-
4
-
-
35148844146
-
The British Infantile and Childhood Glaucoma (BIG) Eye Study
-
BIG Eye Study Investigators
-
Papadopoulos M, Cable N, Rahi J, Khaw PT. BIG Eye Study Investigators. The British Infantile and Childhood Glaucoma (BIG) Eye Study. Invest Ophthalmol Vis Sci 2007;48:4100-6.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 4100-4106
-
-
Papadopoulos, M.1
Cable, N.2
Rahi, J.3
Khaw, P.T.4
-
6
-
-
77950810499
-
Incidence and clinical characteristics of childhood glaucoma: A population-based study
-
Aponte EP, Diehl N, Mohney BG. Incidence and clinical characteristics of childhood glaucoma: A population-based study. Arch Ophthalmol 2010;128:478-82
-
(2010)
Arch Ophthalmol
, vol.128
, pp. 478-482
-
-
Aponte, E.P.1
Diehl, N.2
Mohney, B.G.3
-
7
-
-
0020592326
-
Primary infantile glaucoma (congenital glaucoma)
-
deLuise VP, Anderson DR. Primary infantile glaucoma (congenital glaucoma). Surv Ophthalmol 1983;28:1-19.
-
(1983)
Surv Ophthalmol
, vol.28
, pp. 1-19
-
-
Deluise, V.P.1
Anderson, D.R.2
-
8
-
-
85027928799
-
Primary and Secondary Congenital Glaucoma: Baseline Features from a Registry at King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
-
Alanazi FF, Song JC, Mousa A, Morales J, Al Shahwan S, Alodhayb S, et al. Primary and Secondary Congenital Glaucoma: Baseline Features From a Registry at King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. Am J Ophthalmol. 2013;155:882-9.
-
(2013)
Am J Ophthalmol
, vol.155
, pp. 882-889
-
-
Alanazi, F.F.1
Song, J.C.2
Mousa, A.3
Morales, J.4
Al Shahwan, S.5
Alodhayb, S.6
-
9
-
-
33646555717
-
Morphology, family history, and age at diagnosis of 26 patients with Axenfeld-Rieger syndrome and glaucoma or ocular hypertension
-
Dressler P, Gramer E. [Morphology, family history, and age at diagnosis of 26 patients with Axenfeld-Rieger syndrome and glaucoma or ocular hypertension]. Ophthalmologe 2006;103:393-400.
-
(2006)
Ophthalmologe
, vol.103
, pp. 393-400
-
-
Dressler, P.1
Gramer, E.2
-
10
-
-
79960698798
-
Peters anomaly: Review of the literature
-
Bhandari R, Ferri S, Whitt aker B, Liu M, Lazzaro DR. Peters anomaly: Review of the literature. Cornea 2011;30:939-44.
-
(2011)
Cornea
, vol.30
, pp. 939-944
-
-
Bhandari, R.1
Ferri, S.2
Whitt Aker, B.3
Liu, M.4
Lazzaro, D.R.5
-
12
-
-
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;6:641-7.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 641-647
-
-
Stoilov, I.1
Akarsu, A.N.2
Sarfarazi, M.3
-
13
-
-
17344362827
-
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia
-
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.
-
(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
-
14
-
-
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. 664-671
-
-
Ali, M.1
McKibbin, M.2
Booth, A.3
Parry, D.A.4
Jain, P.5
Riazuddin, S.A.6
-
15
-
-
15844415263
-
Myocilin gene implicated in primary congenital glaucoma
-
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.
-
(2005)
Clin Genet
, vol.67
, pp. 335-340
-
-
Kaur, K.1
Reddy, A.B.2
Mukhopadhyay, A.3
Mandal, A.K.4
Hasnain, S.E.5
Ray, K.6
-
16
-
-
80051801918
-
Genetics of primary glaucoma
-
Khan AO. Genetics of primary glaucoma. Curr Opin Ophthalmol 2011;22:347-55.
-
(2011)
Curr Opin Ophthalmol
, vol.22
, pp. 347-355
-
-
Khan, A.O.1
-
17
-
-
0033926590
-
Molecular genetics of primary congenital glaucoma
-
Sarfarazi M, Stoilov I. Molecular genetics of primary congenital glaucoma. Eye (Lond) 2000;14:422-8.
