-
1
-
-
0032792185
-
Clinical and genetic heterogeneity in autosomal dominant congenital cataract
-
[PMID: 10381667]
-
Ionides A, Francis P, Berry V, Mackay D, Bhattacharya SS, Shiels A, Moore AT. Clinical and genetic heterogeneity in autosomal dominant congenital cataract. Br J Ophthalmol 1999; 83:802-8. [PMID: 10381667]
-
(1999)
Br J Ophthalmol
, vol.83
, pp. 802-808
-
-
Ionides, A.1
Francis, P.2
Berry, V.3
Mackay, D.4
Bhattacharya, S.S.5
Shiels, A.6
Moore, A.T.7
-
2
-
-
0242322773
-
The genetic and molecular basis of congenital eye defects
-
[PMID: 14634635]
-
Graw J. The genetic and molecular basis of congenital eye defects. Nat Rev Genet 2003; 4:876-88. [PMID: 14634635]
-
(2003)
Nat Rev Genet
, vol.4
, pp. 876-888
-
-
Graw, J.1
-
3
-
-
78149488289
-
Cat-Map: Putting cataract on the map
-
[PMID: 21042563]
-
Shiels A, Bennett TM, Hejtmancik JF. Cat-Map: putting cataract on the map. Mol Vis 2010; 16:2007-15. [PMID: 21042563]
-
(2010)
Mol Vis
, vol.16
, pp. 2007-2015
-
-
Shiels, A.1
Bennett, T.M.2
Hejtmancik, J.F.3
-
4
-
-
0033789748
-
Sequential activation of transcription factors in lens induction
-
[PMID: 11041485]
-
Ogino H, Yasuda K. Sequential activation of transcription factors in lens induction. Dev Growth Differ 2000; 42:437-48. [PMID: 11041485]
-
(2000)
Dev Growth Differ
, vol.42
, pp. 437-448
-
-
Ogino, H.1
Yasuda, K.2
-
5
-
-
0032899711
-
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations
-
[PMID: 9931324]
-
Hanson I, Churchill A, Love J, Axton R, Moore T, Clarke M, Meire F, van Heyningen V. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum Mol Genet 1999; 8:165-72. [PMID: 9931324]
-
(1999)
Hum Mol Genet
, vol.8
, pp. 165-172
-
-
Hanson, I.1
Churchill, A.2
Love, J.3
Axton, R.4
Moore, T.5
Clarke, M.6
Meire, F.7
van Heyningen, V.8
-
6
-
-
0035253581
-
Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts
-
[PMID: 11159941]
-
Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum Mol Genet 2001; 10:231-6. [PMID: 11159941]
-
(2001)
Hum Mol Genet
, vol.10
, pp. 231-236
-
-
Semina, E.V.1
Brownell, I.2
Mintz-Hittner, H.A.3
Murray, J.C.4
Jamrich, M.5
-
7
-
-
0034639683
-
Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies
-
[PMID: 10655545]
-
Azuma N, Hirakiyama A, Inoue T, Asaka A, Yamada M. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet 2000; 9:363-6. [PMID: 10655545]
-
(2000)
Hum Mol Genet
, vol.9
, pp. 363-366
-
-
Azuma, N.1
Hirakiyama, A.2
Inoue, T.3
Asaka, A.4
Yamada, M.5
-
8
-
-
0036156544
-
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma
-
[PMID: 11772997]
-
Jamieson RV, Perveen R, Kerr B, Carette M, Yardley J, Heon E, Wirth MG, van Heyningen V, Donnai D, Munier F, Black GC. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet 2002; 11:33-42. [PMID: 11772997]
-
(2002)
Hum Mol Genet
, vol.11
, pp. 33-42
-
-
Jamieson, R.V.1
Perveen, R.2
Kerr, B.3
Carette, M.4
Yardley, J.5
Heon, E.6
Wirth, M.G.7
van Heyningen, V.8
Donnai, D.9
Munier, F.10
Black, G.C.11
-
9
-
-
0031811116
-
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD
-
[PMID: 9620774]
-
Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat Genet 1998; 19:167-70. [PMID: 9620774]
-
(1998)
Nat Genet
, vol.19
, pp. 167-170
-
-
Semina, E.V.1
Ferrell, R.E.2
Mintz-Hittner, H.A.3
Bitoun, P.4
Alward, W.L.5
Reiter, R.S.6
Funkhauser, C.7
Daack-Hirsch, S.8
Murray, J.C.9
-
10
-
-
12944249612
-
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)
-
[PMID: 15286169]
-
Berry V, Yang Z, Addison PK, Francis PJ, Ionides A, Karan G, Jiang L, Lin W, Hu J, Yang R, Moore A, Zhang K, Bhattacharya SS. Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). J Med Genet 2004; 41:e109. [PMID: 15286169]
-
(2004)
J Med Genet
, vol.41
-
-
Berry, V.1
Yang, Z.2
Addison, P.K.3
Francis, P.J.4
Ionides, A.5
Karan, G.6
Jiang, L.7
Lin, W.8
Hu, J.9
Yang, R.10
Moore, A.11
Zhang, K.12
Bhattacharya, S.S.13
-
11
-
-
66749121943
-
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract
-
[PMID: 19306328]
-
Zhang T, Hua R, Xiao W, Burdon KP, Bhattacharya SS, Craig JE, Shang D, Zhao X, Mackey DA, Moore AT, Luo Y, Zhang J, Zhang X. Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. Hum Mutat 2009; 30: E603-11. [PMID: 19306328]
