-
4
-
-
77951632054
-
Weitere Ergebnisse der Spaltlampenmikroskopie des vordern Bulbusabschnittes
-
Vogt A. Weitere Ergebnisse der Spaltlampenmikroskopie des vordern Bulbusabschnittes. Arch Ophthalmol. 1921:63-113.
-
(1921)
Arch Ophthalmol
, pp. 63-113
-
-
Vogt, A.1
-
6
-
-
33644815534
-
Fuchs corneal dystrophy: Aberrant collagen distribution in an L450W mutant of the COL8A2 gene
-
Gottsch JD, Zhang C, Sundin OH, Bell WR, Stark WJ, Green WR. Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene. Invest Ophthalmol Vis Sci. 2005;46:4504-4511.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 4504-4511
-
-
Gottsch, J.D.1
Zhang, C.2
Sundin, O.H.3
Bell, W.R.4
Stark, W.J.5
Green, W.R.6
-
7
-
-
22144445323
-
Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of Fuchs corneal dystrophy
-
Gottsch JD, Sundin OH, Liu SH, et al. Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci. 2005;46:1934-1939.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 1934-1939
-
-
Gottsch, J.D.1
Sundin, O.H.2
Liu, S.H.3
-
8
-
-
33644843021
-
Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13
-
Sundin OH, Jun AS, Broman KW, et al. Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13. Invest Ophthalmol Vis Sci. 2006;47:140-145.
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 140-145
-
-
Sundin, O.H.1
Jun, A.S.2
Broman, K.W.3
-
9
-
-
33749148802
-
A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32
-
Sundin OH, Broman KW, Chang HH, Vito EC, Stark WJ, Gottsch JD. A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32. Invest Ophthalmol Vis Sci. 2006;47:3919-3926.
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 3919-3926
-
-
Sundin, O.H.1
Broman, K.W.2
Chang, H.H.3
Vito, E.C.4
Stark, W.J.5
Gottsch, J.D.6
-
10
-
-
73149085311
-
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p
-
Riazuddin SA, Zaghloul NA, Al-Saif A, et al. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. Am J Hum Genet. 2010;86:45-53.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 45-53
-
-
Riazuddin, S.A.1
Zaghloul, N.A.2
Al-Saif, A.3
-
11
-
-
39749109494
-
SLC4A11 mutations in Fuchs endothelial corneal dystrophy
-
Vithana EN, Morgan PE, Ramprasad V, et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet. 2008;17: 656-666.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 656-666
-
-
Vithana, E.N.1
Morgan, P.E.2
Ramprasad, V.3
-
12
-
-
78049435712
-
Missense mutations in the sodium borate co-transporter SLC4A11 cause late onset Fuchs corneal dystrophy
-
Riazuddin SA, Vithana EN, Seet LF, et al. Missense mutations in the sodium borate co-transporter SLC4A11 cause late onset Fuchs corneal dystrophy. Hum Mutat. 2010;31:1261-1268.
-
(2010)
Hum Mutat
, vol.31
, pp. 1261-1268
-
-
Riazuddin, S.A.1
Vithana, E.N.2
Seet, L.F.3
-
13
-
-
0030906128
-
Impairment of T cell development in deltaEF1 mutant mice
-
Higashi Y, Moribe H, Takagi T, et al. Impairment of T cell development in deltaEF1 mutant mice. J Exp Med. 1997;185:1467-1479.
-
(1997)
J Exp Med
, vol.185
, pp. 1467-1479
-
-
Higashi, Y.1
Moribe, H.2
Takagi, T.3
-
14
-
-
0032932828
-
Identification of the novel player deltaEF1 in estrogen transcriptional cascades
-
Chamberlain EM, Sanders MM. Identification of the novel player deltaEF1 in estrogen transcriptional cascades. Mol Cell Biol. 1999; 19:3600-3606.
-
(1999)
Mol Cell Biol
, vol.19
, pp. 3600-3606
-
-
Chamberlain, E.M.1
Sanders, M.M.2
-
15
-
-
66849104147
-
The class I bHLH factors E2-2A and E2-2B regulate EMT
-
Sobrado VR, Moreno-Bueno G, Cubillo E, et al. The class I bHLH factors E2-2A and E2-2B regulate EMT. J Cell Sci. 2009;122:1014-1024.
-
(2009)
J Cell Sci
, vol.122
, pp. 1014-1024
-
-
Sobrado, V.R.1
Moreno-Bueno, G.2
Cubillo, E.3
-
16
-
-
0024378079
-
Interactions between heterologous helix-loop-helix proteins generate complexes that bind specifically to a common DNA sequence
-
Murre C, McCaw PS, Vaessin H, et al. Interactions between heterologous helix-loop-helix proteins generate complexes that bind specifically to a common DNA sequence. Cell. 1989;58:537-544.
-
(1989)
Cell
, vol.58
, pp. 537-544
-
-
Murre, C.1
McCaw, P.S.2
Vaessin, H.3
-
17
-
-
0027141207
-
HLH proteins, fly neurogenesis, and vertebrate myogenesis
-
Jan YN, Jan LY. HLH proteins, fly neurogenesis, and vertebrate myogenesis. Cell. 1993;75:827-830.
-
(1993)
Cell
, vol.75
, pp. 827-830
-
-
Jan, Y.N.1
Jan, L.Y.2
-
18
-
-
0029896451
-
B-lymphocyte development is regulated by the combined dosage of three basic helix-loophelix genes, E2A, E2-2, and HEB
-
Zhuang Y, Cheng P, Weintraub H. B-lymphocyte development is regulated by the combined dosage of three basic helix-loophelix genes, E2A, E2-2, and HEB. Mol Cell Biol. 1996;16:2898-2905.
-
(1996)
Mol Cell Biol
, vol.16
, pp. 2898-2905
-
-
Zhuang, Y.1
Cheng, P.2
Weintraub, H.3
-
19
-
-
77956521660
-
E2-2 protein and Fuchs's corneal dystrophy
-
Baratz KH, Tosakulwong N, Ryu E, et al. E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med. 2010;363:1016-1024.
-
(2010)
N Engl J Med
, vol.363
, pp. 1016-1024
-
-
Baratz, K.H.1
Tosakulwong, N.2
Ryu, E.3
-
20
-
-
34548292504
-
PLINK: A tool set for whole-genome association and population-based linkage analyses
-
Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559-575.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
-
23
-
-
34247560106
-
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction
-
Amiel J, Rio M, de Pontual L, et al. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet. 2007;80: 988-993.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 988-993
-
-
Amiel, J.1
Rio, M.2
de Pontual, L.3
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