-
1
-
-
0028074973
-
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects
-
Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Maas RL. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet 1994; 7:463-71.
-
(1994)
Nat Genet
, vol.7
, pp. 463-471
-
-
Glaser, T.1
Jepeal, L.2
Edwards, J.G.3
Young, S.R.4
Favor, J.5
Maas, R.L.6
-
2
-
-
1042268859
-
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea
-
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.
-
(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
-
3
-
-
0034425404
-
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
-
Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet 2000; 25:397-401.
-
(2000)
Nat Genet
, vol.25
, pp. 397-401
-
-
Ferda Percin, E.1
Ploder, L.A.2
Yu, J.J.3
Arici, K.4
Horsford, D.J.5
Rutherford, A.6
Bapat, B.7
Cox, D.W.8
Duncan, A.M.9
Kalnins, V.I.10
Kocak-Altintas, A.11
Sowden, J.C.12
Traboulsi, E.13
Sarfarazi, M.14
McInnes, R.R.15
-
4
-
-
0028966947
-
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
-
Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 1995; 9:358-64.
-
(1995)
Nat Genet
, vol.9
, pp. 358-364
-
-
Sanyanusin, P.1
Schimmenti, L.A.2
McNoe, L.A.3
Ward, T.A.4
Pierpont, M.E.5
Sullivan, M.J.6
Dobyns, W.B.7
Eccles, M.R.8
-
5
-
-
0028866995
-
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies
-
Schimmenti LA, Pierpont ME, Carpenter BL, Kashtan CE, Johnson MR, Dobyns WB. Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. Am J Med Genet 1995; 59:204-8.
-
(1995)
Am J Med Genet
, vol.59
, pp. 204-208
-
-
Schimmenti, L.A.1
Pierpont, M.E.2
Carpenter, B.L.3
Kashtan, C.E.4
Johnson, M.R.5
Dobyns, W.B.6
-
6
-
-
25644456873
-
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies
-
Hagstrom SA, Pauer GJ, Reid J, Simpson E, Crowe S, Maumenee IH, Traboulsi EI. SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Am J Med Genet A 2005; 138A:95-8.
-
(2005)
Am J Med Genet A
, vol.138 A
, pp. 95-98
-
-
Hagstrom, S.A.1
Pauer, G.J.2
Reid, J.3
Simpson, E.4
Crowe, S.5
Maumenee, I.H.6
Traboulsi, E.I.7
-
7
-
-
0031001710
-
The Rx homeobox gene is essential for vertebrate eye development
-
Mathers PH, Grinberg A, Mahon KA, Jamrich M. The Rx homeobox gene is essential for vertebrate eye development. Nature 1997; 387:603-7.
-
(1997)
Nature
, vol.387
, pp. 603-607
-
-
Mathers, P.H.1
Grinberg, A.2
Mahon, K.A.3
Jamrich, M.4
-
8
-
-
0031043386
-
Xrx1, a novel Xenopus homeobox gene expressed during eye and pineal gland development
-
Casarosa S, Andreazzoli M, Simeone A, Barsacchi G. Xrx1, a novel Xenopus homeobox gene expressed during eye and pineal gland development. Mech Dev 1997; 61:187-98.
-
(1997)
Mech Dev
, vol.61
, pp. 187-198
-
-
Casarosa, S.1
Andreazzoli, M.2
Simeone, A.3
Barsacchi, G.4
-
9
-
-
0032478268
-
Isolation of a Drosophila homolog of the vertebrate homeobox gene Rx and its possible role in brain and eye development
-
Eggert T, Hauck B, Hildebrandt N, Gehring WJ, 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.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 2343-2348
-
-
Eggert, T.1
Hauck, B.2
Hildebrandt, N.3
Gehring, W.J.4
Walldorf, U.5
-
10
-
-
0030979167
-
-
Furukawa T, Kozak CA, Cepko CL. rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retina. Proc Natl Acad Sci USA 1997; 94:3088-93.
