-
1
-
-
0034818275
-
Cell type specific expression of vascular endothelial growth factor and angiopoietin-1 and -2 suggests an important role of astrocytes in cerebellar vascularization
-
Acker, T., Beck, H. Plate, K.H. (2001) Cell type specific expression of vascular endothelial growth factor and angiopoietin-1 and -2 suggests an important role of astrocytes in cerebellar vascularization. Mech. Dev., 108, 45 57.
-
(2001)
Mech. Dev.
, vol.108
, pp. 45-57
-
-
Acker, T.1
Beck, H.2
Plate, K.H.3
-
2
-
-
0031740305
-
Molecular dissection of Norrie disease
-
Berger, W. (1998) Molecular dissection of Norrie disease. Acta Anat. (Basel), 162, 95 100.
-
(1998)
Acta Anat. (Basel)
, vol.162
, pp. 95-100
-
-
Berger, W.1
-
3
-
-
0026878927
-
Isolation of a candidate gene for Norrie disease by positional cloning
-
Berger, W., Meindl, A., van de Pol, T.J., Cremers, F.P., Ropers, H.H., Doerner, C., Monaco, A., Bergen, A.A., Lebo, R., Warburg, M., Zergollen, L., Lorenz, B., Gal, A., Bleeker-Wagemakers, E.M. Meitinger, T. (1992a) Isolation of a candidate gene for Norrie disease by positional cloning. Nat. Genet., 1, 199 203.
-
(1992)
Nat. Genet.
, vol.1
, pp. 199-203
-
-
Berger, W.1
Meindl, A.2
Van De Pol, T.J.3
Cremers, F.P.4
Ropers, H.H.5
Doerner, C.6
Monaco, A.7
Bergen, A.A.8
Lebo, R.9
Warburg, M.10
Zergollen, L.11
Lorenz, B.12
Gal, A.13
Bleeker-Wagemakers, E.M.14
Meitinger, T.15
-
4
-
-
0026938038
-
Mutations in the candidate gene for Norrie disease
-
Berger, W., van de Pol, D., Warburg, M., Gal, A., Bleeker-Wagemakers, L., de Silva, H., Meindl, A., Meitinger, T., Cremers, F. Ropers, H.H. (1992b) Mutations in the candidate gene for Norrie disease. Hum. Mol. Genet., 1, 461 465.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 461-465
-
-
Berger, W.1
Van De Pol, D.2
Warburg, M.3
Gal, A.4
Bleeker-Wagemakers, L.5
De Silva, H.6
Meindl, A.7
Meitinger, T.8
Cremers, F.9
Ropers, H.H.10
-
5
-
-
0030044029
-
An animal model for Norrie disease (ND): Gene targeting of the mouse ND gene
-
Berger, W., van de Pol, D., Bachner, D., Oerlemans, F., Winkens, H., Hameister, H., Wieringa, B., Hendriks, W. Ropers, H.H. (1996) An animal model for Norrie disease (ND): gene targeting of the mouse ND gene. Hum. Mol. Genet., 5, 51 59.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 51-59
-
-
Berger, W.1
Van De Pol, D.2
Bachner, D.3
Oerlemans, F.4
Winkens, H.5
Hameister, H.6
Wieringa, B.7
Hendriks, W.8
Ropers, H.H.9
-
6
-
-
0032837154
-
Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: A role for norrin in retinal angiogenesis
-
Black, G.C., Perveen, R., Bonshek, R., Cahill, M., Clayton-Smith, J., Lloyd, I.C. McLeod, D. (1999) Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. Hum. Mol. Genet., 8, 2031 2035.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2031-2035
-
-
Black, G.C.1
Perveen, R.2
Bonshek, R.3
Cahill, M.4
Clayton-Smith, J.5
Lloyd, I.C.6
McLeod, D.7
-
7
-
-
0026879015
-
Isolation and characterization of a candidate gene for Norrie disease
-
Chen, Z.Y., Hendriks, R.W., Jobling, M.A., Powell, J.F., Breakefield, X.O., Sims, K.B. Craig, I.W. (1992) Isolation and characterization of a candidate gene for Norrie disease. Nat. Genet., 1, 204 208.
