-
1
-
-
0036153367
-
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: Investigation of genetic aetiology
-
[PMID: 11826019]
-
Morrison D, FitzPatrick D, Hanson I, Williamson K, van Heyningen V, Fleck B, Jones I, Chalmers J, Campbell H. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J Med Genet 2002; 39:16-22. [PMID: 11826019]
-
(2002)
J Med Genet
, vol.39
, pp. 16-22
-
-
Morrison, D.1
FitzPatrick, D.2
Hanson, I.3
Williamson, K.4
van Heyningen, V.5
Fleck, B.6
Jones, I.7
Chalmers, J.8
Campbell, H.9
-
2
-
-
16344369421
-
Anophthalmia and microphthalmia in the Alberta Congenital Anomalies Surveillance System
-
[PMID: 15825528]
-
Lowry RB, Kohut R, Sibbald B, Rouleau J. Anophthalmia and microphthalmia in the Alberta Congenital Anomalies Surveillance System. Can J Ophthalmol 2005; 40:38-44. [PMID: 15825528]
-
(2005)
Can J Ophthalmol
, vol.40
, pp. 38-44
-
-
Lowry, R.B.1
Kohut, R.2
Sibbald, B.3
Rouleau, J.4
-
3
-
-
18844403140
-
The epidemiology of anophthalmia and microphthalmia in Sweden
-
[PMID: 15971507]
-
Källén B, Tornqvist K. The epidemiology of anophthalmia and microphthalmia in Sweden. Eur J Epidemiol 2005; 20:345-50. [PMID: 15971507]
-
(2005)
Eur J Epidemiol
, vol.20
, pp. 345-350
-
-
Källén, B.1
Tornqvist, K.2
-
5
-
-
0344953586
-
Mutations in SOX2 cause anophthalmia
-
[PMID: 12612584]
-
Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR. Mutations in SOX2 cause anophthalmia. Nat Genet 2003; 33:461-3. [PMID: 12612584]
-
(2003)
Nat Genet
, vol.33
, pp. 461-463
-
-
Fantes, J.1
Ragge, N.K.2
Lynch, S.A.3
McGill, N.I.4
Collin, J.R.5
Howard-Peebles, P.N.6
Hayward, C.7
Vivian, A.J.8
Williamson, K.9
van Heyningen, V.10
FitzPatrick, D.R.11
-
6
-
-
82255179304
-
Eye development genes and known syndromes
-
[PMID: 22005280]
-
Slavotinek AM. Eye development genes and known syndromes. Mol Genet Metab 2011; 104:448-56. [PMID: 22005280]
-
(2011)
Mol Genet Metab
, vol.104
, pp. 448-456
-
-
Slavotinek, A.M.1
-
7
-
-
20944448656
-
SOX2 anophthalmia syndrome
-
[PMID: 15812812]
-
Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V, Fitzpatrick DR. SOX2 anophthalmia syndrome. Am J Med Genet A 2005; 135:1-7. [PMID: 15812812]
-
(2005)
Am J Med Genet A
, vol.135
, pp. 1-7
-
-
Ragge, N.K.1
Lorenz, B.2
Schneider, A.3
Bushby, K.4
de Sanctis, L.5
de Sanctis, U.6
Salt, A.7
Collin, J.R.8
Vivian, A.J.9
Free, S.L.10
Thompson, P.11
Williamson, K.A.12
Sisodiya, S.M.13
van Heyningen, V.14
Fitzpatrick, D.R.15
-
8
-
-
0031001710
-
The Rx homeobox gene is essential for vertebrate eye development
-
[PMID: 9177348]
-
Mathers PH, Grinberg A, Mahon KA, Jamrich M. The Rx homeobox gene is essential for vertebrate eye development. Nature 1997; 387:603-7. [PMID: 9177348]
-
(1997)
Nature
, vol.387
, pp. 603-607
-
-
Mathers, P.H.1
Grinberg, A.2
Mahon, K.A.3
Jamrich, M.4
-
9
-
-
21644462569
-
Regulation of vertebrate eye development by Rx genes
-
[PMID: 15558469]
-
Bailey TJ, El-Hodiri H, Zhang L, Shah R, Mathers PH, Jamrich M. Regulation of vertebrate eye development by Rx genes. Int J Dev Biol 2004; 48:761-70. [PMID: 15558469]
