-
1
-
-
0019291895
-
Congenital glaucoma and its inheritance
-
Francois J. Congenital glaucoma and its inheritance. Ophthalmologica 1980;181:61-73.
-
(1980)
Ophthalmologica
, vol.181
, pp. 61-73
-
-
Francois, J.1
-
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
-
4
-
-
0029836678
-
A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region
-
Akarsu AN, Turacli ME, Aktan SG, et al. A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Hum Mol Genet 1996;5:1199-1203.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1199-1203
-
-
Akarsu, A.N.1
Turacli, M.E.2
Aktan, S.G.3
-
5
-
-
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;9:367-374.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 367-374
-
-
Bejjani, B.A.1
Stockton, D.W.2
Lewis, R.A.3
-
6
-
-
0002394285
-
Epidemiology and pathophysiology of congenital glaucoma
-
2nd ed. St Louis: Mosby
-
Dickens CJ, Hoskins Jr. HD. Epidemiology and pathophysiology of congenital glaucoma. In The Glaucomas, 2nd ed. St Louis: Mosby, 1996:729-738.
-
(1996)
The Glaucomas
, pp. 729-738
-
-
Dickens, C.J.1
Hoskins Jr., H.D.2
-
7
-
-
0025642490
-
Evidence of HLA-linked susceptibility gene(s) in primary congenital glaucoma
-
Hafez M, Moustafa EE, Mokpel TH, Settein S, el-Serogy H. Evidence of HLA-linked susceptibility gene(s) in primary congenital glaucoma. Dis Markers 1990;8:191-197.
-
(1990)
Dis Markers
, vol.8
, pp. 191-197
-
-
Hafez, M.1
Moustafa, E.E.2
Mokpel, T.H.3
Settein, S.4
El-Serogy, H.5
-
8
-
-
0028880039
-
Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity
-
Sarfarazi M, Akarsu AN, Hossain A, et al. Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 1995;30:171-177.
-
(1995)
Genomics
, vol.30
, pp. 171-177
-
-
Sarfarazi, M.1
Akarsu, A.N.2
Hossain, A.3
-
10
-
-
0003116189
-
Care of the infantile glaucoma patient
-
New York: Raven Press
-
Jaffar M. Care of the infantile glaucoma patient, Ophthalmology Annual. New York: Raven Press, 1988:15-37
-
(1988)
Ophthalmology Annual
, pp. 15-37
-
-
Jaffar, M.1
-
11
-
-
0028279517
-
Genetic clues to glaucoma's secrets. The L Edward Jackson Memorial Lecture. Part 2
-
Lichter PR. Genetic clues to glaucoma's secrets. The L Edward Jackson Memorial Lecture. Part 2. Am J Ophthalmol 1994;117:706-727
-
(1994)
Am J Ophthalmol
, vol.117
, pp. 706-727
-
-
Lichter, P.R.1
-
12
-
-
0028143275
-
Visual field validity and the search for glaucoma's Holy Grail
-
Lichter PR. Visual field validity and the search for glaucoma's Holy Grail. Ophthalmology 1994;101:1479-1480
-
(1994)
Ophthalmology
, vol.101
, pp. 1479-1480
-
-
Lichter, P.R.1
-
13
-
-
0034765675
-
Diagnosis and management of pediatric glaucoma
-
Beck AD. Diagnosis and management of pediatric glaucoma. Ophthalmol Clin North Am 2001;14:501-512.
-
(2001)
Ophthalmol Clin North Am
, vol.14
, pp. 501-512
-
-
Beck, A.D.1
-
15
-
-
0004227661
-
-
4th ed. Boston: Butterworth-Heinemann
-
Kanski J. Clinical ophthalmology, 4th ed. Boston: Butterworth- Heinemann, 1999:235-238
-
(1999)
Clinical Ophthalmology
, pp. 235-238
-
-
Kanski, J.1
-
17
-
-
70349612277
-
Visual impairment secondary to congenital glaucoma in children: Visual responses, optical correction and use of low vision AIDS
-
Haddad MA, Sampaio MW, Oltrogge EW, Kara-Jose N, Betinjane AJ. Visual impairment secondary to congenital glaucoma in children: Visual responses, optical correction and use of low vision AIDS. Clinics (Sao Paulo) 2009;64:725-730
-
(2009)
Clinics (Sao Paulo)
, vol.64
, pp. 725-730
-
-
Ma, H.1
Sampaio, M.W.2
Oltrogge, E.W.3
Kara-Jose, N.4
Betinjane, A.J.5
-
18
-
-
0036240676
-
Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees
-
Panicker SG, Reddy AB, Mandal AK, et al. Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. Invest Ophthalmol Vis Sci 2002;43:1358-1366
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 1358-1366
-
-
Panicker, S.G.1
Reddy, A.B.2
Mandal, A.K.3
-
19
-
-
84876044232
-
The third genetic locus (GLC3C) for Primary Congenital Glaucoma (PCG) maps to chromosome 14q24.3
-
SUPPL.