-
(1992)
Nat. Genet.
, vol.1
, pp. 204-208
-
-
Chen, Z.Y.1
Hendriks, R.W.2
Jobling, M.A.3
Powell, J.F.4
Breakefield, X.O.5
Sims, K.B.6
Craig, I.W.7
-
8
-
-
17844366846
-
Wnts in the vertebrate nervous system: From patterning to neuronal connectivity
-
Ciani, L. Salinas, P.C. (2005) Wnts in the vertebrate nervous system: from patterning to neuronal connectivity. Nat. Rev. Neurosci., 6, 351 362.
-
(2005)
Nat. Rev. Neurosci.
, vol.6
, pp. 351-362
-
-
Ciani, L.1
Salinas, P.C.2
-
9
-
-
10444230535
-
Cerebellar lesions in the PICA but not SCA territory impair cognition
-
Exner, C., Weniger, G. Irle, E. (2004) Cerebellar lesions in the PICA but not SCA territory impair cognition. Neurology, 63, 2132 2135.
-
(2004)
Neurology
, vol.63
, pp. 2132-2135
-
-
Exner, C.1
Weniger, G.2
Irle, E.3
-
10
-
-
0028324445
-
A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease
-
Fuchs, S., Xu, S.Y., Caballero, M., Salcedo, M., La, O.A., Wedemann, H. Gal, A. (1994) A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease. Hum. Mol. Genet., 3, 655 656.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 655-656
-
-
Fuchs, S.1
Xu, S.Y.2
Caballero, M.3
Salcedo, M.4
La, O.A.5
Wedemann, H.6
Gal, A.7
-
11
-
-
0027379307
-
Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families
-
Fuentes, J.J., Volpini, V., Fernandez-Toral, F., Coto, E. Estivill, X. (1993) Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families. Hum. Mol. Genet., 2, 1953 1955.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1953-1955
-
-
Fuentes, J.J.1
Volpini, V.2
Fernandez-Toral, F.3
Coto, E.4
Estivill, X.5
-
12
-
-
34249664383
-
The cerebellum and cognition
-
Gordon, N. (2007) The cerebellum and cognition. Eur. J. Paediatr. Neurol., 11, 232 234.
-
(2007)
Eur. J. Paediatr. Neurol.
, vol.11
, pp. 232-234
-
-
Gordon, N.1
-
13
-
-
22244448351
-
Audiologic features of Norrie disease
-
Halpin, C., Owen, G., Gutierrez-Espeleta, G.A., Sims, K. Rehm, H.L. (2005) Audiologic features of Norrie disease. Ann. Otol. Rhinol. Laryngol., 114, 533 538.
-
(2005)
Ann. Otol. Rhinol. Laryngol.
, vol.114
, pp. 533-538
-
-
Halpin, C.1
Owen, G.2
Gutierrez-Espeleta, G.A.3
Sims, K.4
Rehm, H.L.5
-
14
-
-
0025825013
-
Epileptogenic effect of hypoxia in the immature rodent brain
-
Jensen, F.E., Applegate, C.D., Holtzman, D., Belin, T.R. Burchfiel, J.L. (1991) Epileptogenic effect of hypoxia in the immature rodent brain. Ann. Neurol., 29, 629 637.
-
(1991)
Ann. Neurol.
, vol.29
, pp. 629-637
-
-
Jensen, F.E.1
Applegate, C.D.2
Holtzman, D.3
Belin, T.R.4
Burchfiel, J.L.5
-
15
-
-
34247877648
-
A novel missense mutation in the ND gene in a child with Norrie disease and severe neurological involvement including infantile spasms
-
Lev, D., Weigel, Y., Hasan, M., Gak, E., Davidovich, M., Vinkler, C., Leshinsky-Silver, E., Lerman-Sagie, T. Watemberg, N. (2007) A novel missense mutation in the ND gene in a child with Norrie disease and severe neurological involvement including infantile spasms. Am. J. Hum. Genet., 143, 921 924.
