)
Am J Med Genet
, vol.75
, pp. 497-504
-
-
Bermejo, E.1
Martinez-Frias, M.L.2
-
5
-
-
65149084930
-
Null mutations in LTBP2 cause primary congenital glaucoma
-
M. Ali, M. McKibbin, A. Booth Null mutations in LTBP2 cause primary congenital glaucoma Am J Hum Genet 84 2009 664 671
-
(2009)
Am J Hum Genet
, vol.84
, pp. 664-671
-
-
Ali, M.1
McKibbin, M.2
Booth, A.3
-
6
-
-
70349578331
-
Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma
-
M. Narooie-Nejad, S.H. Paylakhi, S. Shojaee Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma Hum Mol Genet 18 2009 3969 3977
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3969-3977
-
-
Narooie-Nejad, M.1
Paylakhi, S.H.2
Shojaee, S.3
-
7
-
-
79951809419
-
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population
-
D.N. Azmanov, S. Dimitrova, L. Florez LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population Eur J Hum Genet 19 2011 326 333
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 326-333
-
-
Azmanov, D.N.1
Dimitrova, S.2
Florez, L.3
-
8
-
-
25444472655
-
Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India
-
Accessed August 29, 2012
-
S. Chakrabarti, K. Kaur, S. Komatireddy Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India Mol Vis [serial online] 11 2005 111 113 http://www.molvis. org/molvis/v11/a12/ Accessed August 29, 2012
-
(2005)
Mol Vis [Serial Online]
, vol.11
, pp. 111-113
-
-
Chakrabarti, S.1
Kaur, K.2
Komatireddy, S.3
-
9
-
-
15844415263
-
Myocilin gene implicated in primary congenital glaucoma
-
K. Kaur, A.B. Reddy, A. Mukhopadhyay Myocilin gene implicated in primary congenital glaucoma Clin Genet 67 2005 335 340
-
(2005)
Clin Genet
, vol.67
, pp. 335-340
-
-
Kaur, K.1
Reddy, A.B.2
Mukhopadhyay, A.3
-
10
-
-
58249091541
-
The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma
-
S. Chakrabarti, K. Kaur, K.N. Rao The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma Invest Ophthalmol Vis Sci 50 2009 75 83
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, pp. 75-83
-
-
Chakrabarti, S.1
Kaur, K.2
Rao, K.N.3
-
11
-
-
34548309440
-
Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations
-
Accessed August 29, 2012
-
S. Bagiyeva, G. Marfany, O. Gonzalez-Angulo, R. Gonzalez-Duarte Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations Mol Vis [serial online] 13 2007 1458 1468 http://www.molvis.org/molvis/v13/a162/ Accessed August 29, 2012
-
(2007)
Mol Vis [Serial Online]
, vol.13
, pp. 1458-1468
-
-
Bagiyeva, S.1
Marfany, G.2
Gonzalez-Angulo, O.3
Gonzalez-Duarte, R.4
-
12
-
-
0035217151
-
Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism
-
I. Jansson, I. Stoilov, M. Sarfarazi, J.B. Schenkman Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism Pharmacogenetics 11 2001 793 801
-
(2001)
Pharmacogenetics
, vol.11
, pp. 793-801
-
-
Jansson, I.1
Stoilov, I.2
Sarfarazi, M.3
Schenkman, J.B.4
-
13
-
-
51549085464
-
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme
-
G. Chavarria-Soley, H. Sticht, E. Aklillu Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme Hum Mutat 29 2008 1147 1153
-
(2008)
Hum Mutat
, vol.29
, pp. 1147-1153
-
-
Chavarria-Soley, G.1
Sticht, H.2
Aklillu, E.3
-
14
-
-
55749105894
-
Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma
-
D. Choudhary, I. Jansson, M. Sarfarazi, J.B. Schenkman Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma Pharmacogenet Genomics 18 2008 665 676
-
(2008)
Pharmacogenet Genomics
, vol.18
, pp. 665-676
-
-
Choudhary, D.1
Jansson, I.2
Sarfarazi, M.3
Schenkman, J.B.4
-
15
-
-
61849142774
-
CYP1B1 gene mutations in Spanish patients with primary congenital glaucoma: Phenotypic and functional variability
-
Accessed August 29, 2012
-
E. Campos-Mollo, M.P. Lopez-Garrido, C. Blanco-Marchite CYP1B1 gene mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability Mol Vis [serial online] 15 2009 417 431 http://www.molvis.org/molvis/v15/a42/ Accessed August 29, 2012
-
(2009)
Mol Vis [Serial Online]
, vol.15
, pp. 417-431
-
-
Campos-Mollo, E.1
Lopez-Garrido, M.P.2
Blanco-Marchite, C.3
-
16
-
-
0037423886
-
Modification of ocular defects in mouse developmental glaucoma models by tyrosinase
-
R.T. Libby, R.S. Smith, O.V. Savinova Modification of ocular defects in mouse developmental glaucoma models by tyrosinase Science 299 2003 1578 1581
-
(2003)
Science
, vol.299