-
Furukawa T, Kozak CA, Cepko CL. rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retina. Proc Natl Acad Sci USA 1997; 94:3088-93.
-
-
-
-
11
-
-
0034751812
-
Medaka eyeless is the key factor linking retinal determination and eye growth
-
Loosli F, Winkler S, Burgtorf C, Wurmbach E, Ansorge W, Henrich T, Grabher C, Arendt D, Carl M, Krone A, Grzebisz E, Wittbrodt J. Medaka eyeless is the key factor linking retinal determination and eye growth. Development 2001; 128:4035-44.
-
(2001)
Development
, vol.128
, pp. 4035-4044
-
-
Loosli, F.1
Winkler, S.2
Burgtorf, C.3
Wurmbach, E.4
Ansorge, W.5
Henrich, T.6
Grabher, C.7
Arendt, D.8
Carl, M.9
Krone, A.10
Grzebisz, E.11
Wittbrodt, J.12
-
12
-
-
0033167238
-
Identification of chick rax/rx genes with overlapping patterns of expression during early eye and brain development
-
Ohuchi H, Tomonari S, Itoh H, Mikawa T, Noji S. Identification of chick rax/rx genes with overlapping patterns of expression during early eye and brain development. Mech Dev 1999; 85:193-5.
-
(1999)
Mech Dev
, vol.85
, pp. 193-195
-
-
Ohuchi, H.1
Tomonari, S.2
Itoh, H.3
Mikawa, T.4
Noji, S.5
-
13
-
-
0035281520
-
Zebrafish genes rx1 and rx2 help define the region of forebrain that gives rise to retina
-
Chuang JC, Raymond PA. Zebrafish genes rx1 and rx2 help define the region of forebrain that gives rise to retina. Dev Biol 2001; 231:13-30.
-
(2001)
Dev Biol
, vol.231
, pp. 13-30
-
-
Chuang, J.C.1
Raymond, P.A.2
-
14
-
-
0034806042
-
The eyeless mouse mutation (ey1) removes an alternative start codon from the Rx/rax homeobox gene
-
Tucker P, Laemle L, Munson A, Kanekar S, Oliver ER, Brown N, Schlecht H, Vetter M, Glaser T. The eyeless mouse mutation (ey1) removes an alternative start codon from the Rx/rax homeobox gene. Genesis 2001; 31:43-53.
-
(2001)
Genesis
, vol.31
, pp. 43-53
-
-
Tucker, P.1
Laemle, L.2
Munson, A.3
Kanekar, S.4
Oliver, E.R.5
Brown, N.6
Schlecht, H.7
Vetter, M.8
Glaser, T.9
-
15
-
-
0033715815
-
Hes1, and notch1 promote the formation of Muller glia by postnatal retinal progenitor cells
-
Furukawa T, Mukherjee S, Bao ZZ, Morrow EM, Cepko CL. rax, Hes1, and notch1 promote the formation of Muller glia by postnatal retinal progenitor cells. Neuron 2000; 26:383-94.
-
(2000)
Neuron
, vol.26
, pp. 383-394
-
-
Furukawa, T.1
Mukherjee, S.2
Bao, Z.Z.3
Morrow, E.M.4
Cepko, C.L.5
rax6
-
16
-
-
0034020651
-
Regulation of eye formation by the Rx and pax6 homeobox genes
-
Mathers PH, Jamrich M. Regulation of eye formation by the Rx and pax6 homeobox genes. Cell Mol Life Sci 2000; 57:186-94.
-
(2000)
Cell Mol Life Sci
, vol.57
, pp. 186-194
-
-
Mathers, P.H.1
Jamrich, M.2
-
17
-
-
21644462569
-
Regulation of vertebrate eye development by Rx genes
-
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.
-
(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
-
18
-
-
0033034281
-
Role of Xrx1 in Xenopus eye and anterior brain development
-
Andreazzoli M, Gestri G, Angeloni D, Menna E, Barsacchi G. Role of Xrx1 in Xenopus eye and anterior brain development. Development 1999; 126:2451-60.
