-
1
-
-
4644299672
-
Primary congenital glaucoma: 2004 update
-
88; quiz 300-301
-
Ho CL, Walton DS. Primary congenital glaucoma: 2004 update. J Pediatr Ophthalmol Strabismus 2004;41(5):271,88; quiz 300-301.
-
(2004)
J Pediatr Ophthalmol Strabismus
, vol.41
, Issue.5
, pp. 271
-
-
Ho, C.L.1
Walton, D.S.2
-
2
-
-
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 P4501B1 (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(4):641-647. (Pubitemid 27142117)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.4
, pp. 641-647
-
-
Stoilov, I.1
Akarsu, A.N.2
Sarfarazi, M.3
-
3
-
-
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, 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(2):325-333. (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
-
5
-
-
70349580795
-
Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma
-
Suri F, Yazdani S, Narooie-Nejhad M, et al. Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma. Ophthalmology 2009;116:2101-2109.
-
(2009)
Ophthalmology
, vol.116
, pp. 2101-2109
-
-
Suri, F.1
Yazdani, S.2
Narooie-Nejhad, M.3
-
6
-
-
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, 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;9(3):367-374. (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
-
7
-
-
65149084930
-
Null mutations in LTBP2 cause primary congenital glaucoma
-
Ali M, McKibbin M, Booth A, et al. Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet. 2009;84(5):664-671.
-
(2009)
Am J Hum Genet
, vol.84
, Issue.5
, pp. 664-671
-
-
Ali, M.1
McKibbin, M.2
Booth, A.3
-
8
-
-
0021798873
-
Axenfeld-Rieger syndrome. A spectrum of developmental disorders
-
DOI 10.1016/0039-6257(85)90205-X
-
Shields MB, Buckley E, Klintworth GK, et al. Axenfeld-Rieger syndrome. A spectrum of developmental disorders. Surv Ophthalmol. 1985;29(6):387-409. (Pubitemid 15040348)
-
(1985)
Survey of Ophthalmology
, vol.29
, Issue.6
, pp. 387-409
-
-
Shields, M.B.1
Buckley, E.2
Klintworth, G.K.3
Thresher, R.4
-
9
-
-
0033834486
-
Axenfeld-Rieger syndrome in the age of molecular genetics
-
Alward WL. Axenfeld-Rieger syndrome in the age of molecular genetics. Am J Ophthalmol. 2000;130(1):107-115.
-
(2000)
Am J Ophthalmol
, vol.130
, Issue.1
, pp. 107-115
-
-
Alward, W.L.1
-
10
-
-
28744453057
-
Newborn primary congenital glaucoma: 2005 update
-
41; quiz 365-366
-
Walton DS, Katsavounidou G. Newborn primary congenital glaucoma: 2005 update. J Pediatr Ophthalmol Strabismus 2005;42(6):333,41; quiz 365-366.
-
(2005)
J Pediatr Ophthalmol Strabismus
, vol.42
, Issue.6
, pp. 333
-
-
Walton, D.S.1
Katsavounidou, G.2
-
11
-
-
63749085792
-
Allelic heterogeneity in inbred populations: The Saudi experience with Alstrom syndrome as an illustrative example
-
Aldahmesh MA, Abu-Safieh L, Khan AO, et al. Allelic heterogeneity in inbred populations: The Saudi experience with Alstrom syndrome as an illustrative example. Am J Med Genet A 2009;149A(4):662-665.
-
(2009)
Am J Med Genet A
, vol.149
, Issue.4
, pp. 662-665
-
-
Aldahmesh, M.A.1
Abu-Safieh, L.2
Khan, A.O.3
-
13
-
-
0021877686
-
Primary glaucoma associated with iridotrabecular dysgenesis and ectropion uveae
-
Dowling JL, Jr, Albert DM, Nelson LB, et al. Primary glaucoma associated with iridotrabecular dysgenesis and ectropion uveae. Ophthalmology 1985;92(7):912-921. (Pubitemid 15003396)
-
(1985)
Ophthalmology
, vol.92
, Issue.7
, pp. 912-921
-
-
Dowling Jr., J.L.1
Albert, D.M.2
Nelson, L.B.3
Walton, D.S.4
-
14
-
-
0025189563
-
Congenital iris ectropion and a new classification for anterior segment dysgenesis
-
Wilson ME. Congenital iris ectropion and a new classification for anterior segment dysgenesis. J Pediatr Ophthalmol Strabismus 1990;27(1):48-55. (Pubitemid 20066434)
-
(1990)
Journal of Pediatric Ophthalmology and Strabismus
, vol.27
, Issue.1
, pp. 48-55
-
-
Wilson, M.E.1
-
16
-
-
31444445106
-
Bilateral juvenile glaucoma with iridotrabecular dysgenesis, congenital ectropion uveae, and thickened corneal nerves [7]
-
DOI 10.1038/sj.eye.6701782, PII 6701782
-
Sethi HS, Pal N, Dada T. Bilateral juvenile glaucoma with iridotrabecular dysgenesis, congenital ectropion uveae, and thickened corneal nerves. Eye (Lond) 2005;19(12):1347-1349. (Pubitemid 43148519)
-
(2005)
Eye
, vol.19
, Issue.12
, pp. 1347-1349
-
-
Sethi, H.S.1
Pal, N.2
Dada, T.3
-
17
-
-
32644462189
-
Congenital ectropion uveae and glaucoma
-
DOI 10.1001/archopht.124.2.271
-
Harasymowycz PJ, Papamatheakis DG, Eagle RC, Jr, et al. Congenital ectropion uveae and glaucoma. Arch Ophthalmol 2006;124(2):271-273. (Pubitemid 43247080)
-
(2006)
Archives of Ophthalmology
, vol.124
, Issue.2
, pp. 271-273
-
-
Harasymowycz, P.J.1
Papamatheakis, D.G.2
Eagle Jr., R.C.3
Wilson, R.P.4
-
18
-
-
33646237384
-
Congenital iris ectropion as an indicator of variant aniridia
-
Willcock C, Grigg J, Wilson M, et al. Congenital iris ectropion as an indicator of variant aniridia. Br J Ophthalmol 2006;90(5):658-569.
