-
1
-
-
0348225298
-
Genetics and biochemistry of primary congenital glaucoma
-
[PMID: 14740995]vi
-
Sarfarazi M, Stoilov I, Schenkman JB. Genetics and biochemistry of primary congenital glaucoma. Ophthalmol Clin North Am 2003; 16:543-54. [PMID: 14740995]vi.
-
(2003)
Ophthalmol Clin North Am
, vol.16
, pp. 543-554
-
-
Sarfarazi, M.1
Stoilov, I.2
Schenkman, J.B.3
-
2
-
-
0028279517
-
Genetic clues to glaucoma's secrets. The L Edward Jackson Memorial Lecture. Part 2
-
[PMID: 8198155]
-
Lichter PR. Genetic clues to glaucoma's secrets. The L Edward Jackson Memorial Lecture. Part 2. Am J Ophthalmol 1994; 117:706-27. [PMID: 8198155]
-
(1994)
Am J Ophthalmol
, vol.117
, pp. 706-727
-
-
Lichter, P.R.1
-
3
-
-
0029960403
-
A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenileonset open angle glaucoma
-
[PMID: 8946299]
-
Anderson KL, Lewis RA, Bejjani BA, Baird L, Otterud B, Tomey KF, Astle WF, Dueker DK, Leppert M, Lupski JR. A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenileonset open angle glaucoma. J Glaucoma 1996; 5:416-21. [PMID: 8946299]
-
(1996)
J Glaucoma
, vol.5
, pp. 416-421
-
-
Anderson, K.L.1
Lewis, R.A.2
Bejjani, B.A.3
Baird, L.4
Otterud, B.5
Tomey, K.F.6
Astle, W.F.7
Dueker, D.K.8
Leppert, M.9
Lupski, J.R.10
-
4
-
-
33644745006
-
Glaucoma in children: Are we making progress?
-
[PMID: 16527674]
-
Biglan AW. Glaucoma in children: are we making progress? J AAPOS 2006; 10:7-21. [PMID: 16527674]
-
(2006)
J AAPOS
, vol.10
, pp. 7-21
-
-
Biglan, A.W.1
-
5
-
-
0020592326
-
Primary infantile glaucoma (congenital glaucoma)
-
[PMID: 6353647]
-
deLuise VP, Anderson DR. Primary infantile glaucoma (congenital glaucoma). Surv Ophthalmol 1983; 28:1-19. [PMID: 6353647]
-
(1983)
Surv Ophthalmol
, vol.28
, pp. 1-19
-
-
deLuise, V.P.1
Anderson, D.R.2
-
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
-
[PMID: 10655546]
-
Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR. 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; 9:367-74. [PMID: 10655546]
-
(2000)
Hum Mol Genet
, vol.9
, 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
-
-
79953065240
-
Primary Congenital Glaucoma and the Involvement of CYP1B1
-
[PMID: 21572728]
-
Kaur K, Mandal AK, Chakrabarti S. Primary Congenital Glaucoma and the Involvement of CYP1B1. Middle East Afr J Ophthalmol 2011; 18:7-16. [PMID: 21572728]
-
(2011)
Middle East Afr J Ophthalmol
, vol.18
, pp. 7-16
-
-
Kaur, K.1
Mandal, A.K.2
Chakrabarti, S.3
-
8
-
-
17344362827
-
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia
-
[PMID: 9463332]
-
Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Otterud B, Leppert M, Lupski JR. 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. [PMID: 9463332]
-
(1998)
Am J Hum Genet
, vol.62
, 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
-
9
-
-
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
-
[PMID: 2676634]
-
