-
1
-
-
0019485220
-
The molecular structure and stability of the eye lens: X-ray analysis of gamma-crystallin II
-
Blundell T, Lindley P, Miller L, Moss D, Slingsby C, Tickle I, Turnell B, Wistow G (1981) The molecular structure and stability of the eye lens: X-ray analysis of gamma-crystallin II. Nature 289:771-777
-
(1981)
Nature
, vol.289
, pp. 771-777
-
-
Blundell, T.1
Lindley, P.2
Miller, L.3
Moss, D.4
Slingsby, C.5
Tickle, I.6
Turnell, B.7
Wistow, G.8
-
2
-
-
0003523915
-
-
Boehnke M, Lunetta K, Hauser E, Lange K, Uro J, Vandertoep J (1996) RHMAP: statistical package for multipoint radiation, 3.0 http:www.hgmp.mrc.ac.uk./Registered/Option/rhmap.html
-
(1996)
RHMAP: Statistical Package for Multipoint Radiation, 3.0
-
-
Boehnke, M.1
Lunetta, K.2
Hauser, E.3
Lange, K.4
Uro, J.5
Vandertoep, J.6
-
3
-
-
0028181012
-
Activation of the gammaE-crystallin pseudogene in the human hereditary Coppock-like cataract
-
Brakenhoff RH, Henskens HAM, Rossum MWPC van, Lubsen NH, Schoenmakers JGG (1994) Activation of the gammaE-crystallin pseudogene in the human hereditary Coppock-like cataract. Hum Mol Genet 3:279-283
-
(1994)
Hum Mol Genet
, vol.3
, pp. 279-283
-
-
Brakenhoff, R.H.1
Henskens, H.A.M.2
Van Rossum, M.W.P.C.3
Lubsen, N.H.4
Schoenmakers, J.G.G.5
-
4
-
-
0028365909
-
Integrated human genome-wide maps constructed using the CEPH reference panel
-
Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Heddema T, Duyk GM, Sheffield VC, Wang Z, Murray JC (1994) Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet 6:391-393
-
(1994)
Nat Genet
, vol.6
, pp. 391-393
-
-
Buetow, K.H.1
Weber, J.L.2
Ludwigsen, S.3
Scherpbier-Heddema, T.4
Duyk, G.M.5
Sheffield, V.C.6
Wang, Z.7
Murray, J.C.8
-
5
-
-
0025744705
-
Mechanisms of insertional mutagenesis in human genes causing genetic disease
-
Cooper DN, Krawczak M (1991) Mechanisms of insertional mutagenesis in human genes causing genetic disease. Hum Genet 87:409-415
-
(1991)
Hum Genet
, vol.87
, pp. 409-415
-
-
Cooper, D.N.1
Krawczak, M.2
-
8
-
-
0025292147
-
Magnitude and causes of blindness in the developing world
-
Foster A, Johnson GJ (1990) Magnitude and causes of blindness in the developing world. Int Ophthalmol 14:135-140
-
(1990)
Int Ophthalmol
, vol.14
, pp. 135-140
-
-
Foster, A.1
Johnson, G.J.2
-
9
-
-
0020064030
-
Genetics of cataract
-
Francois J (1982) Genetics of cataract. Ophthalmologica 184:61-71
-
(1982)
Ophthalmologica
, vol.184
, pp. 61-71
-
-
Francois, J.1
-
10
-
-
0028231090
-
The 1993-1994 Genethon human genetic linkage map
-
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994) The 1993-1994 Genethon human genetic linkage map. Nat Genet 7:246-339
-
(1994)
Nat Genet
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
Dib, C.4
Fizames, C.5
Millasseau, P.6
Marc, S.7
Bernardi, G.8
Lathrop, M.9
Weissenbach, J.10
-
11
-
-
0031979070
-
The genetics of cataract: Our vision becomes clearer
-
Hejtmancik JF (1998) The genetics of cataract: our vision becomes clearer. Am J Hum Genet 62:520-525
-
(1998)
Am J Hum Genet
, vol.62
, pp. 520-525
-
-
Hejtmancik, J.F.1
-
12
-
-
0037862721
-
Molecular biology and inherited disorders of the eye lens
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw Hill, New York
-
Hejtmancik JF, Kaiser-Kupfer MI, Piatigorsky J (1995) Molecular biology and inherited disorders of the eye lens. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, vol 7. McGraw Hill, New York, pp 4325-4349
-
(1995)
The Metabolic Basis of Inherited Disease