-
(2007)
Am. J. Hum. Genet.
, vol.143
, pp. 921-924
-
-
Lev, D.1
Weigel, Y.2
Hasan, M.3
Gak, E.4
Davidovich, M.5
Vinkler, C.6
Leshinsky-Silver, E.7
Lerman-Sagie, T.8
Watemberg, N.9
-
16
-
-
33748744620
-
Evaluation of uncertainty in quantitative real-time PCR
-
Love, J.L., Scholes, P., Gilpin, B., Savill, M., Lin, S. Samuel, L. (2006) Evaluation of uncertainty in quantitative real-time PCR. J. Microbiol. Methods, 67, 349 356.
-
(2006)
J. Microbiol. Methods
, vol.67
, pp. 349-356
-
-
Love, J.L.1
Scholes, P.2
Gilpin, B.3
Savill, M.4
Lin, S.5
Samuel, L.6
-
17
-
-
27244446782
-
Role of the Norrie Disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature
-
Luhmann, U.F.O., Lin, J., Acar, N., Lammel, S., Feil, S., Grimm, C., Seeliger, M.W., Hammes, H.P. Berger, W. (2005) Role of the Norrie Disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature. Invest. Ophthalmol. Vis. Sci., 46, 3372 3382.
-
(2005)
Invest. Ophthalmol. Vis. Sci.
, vol.46
, pp. 3372-3382
-
-
Luhmann, U.F.O.1
Lin, J.2
Acar, N.3
Lammel, S.4
Feil, S.5
Grimm, C.6
Seeliger, M.W.7
Hammes, H.P.8
Berger, W.9
-
18
-
-
0032431037
-
Systemic hypoxia changes the organ-specific distribution of vascular endothelial growth factor and its receptors
-
Marti, H.H. Risau, W. (1998) Systemic hypoxia changes the organ-specific distribution of vascular endothelial growth factor and its receptors. Proc. Natl Acad. Sci. USA, 95, 15809 15814.
-
(1998)
Proc. Natl Acad. Sci. USA
, vol.95
, pp. 15809-15814
-
-
Marti, H.H.1
Risau, W.2
-
19
-
-
3142543144
-
Norrie gene product is necessary for regression of hyaloid vessels
-
Ohlmann, A.V., Adamek, E., Ohlmann, A. Lutjen-Drecoll, E. (2004) Norrie gene product is necessary for regression of hyaloid vessels. Invest. Ophthalmol. Vis. Sci., 45, 2384 2390.
-
(2004)
Invest. Ophthalmol. Vis. Sci.
, vol.45
, pp. 2384-2390
-
-
Ohlmann, A.V.1
Adamek, E.2
Ohlmann, A.3
Lutjen-Drecoll, E.4
-
20
-
-
20044387404
-
Ectopic Norrin Induces growth of ocular capillaries and restores normal retinal angiogenesis in Norrie disease mutant mice
-
Ohlmann, A., Scholz, M., Goldwich, A., Chauhan, B.K., Hudl, K., Ohlmann, A.V., Zrenner, E., Berger, W., Cvekl, A., Seeliger, M.W. Tamm, E.R. (2005) Ectopic Norrin Induces growth of ocular capillaries and restores normal retinal angiogenesis in Norrie disease mutant mice. J. Neurosci., 25, 1701 1710.
-
(2005)
J. Neurosci.
, vol.25
, pp. 1701-1710
-
-
Ohlmann, A.1
Scholz, M.2
Goldwich, A.3
Chauhan, B.K.4
Hudl, K.5
Ohlmann, A.V.6
Zrenner, E.7
Berger, W.8
Cvekl, A.9
Seeliger, M.W.10
Tamm, E.R.11
-
21
-
-
0032932138
-
Hypoxia inducible factor-1alpha is increased in ischemic retina: Temporal and spatial correlation with VEGF expression
-
Ozaki, H., Yu, A.Y., Della, N., Ozaki, K., Luna, J.D., Yamada, H., Hackett, S.F., Okamoto, N., Zack, D.J., Semenza, G.L. Campochiaro, P.A. (1999) Hypoxia inducible factor-1alpha is increased in ischemic retina: temporal and spatial correlation with VEGF expression. Invest. Ophthalmol. Vis. Sci., 40, 182 189.
