-
1
-
-
33746611539
-
Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies
-
Nolen L.D., Amor D., Haywood A., St Heaps L., Willcock C., Mihelec M., Tam P., Billson F., Grigg J., Peters G., Jamieson R.V. Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. Am. J. Med. Genet. A 2006, 140:1711-1718.
-
(2006)
Am. J. Med. Genet. A
, vol.140
, pp. 1711-1718
-
-
Nolen, L.D.1
Amor, D.2
Haywood, A.3
St Heaps, L.4
Willcock, C.5
Mihelec, M.6
Tam, P.7
Billson, F.8
Grigg, J.9
Peters, G.10
Jamieson, R.V.11
-
2
-
-
35648992431
-
Bone morphogenetic proteins specify the retinal pigment epithelium in the chick embryo
-
Muller F., Rohrer H., Vogel-Hopker A. Bone morphogenetic proteins specify the retinal pigment epithelium in the chick embryo. Development 2007, 134:3483-3493.
-
(2007)
Development
, vol.134
, pp. 3483-3493
-
-
Muller, F.1
Rohrer, H.2
Vogel-Hopker, A.3
-
3
-
-
0034949051
-
Otx genes are required for tissue specification in the developing eye
-
Martinez-Morales J.R., Signore M., Acampora D., Simeone A., Bovolenta P. Otx genes are required for tissue specification in the developing eye. Development 2001, 128:2019-2030.
-
(2001)
Development
, vol.128
, pp. 2019-2030
-
-
Martinez-Morales, J.R.1
Signore, M.2
Acampora, D.3
Simeone, A.4
Bovolenta, P.5
-
4
-
-
40749090053
-
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways
-
Bakrania P., Efthymiou M., Klein J.C., Salt A., Bunyan D.J., Wyatt A., Ponting C.P., Martin A., Williams S., Lindley V., Gilmore J., Restori M., Robson A.G., Neveu M.M., Holder G.E., Collin J.R., Robinson D.O., Farndon P., Johansen-Berg H., Gerrelli D., Ragge N.K. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am. J. Hum. Genet. 2008, 82:304-319.
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 304-319
-
-
Bakrania, P.1
Efthymiou, M.2
Klein, J.C.3
Salt, A.4
Bunyan, D.J.5
Wyatt, A.6
Ponting, C.P.7
Martin, A.8
Williams, S.9
Lindley, V.10
Gilmore, J.11
Restori, M.12
Robson, A.G.13
Neveu, M.M.14
Holder, G.E.15
Collin, J.R.16
Robinson, D.O.17
Farndon, P.18
Johansen-Berg, H.19
Gerrelli, D.20
Ragge, N.K.21
more..
-
5
-
-
21044452878
-
Heterozygous mutations of OTX2 cause severe ocular malformations
-
Ragge N.K., Brown A.G., Poloschek C.M., Lorenz B., Henderson R.A., Clarke M.P., Russell-Eggitt I., Fielder A., Gerrelli D., Martinez-Barbera J.P., Ruddle P., Hurst J., Collin J.R., Salt A., Cooper S.T., Thompson P.J., Sisodiya S.M., Williamson K.A., Fitzpatrick D.R., van Heyningen V., Hanson I.M. Heterozygous mutations of OTX2 cause severe ocular malformations. Am. J. Hum. Genet. 2005, 76:1008-1022.
-
(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..
-
6
-
-
18744366421
-
Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure
-
Chang B., Smith R.S., Peters M., Savinova O.V., Hawes N.L., Zabaleta A., Nusinowitz S., Martin J.E., Davisson M.L., Cepko C.L., Hogan B.L., John S.W. Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure. BMC Genet. 2001, 2:18.
-
(2001)
BMC Genet.
, vol.2
, pp. 18
-
-
Chang, B.1
Smith, R.S.2
Peters, M.3
Savinova, O.V.4
Hawes, N.L.5
Zabaleta, A.6
Nusinowitz, S.7
Martin, J.E.8
Davisson, M.L.9
Cepko, C.L.10
Hogan, B.L.11
John, S.W.12
-
7
-
-
0028895055
-
Mouse Otx2 functions in the formation and patterning of rostral head
-
Matsuo I., Kuratani S., Kimura C., Takeda N., Aizawa S. Mouse Otx2 functions in the formation and patterning of rostral head. Genes Dev. 1995, 9:2646-2658.
-
(1995)
Genes Dev.
, vol.9
, pp. 2646-2658
-
-
Matsuo, I.1
Kuratani, S.2
Kimura, C.3
Takeda, N.4
Aizawa, S.5
-
8
-
-
3343016617
-
Eye development: a view from the retina pigmented epithelium
-
Martinez-Morales J.R., Rodrigo I., Bovolenta P. Eye development: a view from the retina pigmented epithelium. Bioessays 2004, 26:766-777.
