-
2
-
-
11944267671
-
A genetic study of type 2 neurofibromatosis in the United Kingdom. I: Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity
-
Evans DGR, Huson SM, Donnai D, et al. A genetic study of type 2 neurofibromatosis in the United Kingdom. I: Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet 1992;29:841-846.
-
(1992)
J Med Genet
, vol.29
, pp. 841-846
-
-
Evans, D.G.R.1
Huson, S.M.2
Donnai, D.3
-
3
-
-
77951065685
-
-
Baser ME, Friedman JM, Wallace AJ, Ramsden RT, Joe H, Evans DG. Evaluation of clinical diagnostic criteria for neurofibromatosis
-
Evaluation of Clinical Diagnostic Criteria for Neurofibromatosis
-
-
Baser, M.E.1
Friedman, J.M.2
Wallace, A.J.3
Ramsden, R.T.4
Joe, H.5
Evans, D.G.6
-
4
-
-
77951081017
-
-
Neurology 2006;59:1759-1765.
-
(2006)
Neurology
, vol.59
, pp. 1759-1765
-
-
-
5
-
-
0037323824
-
Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas
-
Kluwe L, Mautner V, Heinrich B, et al. Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. J Med Genet 2003;40:109-114.
-
(2003)
J Med Genet
, vol.40
, pp. 109-114
-
-
Kluwe, L.1
Mautner, V.2
Heinrich, B.3
-
6
-
-
0029774092
-
Germline mutations in the neurofibromatosis 2 gene: Correlations with disease severity and retinal abnormalities
-
Parry DM, MacCollin MM, Kaiser-Kupfer MI, et al. Germline mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet 1996;59:529-539.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 529-539
-
-
Parry, D.M.1
MacCollin, M.M.2
Kaiser-Kupfer, M.I.3
-
7
-
-
0027937181
-
Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity
-
Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Patronas N. Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 1994;52:450-461.
-
(1994)
Am J Med Genet
, vol.52
, pp. 450-461
-
-
Parry, D.M.1
Eldridge, R.2
Kaiser-Kupfer, M.I.3
Bouzas, E.A.4
Pikus, A.5
Patronas, N.6
-
8
-
-
0026779944
-
Ocular findings associated with neurofibromatosis type II
-
Kaye LD, Rothner A, Beauchamp GR, et al. Ocular findings associated with neurofibromatosis type II. Ophthalmology 1992;99:1424-1429.
-
(1992)
Ophthalmology
, vol.99
, pp. 1424-1429
-
-
Kaye, L.D.1
Rothner, A.2
Beauchamp, G.R.3
-
10
-
-
3242661620
-
Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: A population-based study
-
Baser ME, Kuramoto L, Joe H, et al. Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study. Am J Hum Genet 2004;75:231-239.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 231-239
-
-
Baser, M.E.1
Kuramoto, L.2
Joe, H.3
-
13
-
-
33744822484
-
Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2
-
Bosch MM, Boltshauser E, Harpes P, Landau K. Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2. Am J Ophthalmol 2006;141:1068-1077.
-
(2006)
Am J Ophthalmol
, vol.141
, pp. 1068-1077
-
-
Bosch, M.M.1
Boltshauser, E.2
Harpes, P.3
Landau, K.4
-
14
-
-
19244362433
-
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease
-
Ruttledge MH, Andermann AA, Phelan CM, et al. Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet 1996;59:331-342.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 331-342
-
-
Ruttledge, M.H.1
Andermann, A.A.2
Phelan, C.M.3
-
15
-
-
0036780708
-
Predictors of the risk of mortality in neurofibromatosis 2
-
Baser ME, Friedman M, Aeschliman D, et al. Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet 2002;71:715-723.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 715-723
-
-
Baser, M.E.1
Friedman, M.2
Aeschliman, D.3
-
16
-
-
0031799509
-
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): Evidence for more severe disease associated with truncating mutations
-
Evans DG, Trueman L, Wallace A, Collins S, Strachan T. Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. J Med Genet 1998;35:450-455.