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. [PMID: 2676634]
-
(1989)
Dev Ophthalmol
, vol.16
, pp. 76-115
-
-
Gencik, A.1
-
10
-
-
0019936088
-
Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset
-
[PMID: 7173860]
-
Genĉîk A, Gencikova A, Ferak V. Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset. Hum Genet 1982; 61:193-7. [PMID: 7173860]
-
(1982)
Hum Genet
, vol.61
, pp. 193-197
-
-
Genĉîk, A.1
Gencikova, A.2
Ferak, V.3
-
11
-
-
0032040349
-
Populationbased assessment of childhood blindness in southern India
-
[PMID: 9565065]
-
Dandona L, Williams JD, Williams BC, Rao GN. Populationbased assessment of childhood blindness in southern India. Arch Ophthalmol 1998; 116:545-6. [PMID: 9565065]
-
(1998)
Arch Ophthalmol
, vol.116
, pp. 545-546
-
-
Dandona, L.1
Williams, J.D.2
Williams, B.C.3
Rao, G.N.4
-
12
-
-
70349561108
-
CYP1B1, a developmental gene with a potential role in glaucoma therapy
-
[PMID: 19622003]
-
Choudhary D, Jansson I, Schenkman JB. CYP1B1, a developmental gene with a potential role in glaucoma therapy. Xenobiotica 2009; 39:606-15. [PMID: 19622003]
-
(2009)
Xenobiotica
, vol.39
, pp. 606-615
-
-
Choudhary, D.1
Jansson, I.2
Schenkman, J.B.3
-
13
-
-
65149084930
-
Null mutations in LTBP2 cause primary congenital glaucoma
-
[PMID: 19361779]
-
Ali M, McKibbin M, Booth A, Parry DA, Jain P, Riazuddin SA, Hejtmancik JF, Khan SN, Firasat S, Shires M, Gilmour DF, Towns K, Murphy AL, Azmanov D, Tournev I, Cherninkova S, Jafri H, Raashid Y, Toomes C, Craig J, Mackey DA, Kalaydjieva L, Riazuddin S, Inglehearn CF. Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet 2009; 84:664-71. [PMID: 19361779]
-
(2009)
Am J Hum Genet
, vol.84
, pp. 664-671
-
-
Ali, M.1
McKibbin, M.2
Booth, A.3
Parry, D.A.4
Jain, P.5
Riazuddin, S.A.6
Hejtmancik, J.F.7
Khan, S.N.8
Firasat, S.9
Shires, M.10
Gilmour, D.F.11
Towns, K.12
Murphy, A.L.13
Azmanov, D.14
Tournev, I.15
Cherninkova, S.16
Jafri, H.17
Raashid, Y.18
Toomes, C.19
Craig, J.20
Mackey, D.A.21
Kalaydjieva, L.22
Riazuddin, S.23
Inglehearn, C.F.24
more..
-
14
-
-
65149084930
-
Null mutations in LTBP2 cause primary congenital glaucoma
-
[PMID: 19361779]
-
Ali M, McKibbin M, Booth A, Parry DA, Jain P, Riazuddin SA, Hejtmancik JF, Khan SN, Firasat S, Shires M, Gilmour DF, Towns K, Murphy AL, Azmanov D, Tournev I, Cherninkova S, Jafri H, Raashid Y, Toomes C, Craig J, Mackey DA, Kalaydjieva L, Riazuddin S, Inglehearn CF. Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet 2009; 84:664-71. [PMID: 19361779]
-
(2009)
Am J Hum Genet
, vol.84
, pp. 664-671
-
-
Ali, M.1
McKibbin, M.2
Booth, A.3
Parry, D.A.4
Jain, P.5
Riazuddin, S.A.6
Hejtmancik, J.F.7
Khan, S.N.8
Firasat, S.9
Shires, M.10
Gilmour, D.F.11
Towns, K.12
Murphy, A.L.13
Azmanov, D.14
Tournev, I.15
Cherninkova, S.16
Jafri, H.17
Raashid, Y.18
Toomes, C.19
Craig, J.20
Mackey, D.A.21
Kalaydjieva, L.22
Riazuddin, S.23
Inglehearn, C.F.24
more..
