-
2
-
-
0000390337
-
Ueber familiares Vorkommen von "retinitis punctata albescens" (verbunden mit "dystrophia marginaliscristallinea cornea"): Glitzern des Glasköpers und anderen degenerativen Augenveränderungen
-
Bietti GB. Ueber familiares Vorkommen von "Retinitis punctata albescens" (verbunden mit "Dystrophia marginaliscristallinea cornea"): Glitzern des Glasköpers und anderen degenerativen Augenveränderungen. Klin Monatsbl Augenheilkd 1937;99:737-56.
-
(1937)
Klin Monatsbl Augenheilkd
, vol.99
, pp. 737-756
-
-
Bietti, G.B.1
-
3
-
-
32944468810
-
Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations
-
DOI 10.1167/iovs.05-0378
-
Lee KY, Koh AH, Aung T, et al. Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. Invest Ophth Vis Sci 2005;46:3812-16. (Pubitemid 44264691)
-
(2005)
Investigative Ophthalmology and Visual Science
, vol.46
, Issue.10
, pp. 3812-3816
-
-
Lee, K.Y.C.1
Koh, A.H.C.2
Aung, T.3
Yong, V.H.K.4
Yeung, K.5
Ang, C.-L.6
Vithana, E.N.7
-
4
-
-
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
-
5
-
-
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;118:569-82. (Pubitemid 24345618)
-
(1994)
American Journal of Ophthalmology
, vol.118
, Issue.5
, pp. 569-582
-
-
Kaiser-Kupfer, M.I.1
Chan, C.-C.2
Markello, T.C.3
Crawford, M.A.4
Caruso, R.C.5
Csaky, K.G.6
Guo, J.7
Gahl, W.A.8
-
6
-
-
0023230020
-
Prevalence and mode of inheritance of major genetic eye diseases in China
-
Hu DN. Prevalence and mode of inheritance of major genetic eye diseases in China. J Med Genet 1987;24:584-8.
-
(1987)
J Med Genet
, vol.24
, pp. 584-588
-
-
Hu, D.N.1
-
7
-
-
2942670444
-
Bietti's crystalline corneoretinal dystrophy: A cross-sectional study
-
DOI 10.1097/00006982-200406000-00013
-
Mataftsi A, Zografos L, Milla E, et al. Bietti's crystalline corneoretinal dystrophy: a cross-sectional study. Retina 2004;24:416-26. (Pubitemid 38780472)
-
(2004)
Retina
, vol.24
, Issue.3
, pp. 416-426
-
-
Mataftsi, A.1
Zografos, L.2
Milla, E.3
Secretan, M.4
Munier, F.L.5
-
8
-
-
18144381887
-
Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy
-
DOI 10.1016/j.ajo.2004.11.065
-
Wada Y, Itabashi T, Sato H, et al. Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy. Am J Hum Genet 2005;139:894-9. (Pubitemid 40614777)
-
(2005)
American Journal of Ophthalmology
, vol.139
, Issue.5
, pp. 894-899
-
-
Wada, Y.1
Itabashi, T.2
Sato, H.3
Kawamura, M.4
Tada, A.5
Tamai, M.6
-
9
-
-
26244466736
-
Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline cornearetinal dystrophy
-
Lin J, Nishiguchi M, Nakamura M, et al. Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline cornearetinal dystrophy. J Med Genet 2005;42:e38.
-
(2005)
J Med Genet
, vol.42
-
-
Lin, J.1
Nishiguchi, M.2
Nakamura, M.3
-
10
-
-
38449090105
-
Genotype-phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations
-
DOI 10.1167/iovs.07-0660
-
Lai TY, Ng TK, Tam PO, et al. Genotype phenotype analysis of Bietti's crystalline dystrophy patients with CYP4V2 mutations. Invest Ophth Vis Sci 2007;48:5212-20. (Pubitemid 351260934)
-
(2007)
Investigative Ophthalmology and Visual Science
, vol.48
, Issue.11
, pp. 5212-5220
-
-
Lai, T.Y.Y.1
Tsz, K.N.2
Tam, P.O.S.3
Yam, G.H.F.4
Ngai, J.W.S.5
Chan, W.-M.6
Liu, D.T.L.7
Lam, D.S.C.8
Chi, P.P.9
-
11
-
-
79955816344
-
An atypical form of Bietti crystalline dystrophy
-
Rossi S, Testa F, Li A, et al. An atypical form of Bietti crystalline dystrophy. Ophthalmic Genet 2011;32:118-21.
-
(2011)
Ophthalmic Genet
, vol.32
, pp. 118-121
-
-
Rossi, S.1
Testa, F.2
Li, A.3
-
12
-
-
79957914595
-
Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy
-
Xiao X, Mai G, Li S, et al. Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy. Biochem Biophys Res Commun 2011;409:181-6.
-
(2011)
Biochem Biophys Res Commun
, vol.409
, pp. 181-186
-
-
Xiao, X.1
Mai, G.2
Li, S.3
-
13
-
-
84863311657
-
Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: Report on a novel mutation
-
Haddad NM, Waked N, Bejjani R, et al. Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation. Mol Vis 2012;18:1182-8.