-
(1999)
Invest. Ophthalmol. Vis. Sci.
, vol.40
, pp. 182-189
-
-
Ozaki, H.1
Yu, A.Y.2
Della, N.3
Ozaki, K.4
Luna, J.D.5
Yamada, H.6
Hackett, S.F.7
Okamoto, N.8
Zack, D.J.9
Semenza, G.L.10
Campochiaro, P.A.11
-
22
-
-
0034084768
-
Roles of Wnt proteins in neural development and maintenance
-
Patapoutian, A. Reichardt, L.F. (2000) Roles of Wnt proteins in neural development and maintenance. Curr. Opin. Neurobiol., 10, 392 399.
-
(2000)
Curr. Opin. Neurobiol.
, vol.10
, pp. 392-399
-
-
Patapoutian, A.1
Reichardt, L.F.2
-
23
-
-
0036615753
-
Vascular defects and sensorineural deafness in a mouse model of Norrie disease
-
Rehm, H.L., Zhang, D.S., Brown, M.C., Burgess, B., Halpin, C., Berger, W., Morton, C.C., Corey, D.P. Chen, Z.Y. (2002) Vascular defects and sensorineural deafness in a mouse model of Norrie disease. J. Neurosci., 22, 4286 4292.
-
(2002)
J. Neurosci.
, vol.22
, pp. 4286-4292
-
-
Rehm, H.L.1
Zhang, D.S.2
Brown, M.C.3
Burgess, B.4
Halpin, C.5
Berger, W.6
Morton, C.C.7
Corey, D.P.8
Chen, Z.Y.9
-
24
-
-
0031764508
-
Retinal vasculature changes in Norrie disease mice
-
Richter, M., Gottanka, J., May, C.A., Welge-Lussen, U., Berger, W. Lutjen-Drecoll, E. (1998) Retinal vasculature changes in Norrie disease mice. Invest. Ophthalmol. Vis. Sci., 39, 2450 2457.
-
(1998)
Invest. Ophthalmol. Vis. Sci.
, vol.39
, pp. 2450-2457
-
-
Richter, M.1
Gottanka, J.2
May, C.A.3
Welge-Lussen, U.4
Berger, W.5
Lutjen-Drecoll, E.6
-
25
-
-
0036789449
-
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy
-
Robitaille, J., MacDonald, M.L., Kaykas, A., Sheldahl, L.C., Zeisler, J., Dube, M.P., Zhang, L.H., Singaraja, R.R., Guernsey, D.L., Zheng, B., Siebert, L.F., Hoskin-Mott, A., Trese, M.T., Pimstone, S.N., Shastry, B.S., Moon, R.T., Hayden, M.R., Goldberg, Y.P. Samuels, M.E. (2002) Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat. Genet., 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
-
26
-
-
0029024216
-
Mutations in the Norrie disease gene
-
Schuback, D.E., Chen, Z.Y., Craig, I.W., Breakefield, X.O. Sims, K.B. (1995) Mutations in the Norrie disease gene. Hum. Mutat., 5, 285 292.
-
(1995)
Hum. Mutat.
, vol.5
, pp. 285-292
-
-
Schuback, D.E.1
Chen, Z.Y.2
Craig, I.W.3
Breakefield, X.O.4
Sims, K.B.5
-
27
-
-
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, B.S., Hejtmancik, J.F. Trese, M.T. (1997a) 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., 9, 396 401.
-
(1997)
Hum. Mutat.
