-
1
-
-
0000390337
-
Ueber familiares Vorkommen von "Retinitis punctata albescens" (verbunden mit "Dystrophia marginaliscristallinea cornea"): Glitzern des Glaskörpers und anderen degenerativen Augenveränderungen.
-
Bietti GB. Ueber familiares Vorkommen von "Retinitis punctata albescens" (verbunden mit "Dystrophia marginaliscristallinea cornea"): Glitzern des Glaskörpers und anderen degenerativen Augenveränderungen. Klin Monatsbl Augenheilkd. 1937;99:737-756.
-
(1937)
Klin Monatsbl Augenheilkd
, vol.99
, pp. 737-756
-
-
Bietti, G.B.1
-
2
-
-
0014236827
-
Bietti's tapetoretinal degeneration with marginal corneal dystrophy
-
Bagolini B, Ioli-Spada G. Bietti's tapetoretinal degeneration with marginal corneal dystrophy. Am J Ophthalmol. 1968;65:53-60.
-
(1968)
Am J Ophthalmol
, vol.65
, pp. 53-60
-
-
Bagolini, B.1
Ioli-Spada, G.2
-
3
-
-
0030274716
-
Electroretinographic campimetry in a patient with crystalline retinopathy
-
Kretschmann U, Usui T, Ruether K, Zrenner E. Electroretinographic campimetry in a patient with crystalline retinopathy. Ger J Ophthalmol. 1996;5:399-403.
-
(1996)
Ger J Ophthalmol
, vol.5
, pp. 399-403
-
-
Kretschmann, U.1
Usui, T.2
Ruether, K.3
Zrenner, E.4
-
4
-
-
0028032359
-
Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy
-
Kaiser-Kupfer MI, Chan CC, Markello TC, et al. Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy. Am J Ophthalmol. 1994;118:569-582.
-
(1994)
Am J Ophthalmol
, vol.118
, pp. 569-582
-
-
Kaiser-Kupfer, M.I.1
Chan, C.C.2
Markello, T.C.3
-
5
-
-
0020641680
-
Ophthalmic genetics in China
-
Hu DN. Ophthalmic genetics in China. Ophthalmic Paediatr Genet. 1983;2:39-45.
-
(1983)
Ophthalmic Paediatr Genet
, vol.2
, pp. 39-45
-
-
Hu, D.N.1
-
6
-
-
26244466736
-
Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy
-
Lin J, Nishiguchi KM, Nakamura N, et al. Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. J Med Genet. 2005;42:e38.
-
(2005)
J Med Genet
, vol.42
-
-
Lin, J.1
Nishiguchi, K.M.2
Nakamura, N.3
-
7
-
-
0033987463
-
Bietti crystalline retinopathy affecting all 3 male siblings in a family
-
Chan WM, Pang CP, Leung AT, et al. Bietti crystalline retinopathy affecting all 3 male siblings in a family. Arch Ophthalmol. 2000;118:129-131.
-
(2000)
Arch Ophthalmol
, vol.118
, pp. 129-131
-
-
Chan, W.M.1
Pang, C.P.2
Leung, A.T.3
-
8
-
-
0033764924
-
Genetic linkage of Bietti crystalline corneoretinal dystrophy to chromosome 4q35
-
Jiao X, Munier FL, Iwata F, et al. Genetic linkage of Bietti crystalline corneoretinal dystrophy to chromosome 4q35. Am J Hum Genet. 2000;67:1309-1313.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1309-1313
-
-
Jiao, X.1
Munier, F.L.2
Iwata, F.3
-
9
-
-
2342537802
-
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2
-
Li A, Jiao X, Munier FL, Schorderet DF, et al. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet. 2004;74:817-826.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 817-826
-
-
Li, A.1
Jiao, X.2
Munier, F.L.3
Schorderet, D.F.4
-
10
-
-
0034946012
-
The metabolism of fatty acids in human Bietti crystalline dystrophy
-
Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, et al. The metabolism of fatty acids in human Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci. 2001;42:1707-1714.
-
(2001)
Invest Ophthalmol Vis Sci
, vol.42
, pp. 1707-1714
-
-
Lee, J.1
Jiao, X.2
Hejtmancik, J.F.3
Kaiser-Kupfer, M.4
-
11
-
-
18144381887
-
Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy
-
Wada Y, Itabash T, Sato H, et al. Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy. Am J Ophthalmol. 2005;139:894-899.