-
(2009)
Hum Mutat
, vol.30
-
-
Zhang, T.1
Hua, R.2
Xiao, W.3
Burdon, K.P.4
Bhattacharya, S.S.5
Craig, J.E.6
Shang, D.7
Zhao, X.8
Mackey, D.A.9
Moore, A.T.10
Luo, Y.11
Zhang, J.12
Zhang, X.13
-
12
-
-
0034765821
-
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans
-
[PMID: 11577372]
-
Berry V, Francis P, Reddy MA, Collyer D, Vithana E, MacKay I, Dawson G, Carey AH, Moore A, Bhattacharya SS, Quinlan RA. Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet 2001; 69:1141-5. [PMID: 11577372]
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1141-1145
-
-
Berry, V.1
Francis, P.2
Reddy, M.A.3
Collyer, D.4
Vithana, E.5
Mackay, I.6
Dawson, G.7
Carey, A.H.8
Moore, A.9
Bhattacharya, S.S.10
Quinlan, R.A.11
-
13
-
-
34548206366
-
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
-
[PMID: 17701905]
-
Shiels A, Bennett TM, Knopf HL, Yamada K, Yoshiura K, Niikawa N, Shim S, Hanson PI. CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Am J Hum Genet 2007; 81:596-606. [PMID: 17701905]
-
(2007)
Am J Hum Genet
, vol.81
, pp. 596-606
-
-
Shiels, A.1
Bennett, T.M.2
Knopf, H.L.3
Yamada, K.4
Yoshiura, K.5
Niikawa, N.6
Shim, S.7
Hanson, P.I.8
-
14
-
-
77949322638
-
A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree
-
[PMID: 20142846]
-
Gu Z, Ji B, Wan C, He G, Zhang J, Zhang M, Feng G, He L, Gao L. A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. Mol Vis 2010; 16:154-60. [PMID: 20142846]
-
(2010)
Mol Vis
, vol.16
, pp. 154-160
-
-
Gu, Z.1
Ji, B.2
Wan, C.3
He, G.4
Zhang, J.5
Zhang, M.6
Feng, G.7
He, L.8
Gao, L.9
-
15
-
-
0032801234
-
The bicoid-related Pitx gene family in development
-
[PMID: 9922405]
-
Gage PJ, Suh H, Camper SA. The bicoid-related Pitx gene family in development. Mamm Genome 1999; 10:197-200. [PMID: 9922405]
-
(1999)
Mamm Genome
, vol.10
, pp. 197-200
-
-
Gage, P.J.1
Suh, H.2
Camper, S.A.3
-
16
-
-
0032493822
-
The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities
-
[PMID: 9685346]
-
Amendt BA, Sutherland LB, Semina EV, Russo AF. The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities. J Biol Chem 1998; 273:20066-72. [PMID: 9685346]
-
(1998)
J Biol Chem
, vol.273
, pp. 20066-20072
-
-
Amendt, B.A.1
Sutherland, L.B.2
Semina, E.V.3
Russo, A.F.4
-
17
-
-
0030669179
-
Isolation of a new homeobox gene belonging to the Pitx/Rieg family: Expression during lens development and mapping to the aphakia region on mouse chromosome 19
-
[PMID: 9328475]
-
Semina EV, Reiter RS, Murray JC. Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19. Hum Mol Genet 1997; 6:2109-16. [PMID: 9328475]
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2109-2116
-
-
Semina, E.V.1
Reiter, R.S.2
Murray, J.C.3
-
18
-
-
33645978444
-
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities
-
[PMID: 16565358]
-
Bidinost C, Matsumoto M, Chung D, Salem N, Zhang K, Stockton DW, Khoury A, Megarbane A, Bejjani BA, Traboulsi EI. Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. Invest Ophthalmol Vis Sci 2006; 47:1274-80. [PMID: 16565358]
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 1274-1280
-
-
Bidinost, C.1
Matsumoto, M.2
Chung, D.3
Salem, N.4
Zhang, K.5
Stockton, D.W.6
Khoury, A.7
Megarbane, A.8
Bejjani, B.A.9
Traboulsi, E.I.10
-
19
-
-
36348932775
-
Functional analysis of human mutations in homeodomain transcription factor PITX3
-
[PMID: 17888164]
-
Sakazume S, Sorokina E, Iwamoto Y, Semina EV. Functional analysis of human mutations in homeodomain transcription factor PITX3. BMC Mol Biol 2007; 8:84. [PMID: 17888164]
-
(2007)
BMC Mol Biol
, vol.8
, pp. 84
-
-
Sakazume, S.1
Sorokina, E.2
Iwamoto, Y.3
Semina, E.V.4
-
20
-
-
79953049313
-
Transcription factor PITX3 gene in Parkinson's disease
-
[PMID: 19394114]
-
Le W, Nguyen D, Lin XW, Rawal P, Huang M, Ding Y, Xie W, Deng H, Jankovic J. Transcription factor PITX3 gene in Parkinson's disease. Neurobiol Aging 2011; 32:750-3. [PMID: 19394114]
-
(2011)
Neurobiol Aging
, vol.32
, pp. 750-753
-
-
Le, W.1
Nguyen, D.2
Lin, X.W.3
Rawal, P.4
Huang, M.5
Ding, Y.6
Xie, W.7
Deng, H.8
Jankovic, J.9
|