-
(1999)
Development
, vol.126
, pp. 2451-2460
-
-
Andreazzoli, M.1
Gestri, G.2
Angeloni, D.3
Menna, E.4
Barsacchi, G.5
-
19
-
-
0242550685
-
Xrx1 controls proliferation and neurogenesis in Xenopus anterior neural plate
-
Andreazzoli M, Gestri G, Cremisi F, Casarosa S, Dawid IB, Barsacchi G. Xrx1 controls proliferation and neurogenesis in Xenopus anterior neural plate. Development 2003; 130:5143-54.
-
(2003)
Development
, vol.130
, pp. 5143-5154
-
-
Andreazzoli, M.1
Gestri, G.2
Cremisi, F.3
Casarosa, S.4
Dawid, I.B.5
Barsacchi, G.6
-
20
-
-
52449090962
-
Confirmation of RAX gene involvement in human anophthalmia
-
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.
-
(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
-
21
-
-
0036713510
-
Human non-synonymous SNPs: Server and survey
-
Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002; 30:3894-900.
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
22
-
-
25144496606
-
PMUT: A web-based tool for the annotation of pathological mutations on proteins
-
Ferrer-Costa C, Gelpi JL, Zamakola L, Parraga I, de la Cruz X, Orozco M. PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 2005; 21:3176-8.
-
(2005)
Bioinformatics
, vol.21
, pp. 3176-3178
-
-
Ferrer-Costa, C.1
Gelpi, J.L.2
Zamakola, L.3
Parraga, I.4
de la Cruz, X.5
Orozco, M.6
-
23
-
-
0242322773
-
The genetic and molecular basis of congenital eye defects
-
Graw J. The genetic and molecular basis of congenital eye defects. Nat Rev Genet 2003; 4:876-88.
-
(2003)
Nat Rev Genet
, vol.4
, pp. 876-888
-
-
Graw, J.1
-
24
-
-
0017550649
-
Ocular pathology of the congenital varicella syndrome
-
Charles NC, Bennett TW, Margolis S. Ocular pathology of the congenital varicella syndrome. Arch Ophthalmol 1977; 95:2034-7.
-
(1977)
Arch Ophthalmol
, vol.95
, pp. 2034-2037
-
-
Charles, N.C.1
Bennett, T.W.2
Margolis, S.3
-
25
-
-
33751184627
-
Possible teratogenicity of maternal fever
-
Fraser FC, Skelton J. Possible teratogenicity of maternal fever. Lancet 1978; 2:634.
-
(1978)
Lancet
, vol.2
, pp. 634
-
-
Fraser, F.C.1
Skelton, J.2
-
26
-
-
0028500288
-
Anophthalmia and benomyl in Italy: A multicenter study based on 940,615 newborns
-
Spagnolo A, Bianchi F, Calabro A, Calzolari E, Clementi M, Mastroiacovo P, Meli P, Petrelli G, Tenconi R. Anophthalmia and benomyl in Italy: a multicenter study based on 940,615 newborns. Reprod Toxicol 1994; 8:397-403.
-
(1994)
Reprod Toxicol
, vol.8
, pp. 397-403
-
-
Spagnolo, A.1
Bianchi, F.2
Calabro, A.3
Calzolari, E.4
Clementi, M.5
Mastroiacovo, P.6
Meli, P.7
Petrelli, G.8
Tenconi, R.9
-
27
-
-
0842288531
-
Eye birth defects in humans may be caused by a recessively-inherited genetic predisposition to the effects of maternal vitamin A deficiency during pregnancy
-
Hornby SJ, Ward SJ, Gilbert CE. Eye birth defects in humans may be caused by a recessively-inherited genetic predisposition to the effects of maternal vitamin A deficiency during pregnancy. Med Sci Monit 2003; 9:HY23-6.
