-
2
-
-
0031779944
-
Global cataract blindness: The unmet challenge
-
Arnold J. Global cataract blindness: the unmet challenge. Br J Ophthalmol. 1998;82:593-596.
-
(1998)
Br J Ophthalmol.
, vol.82
, pp. 593-596
-
-
Arnold, J.1
-
3
-
-
0028298094
-
Sibling correlations and segregation analysis of age-related maculopathy: The Beaver Dam eye study
-
Heiba IM, Elston RC, Klein BEK, Klein R. Sibling correlations and segregation analysis of age-related maculopathy: the Beaver Dam Eye Study. Genet Epidemiol. 1994;11:51-67.
-
(1994)
Genet Epidemiol.
, vol.11
, pp. 51-67
-
-
Heiba, I.M.1
Elston, R.C.2
Klein, B.E.K.3
Klein, R.4
-
5
-
-
0028364446
-
Autosomal dominant congenital cataract
-
Scott M, Heijtmancik J, Wozencraft L, Reuter L, Parks M, Kaiser-Kupfer M. Autosomal dominant congenital cataract. Ophthalmology. 1994;101:866-871.
-
(1994)
Ophthalmology
, vol.101
, pp. 866-871
-
-
Scott, M.1
Heijtmancik, J.2
Wozencraft, L.3
Reuter, L.4
Parks, M.5
Kaiser-Kupfer, M.6
-
6
-
-
0030914095
-
Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2
-
Litt M, Carrero VR, LaMorticella DM, et al. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet. 1997; 6:665-668.
-
(1997)
Hum Mol Genet.
, vol.6
, pp. 665-668
-
-
Litt, M.1
Carrero, V.R.2
LaMorticella, D.M.3
-
7
-
-
0032561116
-
Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the beta A3/A1-crystallin gene
-
Kannabiran C, Rogan P, Olmos L, et al. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the beta A3/A1-crystallin gene. Mol Vis. 1998;4:21-31.
-
(1998)
Mol Vis.
, vol.4
, pp. 21-31
-
-
Kannabiran, C.1
Rogan, P.2
Olmos, L.3
-
8
-
-
0031934121
-
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
-
Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum Mol Genet. 1998;7:471-474.
-
(1998)
Hum Mol Genet.
, vol.7
, pp. 471-474
-
-
Litt, M.1
Kramer, P.2
LaMorticella, D.M.3
Murphey, W.4
Lovrien, E.W.5
Weleber, R.G.6
-
9
-
-
0005735075
-
A hereditary hyperferritinemia-cataract syndrome: Two novel mutations in the L-ferritin iron-responsive element
-
Mumford A, Vulliamy T, Lindsay J, Watson A. A hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element. Blood. 1998;6:665-668.
-
(1998)
Blood
, vol.6
, pp. 665-668
-
-
Mumford, A.1
Vulliamy, T.2
Lindsay, J.3
Watson, A.4
-
10
-
-
0031959735
-
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q
-
Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet. 1998;62:526-532.
-
(1998)
Am J Hum Genet.
, vol.62
, pp. 526-532
-
-
Shiels, A.1
Mackay, D.2
Ionides, A.3
Berry, V.4
Moore, A.5
Bhattacharya, S.6
-
11
-
-
13044250483
-
Progressive juvenileonset punctate cataracts caused by mutation of the gammaD-crystallin gene
-
Stephan D, Gillanders E, Vanderveen D. et al. Progressive juvenileonset punctate cataracts caused by mutation of the gammaD-crystallin gene. Proc Natl Acad Sci USA. 1999;96:1008-1012.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 1008-1012
-
-
Stephan, D.1
Gillanders, E.2
Vanderveen, D.3
-
12
-
-
0033358423
-
The γ-crystallins and human cataract: A puzzle made clearer
-
Héon E. Priston M, Schorderet DF, et al. The γ-Crystallins and human cataract: A puzzle made clearer. Am J Hum Genet. 1999; 65:1261-1267.
-
(1999)
Am J Hum Genet.
, vol.65
, pp. 1261-1267
-
-
Héon, E.1
Priston, M.2
Schorderet, D.F.3
-
13
-
-
0000699953
-
A peculiar form of hereditary congenital cataract
-
Nettleship E, Ogilvie F. A peculiar form of hereditary congenital cataract. Trans Ophthalmol Soc UK. 1906;26:191.