-
(2004)
Int J Dev Biol
, vol.48
, pp. 761-770
-
-
Bailey, T.J.1
El-Hodiri, H.2
Zhang, L.3
Shah, R.4
Mathers, P.H.5
Jamrich, M.6
-
10
-
-
1042268859
-
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea
-
[PMID: 14662654]
-
Voronina VA, Kozhemyakina EA, O'Kernick CM, Kahn ND, Wenger SL, Linberg JV, Schneider AS, Mathers PH. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Hum Mol Genet 2004; 13:315-22. [PMID: 14662654]
-
(2004)
Hum Mol Genet
, vol.13
, pp. 315-322
-
-
Voronina, V.A.1
Kozhemyakina, E.A.2
O'Kernick, C.M.3
Kahn, N.D.4
Wenger, S.L.5
Linberg, J.V.6
Schneider, A.S.7
Mathers, P.H.8
-
11
-
-
52449090962
-
Confirmation of RAX gene involvement in human anophthalmia
-
[PMID: 18783408]
-
Lequeux L, Rio M, Vigouroux A, Titeux M, Etchevers H, Malecaze F, Chassaing N, Calvas P. Confirmation of RAX gene involvement in human anophthalmia. Clin Genet 2008; 74:392-5. [PMID: 18783408]
-
(2008)
Clin Genet
, vol.74
, pp. 392-395
-
-
Lequeux, L.1
Rio, M.2
Vigouroux, A.3
Titeux, M.4
Etchevers, H.5
Malecaze, F.6
Chassaing, N.7
Calvas, P.8
-
12
-
-
34848917270
-
Ten novel RB1 gene mutations in patients with retinoblastoma
-
[PMID: 17960112]
-
Abouzeid H, Munier FL, Thonney F, Schorderet DF. Ten novel RB1 gene mutations in patients with retinoblastoma. Mol Vis 2007; 13:1740-5. [PMID: 17960112]
-
(2007)
Mol Vis
, vol.13
, pp. 1740-1745
-
-
Abouzeid, H.1
Munier, F.L.2
Thonney, F.3
Schorderet, D.F.4
-
14
-
-
77955260735
-
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases
-
[PMID: 20494911]
-
Gonzalez-Rodriguez J, Pelcastre EL, Tovilla-Canales JL, Garcia-Ortiz JE, Amato-Almanza M, Villanueva-Mendoza C, Espinosa-Mattar Z, Zenteno JC. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. Br J Ophthalmol 2010; 94:1100-4. [PMID: 20494911]
-
(2010)
Br J Ophthalmol
, vol.94
, pp. 1100-1104
-
-
Gonzalez-Rodriguez, J.1
Pelcastre, E.L.2
Tovilla-Canales, J.L.3
Garcia-Ortiz, J.E.4
Amato-Almanza, M.5
Villanueva-Mendoza, C.6
Espinosa-Mattar, Z.7
Zenteno, J.C.8
-
15
-
-
58549105948
-
Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma
-
[PMID: 19158959]
-
London NJ, Kessler P, Williams B, Pauer GJ, Hagstrom SA, Traboulsi EI. Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma. Mol Vis 2009; 15:162-7. [PMID: 19158959]
-
(2009)
Mol Vis
, vol.15
, pp. 162-167
-
-
London, N.J.1
Kessler, P.2
Williams, B.3
Pauer, G.J.4
Hagstrom, S.A.5
Traboulsi, E.I.6
-
16
-
-
0032478268
-
Isolation of a Drosophila homolog of the vertebrate homeobox gene Rx and its possible role in brain and eye development
-
[PMID: 9482887]
-
Eggert T, Hauck B, Hildebrandt N, Gehring W, Walldorf U. Isolation of a Drosophila homolog of the vertebrate homeobox gene Rx and its possible role in brain and eye development. Proc Natl Acad Sci USA 1998; 95:2343-8. [PMID: 9482887]
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 2343-2348
-
-
Eggert, T.1
Hauck, B.2
Hildebrandt, N.3
Gehring, W.4
Walldorf, U.5
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