-
15
-
-
0035869223
-
Prediction of deleterious human alleles
-
[PMID: 11230178]
-
Sunyaev S, Ramensky V, Koch I, Lathe W 3rd, Kondrashov AS, Bork P. Prediction of deleterious human alleles. Hum Mol Genet 2001; 10:591-7. [PMID: 11230178]
-
(2001)
Hum Mol Genet
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe III, W.4
Kondrashov, A.S.5
Bork, P.6
-
16
-
-
0025352849
-
Wound healing after excimer laser keratomileusis (photorefractive keratectomy) in monkeys
-
[PMID: 2334323]
-
Fantes FE, Hanna KD, Waring GO 3rd, Pouliquen Y, Thompson KP, Savoldelli M. Wound healing after excimer laser keratomileusis (photorefractive keratectomy) in monkeys. Arch Ophthalmol 1990; 108:665-75. [PMID: 2334323]
-
(1990)
Arch Ophthalmol
, vol.108
, pp. 665-675
-
-
Fantes, F.E.1
Hanna, K.D.2
Waring III, G.O.3
Pouliquen, Y.4
Thompson, K.P.5
Savoldelli, M.6
-
17
-
-
0347503578
-
A new era for preventive genetic programs in the Arabian Peninsula
-
[PMID: 14647548]
-
Al-Odaib AN, Abu-Amero KK, Ozand PT, Al-Hellani AM. A new era for preventive genetic programs in the Arabian Peninsula. Saudi Med J 2003; 24:1168-75. [PMID: 14647548]
-
(2003)
Saudi Med J
, vol.24
, pp. 1168-1175
-
-
Al-Odaib, A.N.1
Abu-Amero, K.K.2
Ozand, P.T.3
Al-Hellani, A.M.4
-
19
-
-
33845416859
-
Disease-causing mutations in proteins: Structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans
-
[PMID: 16963504]
-
Achary MS, Reddy AB, Chakrabarti S, Panicker SG, Mandal AK, Ahmed N, Balasubramanian D, Hasnain SE, Nagarajaram HA. Disease-causing mutations in proteins: structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans. Biophys J 2006; 91:4329-39. [PMID: 16963504]
-
(2006)
Biophys J
, vol.91
, pp. 4329-4339
-
-
Achary, M.S.1
Reddy, A.B.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
-
20
-
-
0035217151
-
Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism
-
[PMID: 11740343]
-
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. [PMID: 11740343]
-
(2001)
Pharmacogenetics
, vol.11
, pp. 793-801
-
-
Jansson, I.1
Stoilov, I.2
Sarfarazi, M.3
Schenkman, J.B.4
-
21
-
-
0035123212
-
Cytochrome P450 1B1 gene mutations in Japanese patients with primary congenital glaucoma(1)
-
[PMID: 11239867]
-
Kakiuchi-Matsumoto T, Isashiki Y, Ohba N, Kimura K, Sonoda S, Unoki K. Cytochrome P450 1B1 gene mutations in Japanese patients with primary congenital glaucoma(1). Am J Ophthalmol 2001; 131:345-50. [PMID: 11239867]
-
(2001)
Am J Ophthalmol
, vol.131
, pp. 345-350
-
-
Kakiuchi-Matsumoto, T.1
Isashiki, Y.2
Ohba, N.3
Kimura, K.4
Sonoda, S.5
Unoki, K.6
-
22
-
-
54049126558
-
CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma
-
[PMID: 18852424]
-
Chen Y, Jiang D, Yu L, Katz B, Zhang K, Wan B, Sun X. CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma. Arch Ophthalmol 2008; 126:1443-7. [PMID: 18852424]
-
(2008)
Arch Ophthalmol
, vol.126
, pp. 1443-1447
-
-
Chen, Y.1
Jiang, D.2
Yu, L.3
Katz, B.4
Zhang, K.5
Wan, B.6
Sun, X.7
-
23
-
-
18344398251
-
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients
-
[PMID: 12525557]
-
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. [PMID: 12525557]
-
(2003)
J Med Genet
, vol.40
-
-
Sitorus, R.1
Ardjo, S.M.2
Lorenz, B.3
Preising, M.4
-
24
-
-
15844383248
-
Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients
-
[PMID: 15475877]
-
Reddy AB, Kaur K, Mandal AK, Panicker SG, Thomas R, Hasnain SE, Balasubramanian D, Chakrabarti S. Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. Mol Vis 2004; 10:696-702. [PMID: 15475877]