-
(1906)
Trans Ophthalmol Soc UK
, vol.26
, pp. 191
-
-
Nettleship, E.1
Ogilvie, F.2
-
14
-
-
0002288531
-
Probable linkage between a congenital cataract locus and the Duffy blood group locus
-
Renwick J, Lawler S. Probable linkage between a congenital cataract locus and the Duffy blood group locus. Ann Hum Genet. 1963;27:67-84.
-
(1963)
Ann Hum Genet.
, vol.27
, pp. 67-84
-
-
Renwick, J.1
Lawler, S.2
-
15
-
-
0023131304
-
A locus of a human hereditary cataract is closely linked to the gamma-crystallin gene family
-
Lubsen N, Renwick J, Tsui L-C, Breitman M, Schoenmackers J. A locus of a human hereditary cataract is closely linked to the gamma-crystallin gene family. Proc Natl Acad Sci USA. 1987;84: 489-492.
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 489-492
-
-
Lubsen, N.1
Renwick, J.2
Tsui, L.-C.3
Breitman, M.4
Schoenmackers, J.5
-
16
-
-
0028181012
-
Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract
-
Brakenhoff R, Henskens H, van Rossum M, Lubsen N, Schoenmakers G. Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract. Hum Mol Genet. 1994; 3:279-283.
-
(1994)
Hum Mol Genet.
, vol.3
, pp. 279-283
-
-
Brakenhoff, R.1
Henskens, H.2
Van Rossum, M.3
Lubsen, N.4
Schoenmakers, G.5
-
17
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller S, Dykes D, Polesky H. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.1
Dykes, D.2
Polesky, H.3
-
18
-
-
0027942568
-
A comprehensive human linkage map with centimorgan density: Cooperative Human Linkage Center
-
Murray J, Buetow K, Weber J, it al. A comprehensive human linkage map with centimorgan density: Cooperative Human Linkage Center. Science. 1994;265:2049-2054.
-
(1994)
Science
, vol.265
, pp. 2049-2054
-
-
Murray, J.1
Buetow, K.2
Weber, J.3
-
19
-
-
0028231090
-
The 1993-94 Généthon human genetic linkage map
-
Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Généthon human genetic linkage map. Nat Genet. 1994;7:246-339.
-
(1994)
Nat Genet.
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
-
20
-
-
0032231949
-
Gene localization for aculeiform cataract, on chromosome 2q33-35
-
Héon E, Liu S, Billingsley G, it al. Gene localization for aculeiform cataract, on chromosome 2q33-35. Am J Hum Genet. 1998;63: 921-926.
-
(1998)
Am J Hum Genet.
, vol.63
, pp. 921-926
-
-
Héon, E.1
Liu, S.2
Billingsley, G.3
-
21
-
-
0021344005
-
Easy calculations of lod scores and genetic risk on small computers
-
Lathrop G, Lalouel J. Easy calculations of lod scores and genetic risk on small computers. Am J Hum Genet. 1984;36:460-465.
-
(1984)
Am J Hum Genet.
, vol.36
, pp. 460-465
-
-
Lathrop, G.1
Lalouel, J.2
-
22
-
-
0018919181
-
Philly mouse: A new model of hereditary cataract
-
Kador P, Fukui H, Fukushi S, Jernigan H, Kinoshita J. Philly mouse: A new model of hereditary cataract. Exp Eye Res. 1980;30:59-68.
-
(1980)
Exp Eye Res.
, vol.30
, pp. 59-68
-
-
Kador, P.1
Fukui, H.2
Fukushi, S.3
Jernigan, H.4
Kinoshita, J.5
-
23
-
-
0024605518
-
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)
-
Newton C, Graham A, Heptinsall I, Powell S, Summers C, Kalsheker N. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res. 1989;17:2503-2515.
-
(1989)
Nucleic Acids Res.
, vol.17
, pp. 2503-2515
-
-
Newton, C.1
Graham, A.2
Heptinsall, I.3
Powell, S.4
Summers, C.5
Kalsheker, N.6
-
24
-
-
0020678719
-
Short-range order of crystallin proteins accounts for eye lens transparency
-
Delaye M, Tardieu A. Short-range order of crystallin proteins accounts for eye lens transparency. Nature. 1983;302:415-417.
-
(1983)
Nature
, vol.302
, pp. 415-417
-
-
Delaye, M.1
Tardieu, A.2
-
25
-
-
0023917935
-
Lens crystallin: The evolution and expression of proteins for a highly specialized tissue
-
Wistow G, Piatigorsky J. Lens crystallin: the evolution and expression of proteins for a highly specialized tissue. Annu Rev Biochem. 1988;57:479-504.