-
(1998)
J Med Genet
, vol.35
, pp. 450-455
-
-
Evans, D.G.1
Trueman, L.2
Wallace, A.3
Collins, S.4
Strachan, T.5
-
17
-
-
0029811044
-
Identification of NF2 germ-line mutations and comparison with NF2 phenotypes
-
Kluwe L, Beyer S, Baser ME, et al. Identification of NF2 germ-line mutations and comparison with NF2 phenotypes. Hum Genet 1996;98:534-538.
-
(1996)
Hum Genet
, vol.98
, pp. 534-538
-
-
Kluwe, L.1
Beyer, S.2
Baser, M.E.3
-
18
-
-
33947268508
-
Ocular pathologic findings of neurofibromatosis type 2
-
McLaughlin ME, Pepin SM, MacCollin M, Choopong P, Lessell S. Ocular pathologic findings of neurofibromatosis type 2. Arch Ophthalmol 2007;125:389-394.
-
(2007)
Arch Ophthalmol
, vol.125
, pp. 389-394
-
-
McLaughlin, M.E.1
Pepin, S.M.2
MacCollin, M.3
Choopong, P.4
Lessell, S.5
-
19
-
-
0029432478
-
Ultrastructural change of the Müller cell in the culture of sensory retina
-
Song BJ, Ko MK, Choe JK. Ultrastructural change of the Müller cell in the culture of sensory retina. Korean J Ophthalmol 1995;9:84-88.
-
(1995)
Korean J Ophthalmol
, vol.9
, pp. 84-88
-
-
Song, B.J.1
Ko, M.K.2
Choe, J.K.3
-
20
-
-
0018587991
-
Congenital retino-pigment epithelial malformation, previously described as hamartomas
-
Laqua H, Wessing A. Congenital retino-pigment epithelial malformation, previously described as hamartomas. Mod Probl Ophthalmol 1979;20:101-106.
-
(1979)
Mod Probl Ophthalmol
, vol.20
, pp. 101-106
-
-
Laqua, H.1
Wessing, A.2
-
21
-
-
18844372102
-
Optical coherence tomography findings of combined hamartoma of the retina and retinal pigment epithelium in 11 patients
-
Shields CL, Mashayekhi A, Dai VV, Materin MA, Shields JA. Optical coherence tomography findings of combined hamartoma of the retina and retinal pigment epithelium in 11 patients. Arch Ophthalmol 2005;123:1746-1750.
-
(2005)
Arch Ophthalmol
, vol.123
, pp. 1746-1750
-
-
Shields, C.L.1
Mashayekhi, A.2
Dai, V.V.3
Materin, M.A.4
Shields, J.A.5
-
22
-
-
0022272631
-
Clinicopathologic results of vitreous surgery for epiretinal membranes in patients with combined retinal and retinal pigment epithelial hamartomas
-
MacDonald HR, Abrams GW, Burke JM, Neuwirth J. Clinicopathologic results of vitreous surgery for epiretinal membranes in patients with combined retinal and retinal pigment epithelial hamartomas. Am J Ophthalmol 1985;100:806-813.
-
(1985)
Am J Ophthalmol
, vol.100
, pp. 806-813
-
-
MacDonald, H.R.1
Abrams, G.W.2
Burke, J.M.3
Neuwirth, J.4
-
23
-
-
0028990899
-
Effects of Müller cell disruption on mouse photoreceptor cell development
-
Rich KA, Figueroa SL, Zhan Y, Blanks JC. Effects of Müller cell disruption on mouse photoreceptor cell development. Exp Eye Res 1995;61:235-248.
-
(1995)
Exp Eye Res
, vol.61
, pp. 235-248
-
-
Rich, K.A.1
Figueroa, S.L.2
Zhan, Y.3
Blanks, J.C.4
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