-
(2005)
Am J Ophthalmol
, vol.139
, pp. 894-899
-
-
Wada, Y.1
Itabash, T.2
Sato, H.3
-
12
-
-
32944468810
-
Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations
-
Lee KY, Koh AH, Aung T, et al. Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. Invest Ophthalmol Vis Sci. 2005;46:3812-3816.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 3812-3816
-
-
Lee, K.Y.1
Koh, A.H.2
Aung, T.3
-
13
-
-
26244436316
-
Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy
-
Shan M, Dong B, Zhao X, et al. Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. Mol Vision. 2005;11:738-743.
-
(2005)
Mol Vision
, vol.11
, pp. 738-743
-
-
Shan, M.1
Dong, B.2
Zhao, X.3
-
14
-
-
24744446194
-
CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy
-
Gekka T, Hayashi T, Takeuchi T, Goto-Omoto S, Kitahara K. CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy. Ophthalmic Res. 2005;37:262-269.
-
(2005)
Ophthalmic Res
, vol.37
, pp. 262-269
-
-
Gekka, T.1
Hayashi, T.2
Takeuchi, T.3
Goto-Omoto, S.4
Kitahara, K.5
-
15
-
-
33751550156
-
ISCEV standard for clinical electrooculography (EOG)
-
Brown M, Marmor MF, Vaegan, Zrenner E, Brigell M, Bach M. ISCEV standard for clinical electrooculography (EOG). Doc Ophthalmol. 2006;113:205-212.
-
(2006)
Doc Ophthalmol
, vol.113
, pp. 205-212
-
-
Brown, M.1
Marmor, M.F.2
Vaegan3
Zrenner, E.4
Brigell, M.5
Bach, M.6
-
17
-
-
0037345620
-
Guidelines for basic multifocal electroretinography (mfERG)
-
Marmor MF, Hood DC, Keating D, Kondo M, Seeliger MW, Miyake Y. Guidelines for basic multifocal electroretinography (mfERG). Doc Ophthalmol. 2003;106:105-115.
-
(2003)
Doc Ophthalmol
, vol.106
, pp. 105-115
-
-
Marmor, M.F.1
Hood, D.C.2
Keating, D.3
Kondo, M.4
Seeliger, M.W.5
Miyake, Y.6
-
18
-
-
33749324466
-
Clinical and molecular findings in three Japanese patients with crystalline retinopathy
-
Jin ZB, Ito S, Saito Y, Inoue Y, Yanagi Y, Nao-i N. Clinical and molecular findings in three Japanese patients with crystalline retinopathy. Jpn J Ophthalmol. 2006;50:426-431.
-
(2006)
Jpn J Ophthalmol
, vol.50
, pp. 426-431
-
-
Jin, Z.B.1
Ito, S.2
Saito, Y.3
Inoue, Y.4
Yanagi, Y.5
Nao-i, N.6
-
20
-
-
0024510726
-
Bietti's crystalline dystrophy: A clinicopathologic correlative study
-
Wilson DJ, Weleber RG, Klein ML, Welch RB, Green WR. Bietti's crystalline dystrophy: a clinicopathologic correlative study. Arch Ophthalmol. 1989;107:213-221.
-
(1989)
Arch Ophthalmol
, vol.107
, pp. 213-221
-
-
Wilson, D.J.1
Weleber, R.G.2
Klein, M.L.3
Welch, R.B.4
Green, W.R.5
-
21
-
-
0034891701
-
Rod and cone a-waves in three cases of Bietti crystalline chorioretinal dystrophy
-
Usui T, Tanimoto N, Takagi M, Hasegawa S, Abe H. Rod and cone a-waves in three cases of Bietti crystalline chorioretinal dystrophy. Am J Ophthalmol. 2001;132:395-402.
-
(2001)
Am J Ophthalmol
, vol.132
, pp. 395-402
-
-
Usui, T.1
Tanimoto, N.2
Takagi, M.3
Hasegawa, S.4
Abe, H.5
-
22
-
-
1942477632
-
Clinical and function findings in crystalline retinopathy
-
Yanagi Y, Tamaki Y, Takahashi H, et al. Clinical and function findings in crystalline retinopathy. Retina. 2004;24:267-274.
-
(2004)
Retina
, vol.24
, pp. 267-274
-
-
Yanagi, Y.1
Tamaki, Y.2
Takahashi, H.3
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