-
(1988)
Annu Rev Biochem.
, vol.57
, pp. 479-504
-
-
Wistow, G.1
Piatigorsky, J.2
-
26
-
-
0031979070
-
The genetics of cataract: Our vision becomes clearer
-
Hejtmancik JF. The genetics of cataract: our vision becomes clearer (editorial). Am J Hum Genet. 1998;62:520-525.
-
(1998)
Am J Hum Genet.
, vol.62
, pp. 520-525
-
-
Hejtmancik, J.F.1
-
27
-
-
0000145042
-
The lens: Development, proteins, metabolism and cataract
-
Davson H, eds. London: Academic Press
-
Harding J, Crabe M. The lens: development, proteins, metabolism and cataract. In: Davson H, eds. The Eye. 3rd ed. London: Academic Press; 1984:207-492.
-
(1984)
The Eye. 3rd Ed.
, pp. 207-492
-
-
Harding, J.1
Crabe, M.2
-
28
-
-
0023067034
-
Gene expression and genetic engineering in the lens Friedwald lecture
-
Piatigorsky J. Gene expression and genetic engineering in the lens Friedwald lecture. Invest Ophthalmol Vis Sci. 1987;28:9-28.
-
(1987)
Invest Ophthalmol Vis Sci.
, vol.28
, pp. 9-28
-
-
Piatigorsky, J.1
-
29
-
-
0026815107
-
A superfamily in the mammalian eye lens: The beta/gamma-crystallins
-
Van Rens G, de Jong W, Bloemendal H. A superfamily in the mammalian eye lens: the beta/gamma-crystallins. Mol Biol Rep. 1992;16:1-10.
-
(1992)
Mol Biol Rep.
, vol.16
, pp. 1-10
-
-
Van Rens, G.1
De Jong, W.2
Bloemendal, H.3
-
30
-
-
0345655177
-
Assignment of a second human beta-crystallin gene (CRYB2) to 22q11.2-q12.2
-
Sparkes R, Hogg D, Gorin M, et al. Assignment of a second human beta-crystallin gene (CRYB2) to 22q11.2-q12.2 (Abstract). Cytogenet Cell Genet. 1987;46:696.
-
(1987)
Cytogenet Cell Genet.
, vol.46
, pp. 696
-
-
Sparkes, R.1
Hogg, D.2
Gorin, M.3
-
31
-
-
0025729958
-
Direct assignment of human beta B2 and beta B3 crystallin genes to 22q11.2-q12: Markers for neurofibromatosis 2
-
Hulsebos T, Bijlsman E, Geurts van Kessel A, Brakenhoff R, Westerveld A. Direct assignment of human beta B2 and beta B3 crystallin genes to 22q11.2-q12: markers for neurofibromatosis 2. Cytogenet Cell Genet. 1991;56:171-175.
-
(1991)
Cytogenet Cell Genet.
, vol.56
, pp. 171-175
-
-
Hulsebos, T.1
Bijlsman, E.2
Geurts Van Kessel, A.3
Brakenhoff, R.4
Westerveld, A.5
-
32
-
-
0022509074
-
Localization of a beta-crystallin gene, the Hu beta A3/A1 (gene symbol CRYB1) to the long arm of chromosome 17
-
Law M, Cai G-Y, Hartz J, et al. Localization of a beta-crystallin gene, the Hu beta A3/A1 (gene symbol CRYB1) to the long arm of chromosome 17. Cytogenet Cell Genet. 1986;42:202-207.
-
(1986)
Cytogenet Cell Genet.
, vol.42
, pp. 202-207
-
-
Law, M.1
Cai, G.-Y.2
Hartz, J.3
-
33
-
-
0022905358
-
Assignment of beta-crystallin gene to 17 cen-q23
-
Sparkes R, Mohandas T, Heinzman C, Gorin M, Zollman S, Horwitz J. Assignment of beta-crystallin gene to 17 cen-q23. Hum Genet. 1986;74:133-136.
-
(1986)
Hum Genet.