-
(2003)
Med Sci Monit
, vol.9
-
-
Hornby, S.J.1
Ward, S.J.2
Gilbert, C.E.3
-
28
-
-
0036131038
-
Environmental risk factors in congenital malformations of the eye
-
Hornby SJ, Ward SJ, Gilbert CE, Dandona L, Foster A, Jones RB. Environmental risk factors in congenital malformations of the eye. Ann Trop Paediatr 2002; 22:67-77.
-
(2002)
Ann Trop Paediatr
, vol.22
, pp. 67-77
-
-
Hornby, S.J.1
Ward, S.J.2
Gilbert, C.E.3
Dandona, L.4
Foster, A.5
Jones, R.B.6
-
29
-
-
0344953586
-
Mutations in SOX2 cause anophthalmia
-
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.
-
(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
-
30
-
-
20944448656
-
SOX2 anophthalmia syndrome
-
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.
-
(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
-
31
-
-
21044452878
-
Heterozygous mutations of OTX2 cause severe ocular malformations
-
Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM. Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet 2005; 76:1008-22.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 1008-1022
-
-
Ragge, N.K.1
Brown, A.G.2
Poloschek, C.M.3
Lorenz, B.4
Henderson, R.A.5
Clarke, M.P.6
Russell-Eggitt, I.7
Fielder, A.8
Gerrelli, D.9
Martinez-Barbera, J.P.10
Ruddle, P.11
Hurst, J.12
Collin, J.R.13
Salt, A.14
Cooper, S.T.15
Thompson, P.J.16
Sisodiya, S.M.17
Williamson, K.A.18
Fitzpatrick, D.R.19
van Heyningen, V.20
Hanson, I.M.21
more..
-
32
-
-
0031691918
-
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies
-
Cunliffe HE, McNoe LA, Ward TA, Devriendt K, Brunner HG, Eccles MR. The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. J Med Genet 1998; 35:806-12.
-
(1998)
J Med Genet
, vol.35
, pp. 806-812
-
-
Cunliffe, H.E.1
McNoe, L.A.2
Ward, T.A.3
Devriendt, K.4
Brunner, H.G.5
Eccles, M.R.6
-
33
-
-
0032826288
-
Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies
-
Gallardo ME, Lopez-Rios J, Fernaud-Espinosa I, Granadino B, Sanz R, Ramos C, Ayuso C, Seller MJ, Brunner HG, Bovolenta P, Rodríguez de Córdoba S. Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies. Genomics 1999; 61:82-91.
-
(1999)
Genomics
, vol.61
, pp. 82-91
-
-
Gallardo, M.E.1
Lopez-Rios, J.2
Fernaud-Espinosa, I.3
Granadino, B.4
Sanz, R.5
Ramos, C.6
Ayuso, C.7
Seller, M.J.8
Brunner, H.G.9
Bovolenta, P.10
Rodríguez de Córdoba, S.11
-
34
-
-
0037119585
-
Tissue-specific regulation of retinal and pituitary precursor cell proliferation
-
Li X, Perissi V, Liu F, Rose DW, Rosenfeld MG. Tissue-specific regulation of retinal and pituitary precursor cell proliferation. Science 2002; 297:1180-3.
-
(2002)
Science
, vol.297
, pp. 1180-1183
-
-
Li, X.1
Perissi, V.2
Liu, F.3
Rose, D.W.4
Rosenfeld, M.G.5
-
35
-
-
0037221992
-
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia
-
Schimmenti LA, de la Cruz J, Lewis RA, Karkera JD, Manligas GS, Roessler E, Muenke M. Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet A 2003; 116A:215-21.
-
(2003)
Am J Med Genet A
, vol.116 A
, pp. 215-221
-
-
Schimmenti, L.A.1
de la Cruz, J.2
Lewis, R.A.3
Karkera, J.D.4
Manligas, G.S.5
Roessler, E.6
Muenke, M.7
|