-
(2004)
Bioessays
, vol.26
, pp. 766-777
-
-
Martinez-Morales, J.R.1
Rodrigo, I.2
Bovolenta, P.3
-
9
-
-
0034176640
-
Coincidence of otx2 and BMP4 signaling correlates with Xenopus cement gland formation
-
Gammill L.S., Sive H. Coincidence of otx2 and BMP4 signaling correlates with Xenopus cement gland formation. Mech. Dev. 2000, 92:217-226.
-
(2000)
Mech. Dev.
, vol.92
, pp. 217-226
-
-
Gammill, L.S.1
Sive, H.2
-
10
-
-
33845631572
-
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients
-
Tompson S.W., Ruiz-Perez V.L., Blair H.J., Barton S., Navarro V., Robson J.L., Wright M.J., Goodship J.A. Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum. Genet. 2007, 120:663-670.
-
(2007)
Hum. Genet.
, vol.120
, pp. 663-670
-
-
Tompson, S.W.1
Ruiz-Perez, V.L.2
Blair, H.J.3
Barton, S.4
Navarro, V.5
Robson, J.L.6
Wright, M.J.7
Goodship, J.A.8
-
11
-
-
82255179304
-
Eye development genes and known syndromes
-
Slavotinek A.M. Eye development genes and known syndromes. Mol. Genet. Metab. 2011, 104:448-456.
-
(2011)
Mol. Genet. Metab.
, vol.104
, pp. 448-456
-
-
Slavotinek, A.M.1
-
12
-
-
56049112819
-
Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly
-
Hayashi S., Okamoto N., Makita Y., Hata A., Imoto I., Inazawa J. Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly. Am. J. Med. Genet. A 2008, 146A:2905-2910.
-
(2008)
Am. J. Med. Genet. A
, vol.146 A
, pp. 2905-2910
-
-
Hayashi, S.1
Okamoto, N.2
Makita, Y.3
Hata, A.4
Imoto, I.5
Inazawa, J.6
-
13
-
-
84861223447
-
Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2
-
Lumaka A., Van Hole C., Casteels I., Ortibus E., De Wolf V., Vermeesch J.R., Lukusa T., Devriendt K. Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2. Am. J. Med. Genet. A 2012, 158A:1381-1387.
-
(2012)
Am. J. Med. Genet. A
, vol.158 A
, pp. 1381-1387
-
-
Lumaka, A.1
Van Hole, C.2
Casteels, I.3
Ortibus, E.4
De Wolf, V.5
Vermeesch, J.R.6
Lukusa, T.7
Devriendt, K.8
-
14
-
-
55549118950
-
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma
-
Wyatt A., Bakrania P., Bunyan D.J., Osborne R.J., Crolla J.A., Salt A., Ayuso C., Newbury-Ecob R., Abou-Rayyah Y., Collin J.R., Robinson D., Ragge N. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum. Mutat. 2008, 29:E278-E283.
-
(2008)
Hum. Mutat.
, vol.29
-
-
Wyatt, A.1
Bakrania, P.2
Bunyan, D.J.3
Osborne, R.J.4
Crolla, J.A.5
Salt, A.6
Ayuso, C.7
Newbury-Ecob, R.8
Abou-Rayyah, Y.9
Collin, J.R.10
Robinson, D.11
Ragge, N.12
-
15
-
-
80054867601
-
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
-
Reis L.M., Tyler R.C., Schilter K.F., Abdul-Rahman O., Innis J.W., Kozel B.A., Schneider A.S., Bardakjian T.M., Lose E.J., Martin D.M., Broeckel U., Semina E.V. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Hum. Genet. 2011, 130:495-504.
-
(2011)
Hum. Genet.
, vol.130
, pp. 495-504
-
-
Reis, L.M.1
Tyler, R.C.2
Schilter, K.F.3
Abdul-Rahman, O.4
Innis, J.W.5
Kozel, B.A.6
Schneider, A.S.7
Bardakjian, T.M.8
Lose, E.J.9
Martin, D.M.10
Broeckel, U.11
Semina, E.V.12
-
16
-
-
84862205655
-
Anophthalmia/microphthalmia overview
-
University of Washington, Seattle, Seattle (WA), R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.)
-
Bardakjian T., Weiss A., Schneider A. Anophthalmia/microphthalmia overview. GeneReviews [Internet] 2004, University of Washington, Seattle, Seattle (WA). R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.).
-
(2004)
GeneReviews [Internet]
-
-
Bardakjian, T.1
Weiss, A.2
Schneider, A.3
|