, vol.74
, pp. 133-136
-
-
Sparkes, R.1
Mohandas, T.2
Heinzman, C.3
Gorin, M.4
Zollman, S.5
Horwitz, J.6
-
34
-
-
0028979808
-
Identification of the human beta-A2 crystallin gene (CRYBA2): Localization of the gene on human chromosome 2 and of the homologous gene on mouse chromosome 1
-
Hulsebos TJ, Cerosaletti KM, Fournier RE, et al. Identification of the human beta-A2 crystallin gene (CRYBA2): localization of the gene on human chromosome 2 and of the homologous gene on mouse chromosome 1. Genomics. 1995;28:543-548.
-
(1995)
Genomics
, vol.28
, pp. 543-548
-
-
Hulsebos, T.J.1
Cerosaletti, K.M.2
Fournier, R.E.3
-
35
-
-
0024218965
-
The evolution of lenticular proteins: The beta- and gamma-crystallin super gene family
-
Lubsen N, Aarts H, Schoenmakers J. The evolution of lenticular proteins: the beta- and gamma-crystallin super gene family. Prog Biophys Mol Biol. 1988;51:47-76.
-
(1988)
Prog Biophys Mol Biol.
, vol.51
, pp. 47-76
-
-
Lubsen, N.1
Aarts, H.2
Schoenmakers, J.3
-
36
-
-
0030847791
-
The X-ray structure of a mutant eye lens beta B2-crystallin with truncated sequence extensions
-
Norledge B, Trinkl S, Jaenicke R, Slingsby C. The X-ray structure of a mutant eye lens beta B2-crystallin with truncated sequence extensions. Protein Sci. 1997;6:1612-1620.
-
(1997)
Protein Sci.
, vol.6
, pp. 1612-1620
-
-
Norledge, B.1
Trinkl, S.2
Jaenicke, R.3
Slingsby, C.4
-
37
-
-
0025186133
-
X-ray analysis of bB2-crystallin and evolution of oligomeric lens proteins
-
Bax B, Lapatto R, Nalini V, et al. X-ray analysis of bB2-crystallin and evolution of oligomeric lens proteins. Nature. 1990;347:776-780.
-
(1990)
Nature
, vol.347
, pp. 776-780
-
-
Bax, B.1
Lapatto, R.2
Nalini, V.3
-
38
-
-
0025295355
-
Interaction of an altered beta-crystallin with other proteins in the Philly mouse lens
-
Russell P, Chambers C. Interaction of an altered beta-crystallin with other proteins in the Philly mouse lens. Exp Eye Res. 1990; 50:683-687.
-
(1990)
Exp Eye Res.
, vol.50
, pp. 683-687
-
-
Russell, P.1
Chambers, C.2
-
39
-
-
0019982188
-
Deficiency of functional messenger RNA for a developmentally regulated b-crystallin polypeptide in a hereditary cataract
-
Carper D. Shinohara T, Piatigorsky J, Kinoshita J. Deficiency of functional messenger RNA for a developmentally regulated b-crystallin polypeptide in a hereditary cataract. Science. 1982;217: 463-464.
-
(1982)
Science
, vol.217
, pp. 463-464
-
-
Carper, D.1
Shinohara, T.2
Piatigorsky, J.3
Kinoshita, J.4
-
40
-
-
0027339843
-
H-NMR spectroscopy of bovine lens β-crystallin: The role of the βB2-crystallin C-terminal extension in aggregation
-
Cooper PG, Carver J, Truscott J. H-NMR spectroscopy of bovine lens β-crystallin: The role of the βB2-crystallin C-terminal extension in aggregation Eur J Biochem. 1993;213:321-328.
-
(1993)
Eur J Biochem.
, vol.213
, pp. 321-328
-
-
Cooper, P.G.1
Carver, J.2
Truscott, J.3
-
41
-
-
0343834900
-
Varieties of congenital cataracts
-
Assen: Royal Van Gorcum
-
Francois J. Varieties of congenital cataracts In: Congenital Cataracts. Assen: Royal Van Gorcum; 1963:164-165.
-
(1963)
Congenital Cataracts
, pp. 164-165
-
-
Francois, J.1
-
42
-
-
0030003927
-
The cooperation between two silencers creates an enhancer element that controls both the lens-preferred and the differentiation stage-specific expression of the rat betaB2-crystallin gene
-
Dirks R, Kraft H, Van Genesen S, et al. The cooperation between two silencers creates an enhancer element that controls both the lens-preferred and the differentiation stage-specific expression of the rat betaB2-crystallin gene. Eur J Biochem. 1996;239: 23-32.
-
(1996)
Eur J Biochem.
, vol.239
, pp. 23-32
-
-
Dirks, R.1
Kraft, H.2
Van Genesen, S.3
|