, vol.9
, pp. 396-401
-
-
Shastry, B.S.1
Hejtmancik, J.F.2
Trese, M.T.3
-
28
-
-
0030919857
-
Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity
-
Shastry, B.S., Pendergast, S.D., Hartzer, M.K., Liu, X. Trese, M.T. (1997b) Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity. Arch. Ophthalmol., 115, 651 655.
-
(1997)
Arch. Ophthalmol.
, vol.115
, pp. 651-655
-
-
Shastry, B.S.1
Pendergast, S.D.2
Hartzer, M.K.3
Liu, X.4
Trese, M.T.5
-
29
-
-
12144288372
-
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q
-
Toomes, C., Bottomley, H.M., Jackson, R.M., Towns, K.V., Scott, S., Mackey, D.A., Craig, J.E., Jiang, L., Yang, Z., Trembath, R., Woodruff, G., Gregory-Evans, C.Y., Gregory-Evans, K., Parker, M.J., Black, G.C., Downey, L.M., Zhang, K. Inglehearn, C.F. (2004) Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am. J. Hum. Genet., 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
Inglehearn, C.F.18
-
30
-
-
33750700837
-
Mental retardation and epilepsy in patients with isolated cerebellar hypoplasia
-
Ventura, P., Presicci, A., Perniola, T., Campa, M.G. Margari, L. (2006) Mental retardation and epilepsy in patients with isolated cerebellar hypoplasia. J. Child Neurol., 21, 776 781.
-
(2006)
J. Child Neurol.
, vol.21
, pp. 776-781
-
-
Ventura, P.1
Presicci, A.2
Perniola, T.3
Campa, M.G.4
Margari, L.5
-
31
-
-
0035399638
-
Progressive cerebellar, auditory, and esophageal dysfunction caused by targeted disruption of the frizzled-4 gene
-
Wang, Y., Huso, D., Cahill, H., Ryugo, D. Nathans, J. (2001) Progressive cerebellar, auditory, and esophageal dysfunction caused by targeted disruption of the frizzled-4 gene. J. Neurosci., 21, 4761 4771.
-
(2001)
J. Neurosci.
, vol.21
, pp. 4761-4771
-
-
Wang, Y.1
Huso, D.2
Cahill, H.3
Ryugo, D.4
Nathans, J.5
-
32
-
-
0000988972
-
Norrie's disease. a congenital progressive oculo-acoustico-cerebral degeneration
-
Warburg, M. (1966) Norrie's disease. A congenital progressive oculo-acoustico-cerebral degeneration. Acta Ophthalmol. Suppl., 89, 5 147.
-
(1966)
Acta Ophthalmol. Suppl.
, vol.89
, pp. 5-147
-
-
Warburg, M.1
-
33
-
-
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, P.M., Williams, J., Woods, C., Kelley, M.W., Jiang, L., Tasman, W., Zhang, K. Nathans, J. (2004) Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell, 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
-
34
-
-
0035871932
-
Two Thai families with Norrie disease (ND): Association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier
-
Yamada, K., Limprasert, P., Ratanasukon, M., Tengtrisorn, S., Yingchareonpukdee, J., Vasiknanonte, P., Kitaoka, T., Ghadami, M., Niikawa, N. Kishino, T. (2001) Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier. Am. J. Med. Genet., 100, 52 55.
-
(2001)
Am. J. Med. Genet.
, vol.100
, pp. 52-55
-
-
Yamada, K.1
Limprasert, P.2
Ratanasukon, M.3
Tengtrisorn, S.4
Yingchareonpukdee, J.5
Vasiknanonte, P.6
Kitaoka, T.7
Ghadami, M.8
Niikawa, N.9
Kishino, T.10
-
35
-
-
0035895711
-
Signaling transduction mechanisms mediating biological actions of the vascular endothelial growth factor family
-
Zachary, I. Gliki, G. (2001) Signaling transduction mechanisms mediating biological actions of the vascular endothelial growth factor family. Cardiovasc. Res., 49, 568 581.
-
(2001)
Cardiovasc. Res.
, vol.49
, pp. 568-581
-
-
Zachary, I.1
Gliki, G.2
|