, vol.7
, pp. 4325-4349
-
-
Hejtmancik, J.F.1
Kaiser-Kupfer, M.I.2
Piatigorsky, J.3
-
13
-
-
0033358423
-
The gamma-crystallins and human cataracts: A puzzle made clearer
-
Heon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL (1999) The gamma-crystallins and human cataracts: a puzzle made clearer. Am J Hum Genet 65: 1261-1267
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1261-1267
-
-
Heon, E.1
Priston, M.2
Schorderet, D.F.3
Billingsley, G.D.4
Girard, P.O.5
Lubsen, N.6
Munier, F.L.7
-
14
-
-
0032792185
-
Clinical and genetic heterogeneity in autosomal dominant cataract
-
Ionides A, Francis P, Berry V, Mackay D, Bhattacharya S, Shiels A, Moore A (1999) Clinical and genetic heterogeneity in autosomal dominant cataract. Br J Ophthalmol 83:802-808
-
(1999)
Br J Ophthalmol
, vol.83
, pp. 802-808
-
-
Ionides, A.1
Francis, P.2
Berry, V.3
Mackay, D.4
Bhattacharya, S.5
Shiels, A.6
Moore, A.7
-
15
-
-
0000648047
-
Cataract due to crystal deposits of 37R→S mutated gammaD-crystallin
-
Kmoch S, Asfaw B, Bezouska K, Brynda J, Sedlacek J, Filipec M, Elleder M (1999) Cataract due to crystal deposits of 37R→S mutated gammaD-crystallin. Am J Hum Genet 65:A305
-
(1999)
Am J Hum Genet
, vol.65
-
-
Kmoch, S.1
Asfaw, B.2
Bezouska, K.3
Brynda, J.4
Sedlacek, J.5
Filipec, M.6
Elleder, M.7
-
16
-
-
0023131304
-
A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family
-
Lubsen NH, Renwick JH, Tsui LC, Breitman ML, Schoenmakers JG (1987) A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family. Proc Natl Acad Sci USA 84:489-492
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 489-492
-
-
Lubsen, N.H.1
Renwick, J.H.2
Tsui, L.C.3
Breitman, M.L.4
Schoenmakers, J.G.5
-
17
-
-
0026570323
-
Autosomal dominant congenital cataract: Linkage relations; clinical and genetic heterogeneity
-
Lund AM, Eiberg H, Rosenberg T, Warburg M (1992) Autosomal dominant congenital cataract: linkage relations; clinical and genetic heterogeneity. Clin Genet 41:65-69
-
(1992)
Clin Genet
, vol.41
, pp. 65-69
-
-
Lund, A.M.1
Eiberg, H.2
Rosenberg, T.3
Warburg, M.4
-
18
-
-
0001899127
-
Inherited cataracts
-
Merin S (ed) Dekker, New York
-
Merin S (1991) Inherited cataracts. In: Merin S (ed) Inherited eye diseases. Dekker, New York, pp 86-120
-
(1991)
Inherited Eye Diseases
, pp. 86-120
-
-
Merin, S.1
-
19
-
-
0026774858
-
A comprehensive genetic linkage map of the human genome
-
NIH/CEPH Collaborative Mapping Group (1992) A comprehensive genetic linkage map of the human genome. Science 258: 67-86
-
(1992)
Science
, vol.258
, pp. 67-86
-
-
-
20
-
-
0030789317
-
Mutational analysis of hydrophobic domain interactions in gamma B-crystallin from bovine eye lens
-
Palme S, Slingsby C, Jaenicke R (1997) Mutational analysis of hydrophobic domain interactions in gamma B-crystallin from bovine eye lens. Protein Sci 6:1529-1536
-
(1997)
Protein Sci
, vol.6
, pp. 1529-1536
-
-
Palme, S.1
Slingsby, C.2
Jaenicke, R.3
-
21
-
-
0031006549
-
A1M1, a novel non-lens member of the beta-gamma-crystallin superfamily associated with the control of tumorigenicity in human malignant melanoma
-
Ray ME, Wistow G, Su YA, Meltzer PS, Trent JM (1997) A1M1, a novel non-lens member of the beta-gamma-crystallin superfamily associated with the control of tumorigenicity in human malignant melanoma. Proc Natl Acad Sci USA 94:3229-3234
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 3229-3234
-
-
Ray, M.E.1
Wistow, G.2
Su, Y.A.3
Meltzer, P.S.4
Trent, J.M.5
-
22
-
-
0023520914
-