-
(2004)
Mol Vis
, vol.10
, pp. 696-702
-
-
Reddy, A.B.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
-
25
-
-
0036272051
-
Molecular genetics of primary congenital glaucoma in Brazil
-
[PMID: 12036985]
-
Stoilov IR, Costa VP, Vasconcellos JP, Melo MB, Betinjane AJ, Carani JC, Oltrogge EV, Sarfarazi M. Molecular genetics of primary congenital glaucoma in Brazil. Invest Ophthalmol Vis Sci 2002; 43:1820-7. [PMID: 12036985]
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 1820-1827
-
-
Stoilov, I.R.1
Costa, V.P.2
Vasconcellos, J.P.3
Melo, M.B.4
Betinjane, A.J.5
Carani, J.C.6
Oltrogge, E.V.7
Sarfarazi, M.8
-
26
-
-
34548309440
-
Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations
-
[PMID: 17893647]
-
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. [PMID: 17893647]
-
(2007)
Mol Vis
, vol.13
, pp. 1458-1468
-
-
Bagiyeva, S.1
Marfany, G.2
Gonzalez-Angulo, O.3
Gonzalez-Duarte, R.4
-
27
-
-
77955593629
-
Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: Three novel mutations in CYP1B1
-
[PMID: 20664688]
-
Hilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A. Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. Mol Vis 2010; 16:1215-26. [PMID: 20664688]
-
(2010)
Mol Vis
, vol.16
, pp. 1215-1226
-
-
Hilal, L.1
Boutayeb, S.2
Serrou, A.3
Refass-Buret, L.4
Shisseh, H.5
Bencherifa, F.6
El Mzibri, M.7
Benazzouz, B.8
Berraho, A.9
-
28
-
-
34548138898
-
Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma
-
[PMID: 17718864]
-
Dimasi DP, Hewitt AW, Straga T, Pater J, MacKinnon JR, Elder JE, Casey T, Mackey DA, Craig JE. Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma. Clin Genet 2007; 72:255-60. [PMID: 17718864]
-
(2007)
Clin Genet
, vol.72
, pp. 255-260
-
-
Dimasi, D.P.1
Hewitt, A.W.2
Straga, T.3
Pater, J.4
McKinnon, J.R.5
Elder, J.E.6
Casey, T.7
Mackey, D.A.8
Craig, J.E.9
-
29
-
-
1942522732
-
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France
-
[PMID: 14635112]
-
Colomb E, Kaplan J, Garchon HJ. Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. Hum Mutat 2003; 22:496. [PMID: 14635112]
-
(2003)
Hum Mutat
, vol.22
, pp. 496
-
-
Colomb, E.1
Kaplan, J.2
Garchon, H.J.3
-
30
-
-
61849142774
-
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: Phenotypic and functional variability
-
[PMID: 19234632]
-
Campos-Mollo E, Lopez-Garrido MP, Blanco-Marchite C, Garcia-Feijoo J, Peralta J, Belmonte-Martinez J, Ayuso C, Escribano J. CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. Mol Vis 2009; 15:417-31. [PMID: 19234632]
-
(2009)
Mol Vis
, vol.15
, pp. 417-431
-
-
Campos-Mollo, E.1
Lopez-Garrido, M.P.2
Blanco-Marchite, C.3
Garcia-Feijoo, J.4
Peralta, J.5
Belmonte-Martinez, J.6
Ayuso, C.7
Escribano, J.8
-
31
-
-
34548189984
-
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. The Journal of molecular diagnostics
-
[PMID: 17591938]
-
Chitsazian F, Tusi BK, Elahi E, Saroei HA, Sanati MH, Yazdani S, Pakravan M, Nilforooshan N, Eslami Y, Mehrjerdi MA, Zareei R, Jabbarvand M, Abdolahi A, Lasheyee AR, Etemadi A, Bayat B, Sadeghi M, Banoei MM, Ghafarzadeh B, Rohani MR, Rismanchian A, Thorstenson Y, Sarfarazi M. CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. The Journal of molecular diagnostics. J Mol Diagn 2007; 9:382-93. [PMID: 17591938]
-
(2007)
J Mol Diagn
, vol.9
, 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
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..