-
(2000)
Eye (Lond)
, vol.14
, pp. 422-428
-
-
Sarfarazi, M.1
Stoilov, I.2
-
18
-
-
0024388554
-
Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primarycongenital glaucoma in gypsies with autosomal-recessive inheritance and complete penetrance
-
Genĉík A. Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primarycongenital glaucoma in gypsies with autosomal-recessive inheritance and complete penetrance. Dev Ophthalmol 1989;16:76-115.
-
(1989)
Dev Ophthalmol
, vol.16
, pp. 76-115
-
-
Genĉík, A.1
-
19
-
-
1642602458
-
Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: A step towards preventing glaucoma related blindness
-
Martin SN, Sutherland J, Levin AV, Klose R, Priston M, Héon E. Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: A step towards preventing glaucoma related blindness. J Med Genet 2000;37:422-7.
-
(2000)
J Med Genet
, vol.37
, pp. 422-427
-
-
Martin, S.N.1
Sutherland, J.2
Levin, A.V.3
Klose, R.4
Priston, M.5
Héon, E.6
-
20
-
-
77953079036
-
Clinical and molecular aspects of aniridia
-
Kokotas H, Petersen MB. Clinical and molecular aspects of aniridia. Clin Genet 2010;77:409-20.
-
(2010)
Clin Genet
, vol.77
, pp. 409-420
-
-
Kokotas, H.1
Petersen, M.B.2
-
21
-
-
0020612595
-
Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: Four-generation family with Rieger's syndrome
-
Chisholm IA, Chudley AE. Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: Four-generation family with Rieger's syndrome. Br J Ophthalmol 1983;67:529-34.
-
(1983)
Br J Ophthalmol
, vol.67
, pp. 529-534
-
-
Chisholm, I.A.1
Chudley, A.E.2
-
22
-
-
5044222938
-
Axenfeld-Rieger anomaly: A novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family
-
Mortemousque B, Amati-Bonneau P, Couture F, Graffan R, Dubois S, Colin J, et al. Axenfeld-Rieger anomaly: A novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family. Arch Ophthalmol 2004;122:1527-33.
-
(2004)
Arch Ophthalmol
, vol.122
, pp. 1527-1533
-
-
Mortemousque, B.1
Amati-Bonneau, P.2
Couture, F.3
Graffan, R.4
Dubois, S.5
Colin, J.6
-
24
-
-
0029552712
-
Three siblings with Walker-Warburg Syndrome
-
Bornemann A, Pfeiffer R, Beinder E, Wenkel H, Schlicker U, Meyermann R, et al. Three siblings with Walker-Warburg Syndrome. Gen Diagn Pathol 1996;141:371-5.
-
(1996)
Gen Diagn Pathol
, vol.141
, pp. 371-375
-
-
Bornemann, A.1
Pfeiffer, R.2
Beinder, E.3
Wenkel, H.4
Schlicker, U.5
Meyermann, R.6
-
25
-
-
0032475840
-
Klippel-Trenaunay syndrome
-
Berry SA, Peterson C, Mize W, Bloom K, Zachary C, Blasco P, et al. Klippel-Trenaunay syndrome. Am J Med Genet 1998;79:319-26.
-
(1998)
Am J Med Genet
, vol.79
, pp. 319-326
-
-
Berry, S.A.1
Peterson, C.2
Mize, W.3
Bloom, K.4
Zachary, C.5
Blasco, P.6
-
26
-
-
0041382226
-
Pathophysiology of Sturge-Weber syndrome
-
Comi AM. Pathophysiology of Sturge-Weber syndrome. J Child Neurol 2003;18:509-16.
-
(2003)
J Child Neurol
, vol.18
, pp. 509-516
-
-
Comi, A.M.1
-
27
-
-
33744796023
-
A population-based case-control study of isolated primary congenital glaucoma
-
Vogt G, Horváth-Puhó E, Czeizel AE. A population-based case-control study of isolated primary congenital glaucoma. Am J Med Genet A 2006;140:1148-55.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 1148-1155
-
-
Vogt, G.1
Horváth-Puhó, E.2
Czeizel, A.E.3
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