Congenital ocular blindness in children, 1945 to 1984
-
Robinson GC, Jan JE, Kinnis C (1987) Congenital ocular blindness in children, 1945 to 1984. Am J Dis Child 141:1321-1324
-
(1987)
Am J Dis Child
, vol.141
, pp. 1321-1324
-
-
Robinson, G.C.1
Jan, J.E.2
Kinnis, C.3
-
23
-
-
9244251074
-
Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35
-
Rogaev EI, Rogaeva EA, Korovaitseva GI, Farrar LA, Petrin AN, Keryanov SA, Turaeva S, Chumakov I, St.George-Hyslop P, Ginter EK (1997) Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35. Hum Mol Genet 5:699-703
-
(1997)
Hum Mol Genet
, vol.5
, pp. 699-703
-
-
Rogaev, E.I.1
Rogaeva, E.A.2
Korovaitseva, G.I.3
Farrar, L.A.4
Petrin, A.N.5
Keryanov, S.A.6
Turaeva, S.7
Chumakov, I.8
St.George-Hyslop, P.9
Ginter, E.K.10
-
25
-
-
0028364446
-
Autosomal dominant congenital cataract: Interocular phenotypic heterogeneity
-
Scott MH, Hejtmancik JF, Wozencraft LA, Reuter LM, Parks MM, Kaiser-Kupfer MI (1994) Autosomal dominant congenital cataract: interocular phenotypic heterogeneity. Ophthalmology 101:866-871
-
(1994)
Ophthalmology
, vol.101
, pp. 866-871
-
-
Scott, M.H.1
Hejtmancik, J.F.2
Wozencraft, L.A.3
Reuter, L.M.4
Parks, M.M.5
Kaiser-Kupfer, M.I.6
-
26
-
-
0343091492
-
A method for determining domain binding sites in proteins with swapped domains: Implications for betaA3-and betaB2-crystallins
-
Marshak DR (ed) Academic Press, New York
-
Sergeev YV, Hejtmancik JF (1997) A method for determining domain binding sites in proteins with swapped domains: implications for betaA3-and betaB2-crystallins. In: Marshak DR (ed) Techniques in protein chemistry, vol 8. Academic Press, New York, pp 817-826
-
(1997)
Techniques in Protein Chemistry
, vol.8
, pp. 817-826
-
-
Sergeev, Y.V.1
Hejtmancik, J.F.2
-
27
-
-
0032789443
-
Structure of the crystallins
-
Slingsby C, Clout NJ (1999) Structure of the crystallins. Eye 13:395-402
-
(1999)
Eye
, vol.13
, pp. 395-402
-
-
Slingsby, C.1
Clout, N.J.2
-
28
-
-
0027058291
-
Localization of two genes for Usher syndrome type I to chromosome 11
-
Smith RJH, Lee EC, Kimberling WJ, Daiger SP, Pelias MZ, Keats BJB, Jay M, Bird A, Reardon W, Guest M, Ayyagari R, Hejtmancik JF (1992) Localization of two genes for Usher syndrome type I to chromosome 11. Genomics 14:995-1002
-
(1992)
Genomics
, vol.14
, pp. 995-1002
-
-
Smith, R.J.H.1
Lee, E.C.2
Kimberling, W.J.3
Daiger, S.P.4
Pelias, M.Z.5
Keats, B.J.B.6
Jay, M.7
Bird, A.8
Reardon, W.9
Guest, M.10
Ayyagari, R.11
Hejtmancik, J.F.12
-
29
-
-
13044250483
-
Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene
-
Stephan DA, Gillanders E, Vanderveen D, Freas-Lutz D, Wistow G, Baxevanis AD, Robbins CM, VanAuken A, Quesenberry MI, Bailey-Wilson J, Juo SH, Trent JM, Smith L, Brownstein MJ (1999) Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. Proc Natl Acad Sci USA 96:1008-1012
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 1008-1012
-
-
Stephan, D.A.1
Gillanders, E.2
Vanderveen, D.3
Freas-Lutz, D.4
Wistow, G.5
Baxevanis, A.D.6
Robbins, C.M.7
VanAuken, A.8
Quesenberry, M.I.9
Bailey-Wilson, J.10
Juo, S.H.11
Trent, J.M.12
Smith, L.13
Brownstein, M.J.14
-
30
-
-
0025117557
-
Evolution of a protein superfamily: Relationships between vertebrate lens crystallins and microorganism dormancy proteins
-
Wistow G (1990) Evolution of a protein superfamily: relationships between vertebrate lens crystallins and microorganism dormancy proteins. J Mol Evol 30:140-145
-
(1990)
J Mol Evol
, vol.30
, pp. 140-145
-
-
Wistow, G.1
|