-
32
-
-
33144465347
-
Molecular and clinical evaluation of primary congenital glaucoma in Kuwait
-
[PMID: 16490498]
-
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. [PMID: 16490498]
-
(2006)
Am J Ophthalmol
, vol.141
, pp. 512-516
-
-
Alfadhli, S.1
Behbehani, A.2
Elshafey, A.3
Abdelmoaty, S.4
Al-Awadi, S.5
-
33
-
-
2442723700
-
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
-
[PMID: 10227395]
-
Plásilová M, Stoilov I, Sarfarazi M, Kadasi L, Ferakova E, Ferak V. Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J Med Genet 1999; 36:290-4. [PMID: 10227395]
-
(1999)
J Med Genet
, vol.36
, pp. 290-294
-
-
Plásilová, M.1
Stoilov, I.2
Sarfarazi, M.3
Kadasi, L.4
Ferakova, E.5
Ferak, V.6
-
34
-
-
70349578331
-
Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma
-
[PMID: 19656777]
-
Narooie-Nejad M, Paylakhi SH, Shojaee S, Fazlali Z, Rezaei Kanavi M, Nilforushan N, Yazdani S, Babrzadeh F, Suri F, Ronaghi M, Elahi E, Paisan-Ruiz C. Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma. Hum Mol Genet 2009; 18:3969-77. [PMID: 19656777]
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3969-3977
-
-
Narooie-Nejad, M.1
Paylakhi, S.H.2
Shojaee, S.3
Fazlali, Z.4
Rezaei Kanavi, M.5
Nilforushan, N.6
Yazdani, S.7
Babrzadeh, F.8
Suri, F.9
Ronaghi, M.10
Elahi, E.11
Paisan-Ruiz, C.12
-
35
-
-
79951809419
-
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population
-
[PMID: 21081970]
-
Azmanov DN, Dimitrova S, Florez L, Cherninkova S, Draganov D, Morar B, Saat R, Juan M, Arostegui JI, Ganguly S, Soodyall H, Chakrabarti S, Padh H, Lopez-Nevot MA, Chernodrinska V, Anguelov B, Majumder P, Angelova L, Kaneva R, Mackey DA, Tournev I, Kalaydjieva L. LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population. Eur J Hum Genet 2011; 19:326-33. [PMID: 21081970]
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 326-333
-
-
Azmanov, D.N.1
Dimitrova, S.2
Florez, L.3
Cherninkova, S.4
Draganov, D.5
Morar, B.6
Saat, R.7
Juan, M.8
Arostegui, J.I.9
Ganguly, S.10
Soodyall, H.11
Chakrabarti, S.12
Padh, H.13
Lopez-Nevot, M.A.14
Chernodrinska, V.15
Anguelov, B.16
Majumder, P.17
Angelova, L.18
Kaneva, R.19
Mackey, D.A.20
Tournev, I.21
Kalaydjieva, L.22
more..