-
Sarfarazi M, Stoilov I. The third genetic locus (GLC3C) for Primary Congenital Glaucoma (PCG) maps to chromosome 14q24.3. Am J Hum Genet 2002 (Suppl.);71
-
(2002)
Am J Hum Genet
, pp. 71
-
-
Sarfarazi, M.1
Stoilov, I.2
-
20
-
-
15844369913
-
The third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24.3
-
Stoilov I, Sarfarazi M. The third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24.3. Invest Ophthalmol Vis Sci (Abst. # 3015) 2002;43
-
(2002)
Invest Ophthalmol Vis Sci (Abst. # 3015)
, pp. 43
-
-
Stoilov, I.1
Sarfarazi, M.2
-
21
-
-
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
-
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;6:641-647
-
(1997)
Hum Mol Genet
, vol.6
, pp. 641-647
-
-
Stoilov, I.1
Akarsu, A.N.2
Sarfarazi, M.3
-
22
-
-
84876019386
-
Molecular genetics of primary congenital glaucoma
-
Traboulsi EI, ed. 2nd ed., Ch. 17. Oxford: Oxford University Press
-
Sharafieh R, Child AH, Sarfarazi M. Molecular genetics of primary congenital glaucoma. In: Traboulsi EI, ed. Genetic Diseases of the Eye, 2nd ed., Ch. 17. Oxford: Oxford University Press, 2012
-
(2012)
Genetic Diseases of the Eye
-
-
Sharafieh, R.1
Child, A.H.2
Sarfarazi, M.3
-
24
-
-
54049126558
-
CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma
-
Chen Y, Jiang D, Yu L, et al. CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma. Arch Ophthalmol 2008;126:1443-1447
-
(2008)
Arch Ophthalmol
, vol.126
, pp. 1443-1447
-
-
Chen, Y.1
Jiang, D.2
Yu, L.3
-
25
-
-
0032865552
-
A novel truncating mutation of cytochrome P4501B1 (CYP1B1) gene in primary infantile glaucoma
-
Kakiuchi T, Isashiki Y, Nakao K, Sonoda S, Kimura K, Ohba N. A novel truncating mutation of cytochrome P4501B1 (CYP1B1) gene in primary infantile glaucoma. Am J Ophthalmol 1999;128:370-372
-
(1999)
Am J Ophthalmol
, vol.128
, pp. 370-372
-
-
Kakiuchi, T.1
Isashiki, Y.2
Nakao, K.3
Sonoda, S.4
Kimura, K.5
Ohba, N.6
-
26
-
-
0020000365
-
Population genetic aspects of primary congenital glaucoma. II. Fitness, parental consanguinity, founder effect
-
Ferak V, Gencik A, Gencikova A. Population genetic aspects of primary congenital glaucoma. II. Fitness, parental consanguinity, founder effect. Hum Genet 1982;61:198-200
-
(1982)
Hum Genet
, vol.61
, pp. 198-200
-
-
Ferak, V.1
Gencik, A.2
Gencikova, A.3
-
27
-
-
2442723700
-
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
-
Plasilova 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;36:290-294
-
(1999)
J Med Genet
, vol.36
, pp. 290-294
-
-
Plasilova, M.1
Stoilov, I.2
Sarfarazi, M.3
Kadasi, L.4
Ferakova, E.5
Ferak, V.6
-
28
-
-
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;84:664-671
-
(2009)
Am J Hum Genet
, vol.84
, pp. 664-671
-
-
Ali, M.1
McKibbin, M.2
Booth, A.3
-
29
-
-
70349578331
-
Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma
-
Narooie-Nejad M, Paylakhi SH, Shojaee S, et al. 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;18:3969-3977
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3969-3977
-
-
Narooie-Nejad, M.1
Paylakhi, S.H.2
Shojaee, S.3
-
30
-
-
77953809725
-
LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma
-
Desir J, Sznajer Y, Depasse F, et al. LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. Eur J Hum Genet 2010;18:761-767.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 761-767
-
-
Desir, J.1
Sznajer, Y.2
Depasse, F.3
-
31
-
-
80051801918
-
Genetics of primary glaucoma
-
Khan AO. Genetics of primary glaucoma. Curr Opin Ophthalmol 2011;22:347-355.