-
(2012)
Mol Vis
, vol.18
, pp. 1182-1188
-
-
Haddad, N.M.1
Waked, N.2
Bejjani, R.3
-
14
-
-
0034946012
-
The metabolism of fatty acids in human Bietti crystalline dystrophy
-
Lee J, Jiao X, Hejtmancik JF, et al. The metabolism of fatty acids in human Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci 2001;42:1707-14. (Pubitemid 32652343)
-
(2001)
Investigative Ophthalmology and Visual Science
, vol.42
, Issue.8
, pp. 1707-1714
-
-
Lee, J.1
Jiao, X.2
Fielding Hejtmancik, J.3
Kaiser-Kupfer, M.4
Gahl, W.A.5
Markello, T.C.6
Guo, J.7
Chader, G.J.8
-
15
-
-
77449129624
-
Alterations in serum fatty acid concentrations and desaturase activities in Bietti crystalline dystrophy unaffected by CYP4V2 genotypes
-
Lai TTY, Chu KO, Chan KP, et al. Alterations in serum fatty acid concentrations and desaturase activities in Bietti crystalline dystrophy unaffected by CYP4V2 genotypes. Invest Ophthalmol Vis Sci 2010;51:1092-7.
-
(2010)
Invest Ophthalmol Vis Sci
, vol.51
, pp. 1092-1097
-
-
Tty, L.1
Chu, K.O.2
Chan, K.P.3
-
16
-
-
0034891701
-
Rod and cone a-waves in three cases of Bietti crystalline chorioretinal dystrophy
-
DOI 10.1016/S0002-9394(01)00963-1, PII S0002939401009631
-
Usui T, Tanimoto N, Takagi M, et al. Rod and cone a-waves in three cases of Bietti crystalline chorioretinal dystrophy. Am J Ophthalmol 2001;132:395-402. (Pubitemid 32768610)
-
(2001)
American Journal of Ophthalmology
, vol.132
, Issue.3
, pp. 395-402
-
-
Usui, T.1
Tanimoto, N.2
Takagi, M.3
Hasegawa, S.4
Abe, H.5
-
17
-
-
77953062700
-
Spectral OCT analysis in Bietti crystalline dystrophy
-
Gaucher D, Saleh M, Sauer A, et al. Spectral OCT analysis in Bietti crystalline dystrophy. Eur J Ophthalmol 2010;20:612-14.
-
(2010)
Eur J Ophthalmol
, vol.20
, pp. 612-614
-
-
Gaucher, D.1
Saleh, M.2
Sauer, A.3
-
18
-
-
4344652909
-
Standard for clinical electroretinography (2004 update)
-
DOI 10.1023/B:DOOP.0000036793.44912.45
-
Marmor MF, Holder GE, Seeliger MW, et al. Standard for clinical electroretinography (2004 update). Doc Ophthalmol 2004;108:107-14. (Pubitemid 39140118)
-
(2004)
Documenta Ophthalmologica
, vol.108
, Issue.2
, pp. 107-114
-
-
Marmor, M.F.1
Holder, G.E.2
Seeliger, M.W.3
Yamamoto, S.4
-
20
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4: 1073-81.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
21
-
-
38749145596
-
Shifting paradigm of association studies: Value of rare single-nucleotide polymorphisms
-
DOI 10.1016/j.ajhg.2007.09.006, PII S0002929707000122
-
Gorlov IP, Gorlova OY, Sunyaev SR, et al. Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet 2008;82:100-12. (Pubitemid 351726083)
-
(2008)
American Journal of Human Genetics
, vol.82
, Issue.1
, pp. 100-112
-
-
Gorlov, I.P.1
Gorlova, O.Y.2
Sunyaev, S.R.3
Spitz, M.R.4
Amos, C.I.5
-
22
-
-
80053189298
-
Predicting the functional impact of protein mutations: Application to cancer genomics
-
Reva B, Antipin Y, Sander C. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res 2011;39:e118.
-
(2011)
Nucleic Acids Res
, vol.39
-
-
Reva, B.1
Antipin, Y.2
Sander, C.3
-
23
-
-
79953715693
-
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel
-
Gonzalez-Perez A, Lopez-Bigas N. Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am J Hum Genet 2011;88:440-9.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 440-449
-
-
Gonzalez-Perez, A.1
Lopez-Bigas, N.2
-
24
-
-
2342537802
-
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2
-
DOI 10.1086/383228
-
Li A, Jiao X, Munier FL, et al. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet 2004;74:817-26. (Pubitemid 38568957)
-
(2004)
American Journal of Human Genetics
, vol.74
, Issue.5
, pp. 817-826
-
-
Li, A.1
Jiao, X.2
Munier, F.L.3
Schorderet, D.F.4
Yao, W.5
Iwata, F.6
Hayakawa, M.7
Kanai, A.8
Chen, M.S.9
Lewis, R.A.10
Heckenlively, J.11
Weleber, R.G.12
Traboulsi, E.I.13
Zhang, Q.14
Xiao, X.15
Kaiser-Kupfer, M.16
Sergeev, Y.V.17
Hejtmancik, J.F.18
-
25
-
-
0033525169
-
A perfect message: RNA surveillance and nonsense-mediated decay
-
DOI 10.1016/S0092-8674(00)80542-5
-
Hentze MW, Kulozik AE. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 1999;96:307-10. (Pubitemid 29077583)
-
(1999)
Cell
, vol.96
, Issue.3
, pp. 307-310
-
-
Hentze, M.W.1
Kulozik, A.E.2
|