-
36
-
-
33947711740
-
Genotype and phenotype correlations in congenital glaucoma
-
[PMID: 17471339]
-
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. [PMID: 17471339]
-
(2006)
Trans Am Ophthalmol Soc
, vol.104
, pp. 183-195
-
-
Hollander, D.A.1
Sarfarazi, M.2
Stoilov, I.3
Wood, I.S.4
Fredrick, D.R.5
Alvarado, J.A.6
-
37
-
-
33845186799
-
Genotype and phenotype correlations in congenital glaucoma: CYP1B1 mutations, goniodysgenesis, and clinical characteristics
-
[PMID: 17157584]
-
Hollander DA, Sarfarazi M, Stoilov I, Wood IS, Fredrick DR, Alvarado JA. Genotype and phenotype correlations in congenital glaucoma: CYP1B1 mutations, goniodysgenesis, and clinical characteristics. Am J Ophthalmol 2006; 142:993-1004. [PMID: 17157584]
-
(2006)
Am J Ophthalmol
, vol.142
, pp. 993-1004
-
-
Hollander, D.A.1
Sarfarazi, M.2
Stoilov, I.3
Wood, I.S.4
Fredrick, D.R.5
Alvarado, J.A.6
-
38
-
-
28744453057
-
Newborn primary congenital glaucoma: 2005 update
-
[PMID: 16382557]
-
Walton DS, Katsavounidou G. Newborn primary congenital glaucoma: 2005 update. J Pediatr Ophthalmol Strabismus 2005; 42:333-41. [PMID: 16382557]
-
(2005)
J Pediatr Ophthalmol Strabismus
, vol.42
, pp. 333-341
-
-
Walton, D.S.1
Katsavounidou, G.2
-
39
-
-
78751648190
-
CYP1B1 gene analysis in primary congenital glaucoma Brazilian patients: Novel mutations and association with poor prognosis
-
[PMID: 19528825]
-
Della Paolera M, de Vasconcellos JP, Umbelino CC, Kasahara N, Rocha MN, Richeti F, Costa VP, Tavares A, de Melo MB. CYP1B1 gene analysis in primary congenital glaucoma Brazilian patients: novel mutations and association with poor prognosis. J Glaucoma 2010; 19:176-82. [PMID: 19528825]
-
(2010)
J Glaucoma
, vol.19
, pp. 176-182
-
-
Della Paolera, M.1
de Vasconcellos, J.P.2
Umbelino, C.C.3
Kasahara, N.4
Rocha, M.N.5
Richeti, F.6
Costa, V.P.7
Tavares, A.8
de Melo, M.B.9
-
40
-
-
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
-
[PMID: 9497261]
-
Stoilov I, Akarsu AN, Alozie I, Child A, Barsoum-Homsy M, Turacli ME, Or M, Lewis RA, Ozdemir N, Brice G, Aktan SG, Chevrette L, Coca-Prados M, Sarfarazi M. 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. [PMID: 9497261]
-
(1998)
Am J Hum Genet
, vol.62
, 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
-
41
-
-
33745925304
-
Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma
-
[PMID: 16862072]
-
López-Garrido MP, Sanchez-Sanchez F, Lopez-Martinez F, Aroca-Aguilar JD, Blanco-Marchite C, Coca-Prados M, Escribano J. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis 2006; 12:748-55. [PMID: 16862072]
-
(2006)
Mol Vis
, vol.12
, pp. 748-755
-
-
López-Garrido, M.P.1
Sanchez-Sanchez, F.2
Lopez-Martinez, F.3
Aroca-Aguilar, J.D.4
Blanco-Marchite, C.5
Coca-Prados, M.6
Escribano, J.7
-
42
-
-
0034854849
-
Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma
-
[PMID: 11527932]
-
Mashima Y, Suzuki Y, Sergeev Y, Ohtake Y, Tanino T, Kimura I, Miyata H, Aihara M, Tanihara H, Inatani M, Azuma N, Iwata T, Araie M. Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma. Invest Ophthalmol Vis Sci 2001; 42:2211-6. [PMID: 11527932]
-
(2001)
Invest Ophthalmol Vis Sci
, vol.42
, 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
-
43
-
-
4444315011
-
CYP1B1 mutations in French patients with early-onset primary openangle glaucoma
-
[PMID: 15342693]
-
Melki R, Colomb E, Lefort N, Brezin AP, Garchon HJ. CYP1B1 mutations in French patients with early-onset primary openangle glaucoma. J Med Genet 2004; 41:647-51. [PMID: 15342693]
-
(2004)
J Med Genet
, vol.41
, pp. 647-651
-
-
Melki, R.1
Colomb, E.2
Lefort, N.3
Brezin, A.P.4
Garchon, H.J.5
|