-
(2011)
Curr Opin Ophthalmol
, vol.22
, pp. 347-355
-
-
Khan, A.O.1
-
32
-
-
83055199997
-
Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - A distinct phenotype caused by recessive LTBP2 mutations
-
Khan AO, Aldahmesh MA, Alkuraya FS. Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations. Mol Vis 2011;17:2570-2579.
-
(2011)
Mol Vis
, vol.17
, pp. 2570-2579
-
-
Khan, A.O.1
Aldahmesh, M.A.2
Alkuraya, F.S.3
-
34
-
-
84887997469
-
CYP1B1 MYOC and LTBP2 sequence variations in a cohort of primary congenital glaucoma (PCG) patients from the US
-
Yanovitch TL, Freedman SF, White T, Tran-Viet K-N, Metlapally R, Call W, Burner E, Young TL. CYP1B1, MYOC, and LTBP2 sequence variations in a cohort of primary congenital glaucoma (PCG) patients from the US. Invest Ophthalmol Vis Sci (Abst. # 2179) 2010; 51.
-
(2010)
Invest Ophthalmol Vis Sci (Abst. # 2179)
, pp. 51
-
-
Yanovitch, T.L.1
Freedman, S.F.2
White, T.3
Tran-Viet, K.-N.4
Metlapally, R.5
Call, W.6
Burner, E.7
Young, T.L.8
-
35
-
-
51549087751
-
Primary congenital glaucoma localizes to chromosome 14q24.2- 24.3 in two consanguineous Pakistani families
-
Firasat S, Riazuddin SA, Hejtmancik JF, Riazuddin S. Primary congenital glaucoma localizes to chromosome 14q24.2- 24.3 in two consanguineous Pakistani families. Mol Vis 2008;14:1659-1665.
-
(2008)
Mol Vis
, vol.14
, pp. 1659-1665
-
-
Firasat, S.1
Riazuddin, S.A.2
Hejtmancik, J.F.3
Riazuddin, S.4
-
36
-
-
84887996692
-
Confirmation of a locus for primary congenital glaucoma (PCG) on chromosome 14q24 in a Pakistani pedigree
-
Booth AP, Murphy A-L, Williams G, et al. Confirmation of a locus for primary congenital glaucoma (PCG) on chromosome 14q24 in a Pakistani pedigree. Invest Ophthalmol Vis Sci (Abst. # 5123) 2008; 49.
-
(2008)
Invest Ophthalmol Vis Sci (Abst. # 5123)
, pp. 49
-
-
Booth, A.P.1
Murphy, A.-L.2
Williams, G.3
-
37
-
-
77957559653
-
A homozygous mutation in LTBP2 causes isolated microspherophakia
-
Kumar A, Duvvari MR, Prabhakaran VC, Shetty JS, Murthy GJ, Blanton SH. A homozygous mutation in LTBP2 causes isolated microspherophakia. Hum Genet 2010;128:365-371.
-
(2010)
Hum Genet
, vol.128
, pp. 365-371
-
-
Kumar, A.1
Duvvari, M.R.2
Prabhakaran, V.C.3
Shetty, J.S.4
Murthy, G.J.5
Blanton, S.H.6
-
38
-
-
79952835166
-
Molecular characterization of newborn glaucoma including a distinct aniridic phenotype
-
Khan AO, Aldahmesh MA, Al-Abdi L, et al. Molecular characterization of newborn glaucoma including a distinct aniridic phenotype. Ophthalmic Genet 2011;32:138-42.
-
(2011)
Ophthalmic Genet
, vol.32
, pp. 138-142
-
-
Khan, A.O.1
Aldahmesh, M.A.2
Al-Abdi, L.3
|