-
(2006)
Br J Ophthalmol
, vol.90
, Issue.5
, pp. 658-569
-
-
Willcock, C.1
Grigg, J.2
Wilson, M.3
-
19
-
-
68349093935
-
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia
-
Ito YA, Footz TK, Berry FB, et al. Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. Invest Ophthalmol Vis Sci 2009;50(8):3573-3579.
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, Issue.8
, pp. 3573-3579
-
-
Ito, Y.A.1
Footz, T.K.2
Berry, F.B.3
-
20
-
-
45849139386
-
Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother
-
DOI 10.1080/13816810801908152, PII 793182326
-
Khan AO, Aldahmesh MA, Al-Amri A. Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother. Ophthalmic Genet. 2008;29(2):67-71. (Pubitemid 351882310)
-
(2008)
Ophthalmic Genetics
, vol.29
, Issue.2
, pp. 67-71
-
-
Khan, A.O.1
Aldahmesh, M.A.2
Al-Amri, A.3
-
21
-
-
12344300314
-
Molecular basis of Peters anomaly in Saudi Arabia
-
DOI 10.1080/13816810490902648
-
Edward D, Al Rajhi A, Lewis RA, et al. Molecular basis of Peters anomaly in Saudi Arabia. Ophthalmic Genet. 2004;25(4):257-270. (Pubitemid 40127794)
-
(2004)
Ophthalmic Genetics
, vol.25
, Issue.4
, pp. 257-270
-
-
Edward, D.P.1
Al Rajhi, A.2
Lewis, R.A.3
Curry, S.A.4
Wang, Z.5
Bejjani, B.A.6
-
22
-
-
80051745286
-
Further support of the role of CYP1B1 in patients with Peters anomaly
-
Vincent A, Billingsley G, Priston M, et al. Further support of the role of CYP1B1 in patients with Peters anomaly. Mol Vis. 2006;12506-12510.
-
(2006)
Mol Vis
, pp. 12506-12510
-
-
Vincent, A.1
Billingsley, G.2
Priston, M.3
-
23
-
-
0035039383
-
Phenotypic heterogeneity of CYP1B1: Mutations in a patient with Peters' anomaly [2]
-
Vincent A, Billingsley G, Priston M, et al. Phenotypic heterogeneity of CYP1B1: Mutations in a patient with Peters anomaly. J Med Genet. 2001;38(5):324-326. (Pubitemid 32433987)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.5
, pp. 324-326
-
-
Vincent, A.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
Heon, E.11
-
24
-
-
18344398251
-
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients
-
Sitorus R, Ardjo SM, Lorenz B, et al. CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients. J Med Genet. 2003;40(1):e9.
-
(2003)
J Med Genet
, vol.40
, Issue.1
-
-
Sitorus, R.1
Ardjo, S.M.2
Lorenz, B.3
-
25
-
-
33751065707
-
Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD)
-
DOI 10.1097/01.ijg.0000243467.28590.6a, PII 0006119820061200000005
-
Chavarria-Soley G, Michels-Rautenstrauss K, Caliebe A, et al. Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD). J Glaucoma 2006;15(6):499-504. (Pubitemid 44760323)
-
(2006)
Journal of Glaucoma
, vol.15
, Issue.6
, pp. 499-504
-
-
Chavarria-Soley, G.1
Michels-Rautenstrauss, K.2
Caliebe, A.3
Kautza, M.4
Mardin, C.5
Rautenstrauss, B.6
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