, pp. 1578-1581
-
-
Libby, R.T.1
Smith, R.S.2
Savinova, O.V.3
-
17
-
-
33645860816
-
Primary role of CYP1B1 in Indian juvenile-onset POAG patients
-
Accessed August 29, 2012
-
M. Acharya, S. Mookherjee, A. Bhattacharjee Primary role of CYP1B1 in Indian juvenile-onset POAG patients Mol Vis [serial online] 12 2006 399 404 http://www.molvis.org/molvis/v12/a46/ Accessed August 29, 2012
-
(2006)
Mol Vis [Serial Online]
, vol.12
, pp. 399-404
-
-
Acharya, M.1
Mookherjee, S.2
Bhattacharjee, A.3
-
18
-
-
4444315011
-
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma
-
R. Melki, E. Colomb, N. Lefort CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma J Med Genet 41 2004 647 651
-
(2004)
J Med Genet
, vol.41
, pp. 647-651
-
-
Melki, R.1
Colomb, E.2
Lefort, N.3
-
19
-
-
33745925304
-
Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma
-
Accessed August 29, 2012
-
M.P. López-Garrido, F. Sanchez-Sanchez, F. López- Martínez Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma Mol Vis [serial online] 12 2006 748 755 http://www.molvis.org/molvis/v12/a84/ Accessed August 29, 2012
-
(2006)
Mol Vis [Serial Online]
, vol.12
, pp. 748-755
-
-
López-Garrido, M.P.1
Sanchez-Sanchez, F.2
López-Martínez, F.3
-
20
-
-
20444371356
-
Myocilin mutations causing glaucoma inhibit the intracellular endoproteolytic cleavage of myocilin between amino acids Arg226 and Ile227
-
J.D. Aroca-Aguilar, F. Sanchez-Sanchez, S. Ghosh Myocilin mutations causing glaucoma inhibit the intracellular endoproteolytic cleavage of myocilin between amino acids Arg226 and Ile227 J Biol Chem 280 2005 21043 21051
-
(2005)
J Biol Chem
, vol.280
, pp. 21043-21051
-
-
Aroca-Aguilar, J.D.1
Sanchez-Sanchez, F.2
Ghosh, S.3
-
21
-
-
0027943307
-
Simultaneous measurement of cytochrome P4501A catalytic activity and total protein concentration with a fluorescence plate reader
-
S.W. Kennedy, S.P. Jones Simultaneous measurement of cytochrome P4501A catalytic activity and total protein concentration with a fluorescence plate reader Anal Biochem 222 1994 217 223
-
(1994)
Anal Biochem
, vol.222
, pp. 217-223
-
-
Kennedy, S.W.1
Jones, S.P.2
-
22
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
P. Kumar, S. Henikoff, P.C. Ng Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm Nat Protoc 4 2009 1073 1081
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
23
-
-
0028276386
-
Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2
-
T.R. Sutter, Y.M. Tang, C.L. Hayes Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2 J Biol Chem 269 1994 13092 13099
-
(1994)
J Biol Chem
, vol.269
, pp. 13092-13099
-
-
Sutter, T.R.1
Tang, Y.M.2
Hayes, C.L.3
-
24
-
-
84873711196
-
Molecular analysis of Italian patients with congenital glaucoma
-
[Epub ahead of print]
-
I. Giuffre' Molecular analysis of Italian patients with congenital glaucoma Ophthalmic Genet 2011 Aug 4 [Epub ahead of print]
-
(2011)
Ophthalmic Genet
-
-
Giuffre, I.1
-
25
-
-
34047256282
-
Association of CYP1B1 germ line mutations with hepatocyte nuclear factor 1alpha-mutated hepatocellular adenoma
-
E. Jeannot, K. Poussin, L. Chiche Association of CYP1B1 germ line mutations with hepatocyte nuclear factor 1alpha-mutated hepatocellular adenoma Cancer Res 67 2007 2611 2616
-
(2007)
Cancer Res
, vol.67
, pp. 2611-2616
-
-
Jeannot, E.1
Poussin, K.2
Chiche, L.3
-
26
-
-
73049105367
-
Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma
-
M.P. Lopez-Garrido, C. Blanco-Marchite, F. Sanchez-Sanchez Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma Clin Genet 77 2010 70 78
-
(2010)
Clin Genet
, vol.77
, pp. 70-78
-
-
Lopez-Garrido, M.P.1
Blanco-Marchite, C.2
Sanchez-Sanchez, F.3
-
27
-
-
75749114183
-
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma
-
F. Pasutto, G. Chavarria-Soley, C.Y. Mardin Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma Invest Ophthalmol Vis Sci 51 2010 249 254
-
(2010)
Invest Ophthalmol Vis Sci
, vol.51
, pp. 249-254
-
-
Pasutto, F.1
Chavarria-Soley, G.2
Mardin, C.Y.3
-
28
-
-
0036821466
-
A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco
-
A. Belmouden, R. Melki, M. Hamdani A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco Clin Genet 62 2002 334 339
-
(2002)
Clin Genet
, vol.62
, pp. 334-339
-
-
Belmouden, A.1
Melki, R.2
Hamdani, M.3
-
29
-
-
1942522732
-
