-
1
-
-
12144289950
-
Vascular development in the retina and inner ear: Control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair
-
Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, Jiang L, Tasman W, Zhang K, Nathans J. Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell. 2004;116:883-895.
-
(2004)
Cell
, vol.116
, pp. 883-895
-
-
Xu, Q.1
Wang, Y.2
Dabdoub, A.3
Smallwood, P.M.4
Williams, J.5
Woods, C.6
Kelley, M.W.7
Jiang, L.8
Tasman, W.9
Zhang, K.10
Nathans, J.11
-
2
-
-
3042528869
-
Astrocyte-endothelial cell relationships during human retinal vascular development
-
Chan-Ling T, McLeod DS, Hughes S, Baxter L, Chu Y, Hasegawa T, Lutty GA. Astrocyte-endothelial cell relationships during human retinal vascular development. Invest Ophthalmol Vis Sci. 2004;45:2020-2032.
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 2020-2032
-
-
Chan-Ling, T.1
McLeod, D.S.2
Hughes, S.3
Baxter, L.4
Chu, Y.5
Hasegawa, T.6
Lutty, G.A.7
-
3
-
-
33646270627
-
Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein
-
Allen RC, Russel SR, Streb LM, Alsheikheh A, Stone EM. Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein. Eye. 2006;20:234-241.
-
(2006)
Eye
, vol.20
, pp. 234-241
-
-
Allen, R.C.1
Russel, S.R.2
Streb, L.M.3
Alsheikheh, A.4
Stone, E.M.5
-
4
-
-
12144288372
-
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q
-
Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K, Ingelhearn CF. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet. 2004;74:721-730.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 721-730
-
-
Toomes, C.1
Bottomley, H.M.2
Jackson, R.M.3
Towns, K.V.4
Scott, S.5
Mackey, D.A.6
Craig, J.E.7
Jiang, L.8
Yang, Z.9
Trembath, R.10
Woodruff, G.11
Gregory-Evans, C.Y.12
Gregory-Evans, K.13
Parker, M.J.14
Black, G.C.15
Downey, L.M.16
Zhang, K.17
Ingelhearn, C.F.18
-
5
-
-
1342264760
-
Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)
-
Toomes C, Downey LM, Bottomley HM, Scott S, Woodruff G, Trembath RC, Ingelhearn CF. Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR). Mol Vis. 2004;10:37-42.
-
(2004)
Mol Vis
, vol.10
, pp. 37-42
-
-
Toomes, C.1
Downey, L.M.2
Bottomley, H.M.3
Scott, S.4
Woodruff, G.5
Trembath, R.C.6
Ingelhearn, C.F.7
-
6
-
-
0036789449
-
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy
-
Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dube MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, Siebert LF, Hoskin-Mott A, Trese MT, Pimstone SN, Shastry BS, Moon RT, Hayden MR, Goldberg YP, Samuels ME. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet. 2002;32:326-330.
-
(2002)
Nat Genet
, vol.32
, pp. 326-330
-
-
Robitaille, J.1
MacDonald, M.L.2
Kaykas, A.3
Sheldahl, L.C.4
Zeisler, J.5
Dube, M.P.6
Zhang, L.H.7
Singaraja, R.R.8
Guernsey, D.L.9
Zheng, B.10
Siebert, L.F.11
Hoskin-Mott, A.12
Trese, M.T.13
Pimstone, S.N.14
Shastry, B.S.15
Moon, R.T.16
Hayden, M.R.17
Goldberg, Y.P.18
Samuels, M.E.19
-
7
-
-
4844230621
-
The Frizzled family: Receptors for multiple signal transduction pathways
-
Huang HC, Klein PS. The Frizzled family: receptors for multiple signal transduction pathways. Genome Biol. 2004;5: 234.
-
(2004)
Genome Biol
, vol.5
, pp. 234
-
-
Huang, H.C.1
Klein, P.S.2
-
8
-
-
0036830126
-
Ligand receptor interactions in the Wnt signaling pathway in Drosophila
-
Wu C, Nusse R. Ligand receptor interactions in the Wnt signaling pathway in Drosophila. J Biol Chem. 2002;277:41762-41769.