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France
-
E. Colomb, J. Kaplan, H.J. Garchon Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France Hum Mutat 22 2003 496
-
(2003)
Hum Mutat
, vol.22
, pp. 496
-
-
Colomb, E.1
Kaplan, J.2
Garchon, H.J.3
-
30
-
-
1642602458
-
Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: A step towards preventing glaucoma related blindness
-
S.N. Martin, J. Sutherland, A.V. Levin Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness J Med Genet 37 2000 422 427
-
(2000)
J Med Genet
, vol.37
, pp. 422-427
-
-
Martin, S.N.1
Sutherland, J.2
Levin, A.V.3
-
31
-
-
18344398251
-
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients [report online]
-
Accessed August 29, 2012
-
R. Sitorus, S.M. Ardjo, B. Lorenz, M. Preising CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients [report online] J Med Genet 40 2003 e9 http://jmg.bmj.com/content/40/1/e9.full.pdf+html Accessed August 29, 2012
-
(2003)
J Med Genet
, vol.40
, pp. 9
-
-
Sitorus, R.1
Ardjo, S.M.2
Lorenz, B.3
Preising, M.4
-
32
-
-
34548138898
-
Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma
-
D.P. Dimasi, A.W. Hewitt, T. Straga Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma Clin Genet 72 2007 255 260
-
(2007)
Clin Genet
, vol.72
, pp. 255-260
-
-
Dimasi, D.P.1
Hewitt, A.W.2
Straga, T.3
-
33
-
-
62649111045
-
A clinical and molecular genetic study of German patients with primary congenital glaucoma
-
N. Weisschuh, C. Wolf, B. Wissinger, E. Gramer A clinical and molecular genetic study of German patients with primary congenital glaucoma Am J Ophthalmol 147 2009 744 753
-
(2009)
Am J Ophthalmol
, vol.147
, pp. 744-753
-
-
Weisschuh, N.1
Wolf, C.2
Wissinger, B.3
Gramer, E.4
-
34
-
-
33646892373
-
Primary congenital glaucoma and Rieger's anomaly: Extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations
-
Accessed August 29, 2012
-
G. Chavarria-Soley, K. Michels-Rautenstrauss, F. Pasutto Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations Mol Vis [serial online] 12 2006 523 531 http://www.molvis.org/molvis/v12/a62/ Accessed August 29, 2012
-
(2006)
Mol Vis [Serial Online]
, vol.12
, pp. 523-531
-
-
Chavarria-Soley, G.1
Michels-Rautenstrauss, K.2
Pasutto, F.3
-
35
-
-
0034865641
-
Primary congenital glaucoma: Three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene
-
K.G. Michels-Rautenstrauss, C.Y. Mardin, M. Zenker Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene J Glaucoma 10 2001 354 357
-
(2001)
J Glaucoma
, vol.10
, pp. 354-357
-
-
Michels-Rautenstrauss, K.G.1
Mardin, C.Y.2
Zenker, M.3
-
36
-
-
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
-
I. Stoilov, A.N. Akarsu, I. Alozie 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 1998 573 584
-
(1998)
Am J Hum Genet
, vol.62
, pp. 573-584
-
-
Stoilov, I.1
Akarsu, A.N.2
Alozie, I.3
-
37
-
-
2442723700
-
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
-
M. Plasilova, I. Stoilov, M. Sarfarazi Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma J Med Genet 36 1999 290 294
-
(1999)
J Med Genet
, vol.36
, pp. 290-294
-
-
Plasilova, M.1
Stoilov, I.2
Sarfarazi, M.3
-
38
-
-
81355127651
-
Overview of cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma
-
N. Li, Y. Zhou, L. Du Overview of cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma Exp Eye Res 93 2011 572 579
-
(2011)
Exp Eye Res
, vol.93
, pp. 572-579
-
-
Li, N.1
Zhou, Y.2
Du, L.3
-
39
-
-
0029781481
-
Structural alignments of P450s and extrapolations to the unknown
-
S.E. Graham-Lorence, J.A. Peterson Structural alignments of P450s and extrapolations to the unknown Methods Enzymol 272 1996 315 326
-
(1996)
Methods Enzymol
, vol.272
, pp. 315-326
-
-
Graham-Lorence, S.E.1
Peterson, J.A.2
-
40
-
-
64749099749
-
Role of 5'- and 3'-untranslated regions of mRNAs in human diseases
-
S. Chatterjee, J.K. Pal Role of 5'- and 3'-untranslated regions of mRNAs in human diseases Biol Cell 101 2009 251 262
-
(2009)
Biol Cell
, vol.101
, pp. 251-262
-
-
Chatterjee, S.1
Pal, J.K.2
-
41
-
-
70349580795
-
Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma
-
F. Suri, S. Yazdani, M. Narooie-Nejhad Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma Ophthalmology 116 2009 2101 2109
-
(2009)
Ophthalmology
, vol.116
, pp. 2101-2109
-
-
Suri, F.1
Yazdani, S.2
Narooie-Nejhad, M.3
|