-
(2002)
J Biol Chem
, vol.277
, pp. 41762-41769
-
-
Wu, C.1
Nusse, R.2
-
9
-
-
0842345541
-
Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy
-
Shastry BS, Trese MT. Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy. Eur J Genet. 2004;12:79-82.
-
(2004)
Eur J Genet
, vol.12
, pp. 79-82
-
-
Shastry, B.S.1
Trese, M.T.2
-
10
-
-
3142579195
-
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy
-
Toomes C, Bottomly HM, Scott S, Mackey DA, Craig JE, Appukuttan B, Stout JT, Flaxel CJ, Zhang K, Black GC, Fryer A, Downey LM, Ingelhearn CF. Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci. 2004;45:2083-2090.
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 2083-2090
-
-
Toomes, C.1
Bottomly, H.M.2
Scott, S.3
Mackey, D.A.4
Craig, J.E.5
Appukuttan, B.6
Stout, J.T.7
Flaxel, C.J.8
Zhang, K.9
Black, G.C.10
Fryer, A.11
Downey, L.M.12
Ingelhearn, C.F.13
-
11
-
-
6344241957
-
Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5
-
Jiao X, Ventruto V, Trese MT, Shastry BS, Hejtmancik JF. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. Am J Genet. 2004;75:878-884.
-
(2004)
Am J Genet
, vol.75
, pp. 878-884
-
-
Jiao, X.1
Ventruto, V.2
Trese, M.T.3
Shastry, B.S.4
Hejtmancik, J.F.5
-
12
-
-
14444268540
-
Autosomal recessive familial exudative vitreoretinopathy: Evidence for genetic heterogeneity
-
De Crecchio G, Simonelli F, Nunziata G, Mazzeo S, Grecco GM, Rinaldi E, Ventruto V, Ciccodicola A, Miano MG, Testa F, Curci A, D'Urso M, Rinaldi MM, Cavaliere ML, Casteluccio P. Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity. Clin Genet. 1998;54:315-320.
-
(1998)
Clin Genet
, vol.54
, pp. 315-320
-
-
De Crecchio, G.1
Simonelli, F.2
Nunziata, G.3
Mazzeo, S.4
Grecco, G.M.5
Rinaldi, E.6
Ventruto, V.7
Ciccodicola, A.8
Miano, M.G.9
Testa, F.10
Curci, A.11
D'Urso, M.12
Rinaldi, M.M.13
Cavaliere, M.L.14
Casteluccio, P.15
-
13
-
-
0029154918
-
Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy
-
Fuchs S, Kellner U, Wedemann H, Gal A. Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy. Hum Mutat. 1995;6:257-259.
-
(1995)
Hum Mutat
, vol.6
, pp. 257-259
-
-
Fuchs, S.1
Kellner, U.2
Wedemann, H.3
Gal, A.4
-
14
-
-
0031238615
-
Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy
-
Shastry BS, Liu X, Hejtmancik JF, Plager DA, Trese MT. Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy. Genomics. 1997;44:247-248.
-
(1997)
Genomics
, vol.44
, pp. 247-248
-
-
Shastry, B.S.1
Liu, X.2
Hejtmancik, J.F.3
Plager, D.A.4
Trese, M.T.5
-
15
-
-
0026641352
-
X-linked recessive familial exudative vitreoretinopathy
-
Plager DA, Orgel IK, Ellis FD, Hartzer M, Trese MT, Shastry BS. X-linked recessive familial exudative vitreoretinopathy. Am J Ophthalmol. 1992;44:145-148.
-
(1992)
Am J Ophthalmol
, vol.44
, pp. 145-148
-
-
Plager, D.A.1
Orgel, I.K.2
Ellis, F.D.3
Hartzer, M.4
Trese, M.T.5
Shastry, B.S.6
-
16
-
-
0030902358
-
Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy
-
Shastry BS, Hejtmansik FJ, Trese MT. Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. Hum Mutat. 1997;9:396-401.
-
(1997)
Hum Mutat
, vol.9
, pp. 396-401
-
-
Shastry, B.S.1
Hejtmansik, F.J.2
Trese, M.T.3
|