-
1
-
-
0001886761
-
Blindness and partial sight in England and Wales: April 1990-March 1991
-
Evans J, Rooney C, Ashwood F, et al. Blindness and partial sight in England and Wales: April 1990-March 1991. Health Trends 1996;28:5-12.
-
(1996)
Health Trends
, vol.28
, pp. 5-12
-
-
Evans, J.1
Rooney, C.2
Ashwood, F.3
-
3
-
-
2442758182
-
Treasury of human inheritance. Part 4. Section XIIIa. Congenital cataract
-
Harman N. Treasury of human inheritance. Part 4. Section XIIIa. Congenital cataract. Eugenics Library Memoirs XI 1910.
-
(1910)
Eugenics Library Memoirs
, vol.11
-
-
Harman, N.1
-
8
-
-
0028231090
-
The 1993-1994 Genethon human linkage map
-
Gyapay G, Morisette J, Vignal A, et al. The 1993-1994 Genethon human linkage map. Nat Genet 1994;7:246-339.
-
(1994)
Nat Genet
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morisette, J.2
Vignal, A.3
-
9
-
-
0030978852
-
Autosomal dominant congenital cataract linked to chromosome 13
-
Mackay D, Ionides A, Berry V, et al. Autosomal dominant congenital cataract linked to chromosome 13. Am J Hum Genet 1997;60:1474-8.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1474-1478
-
-
Mackay, D.1
Ionides, A.2
Berry, V.3
-
10
-
-
0021342011
-
Congenital anterior polar cataract: A review of 63 cases
-
Jaafar M, Robb R. Congenital anterior polar cataract: a review of 63 cases. Ophthalmology 1984;91:249-52.
-
(1984)
Ophthalmology
, vol.91
, pp. 249-252
-
-
Jaafar, M.1
Robb, R.2
-
11
-
-
0026671929
-
Anterior polar congenital cataract and corneal astigmatism
-
Bouzas A. Anterior polar congenital cataract and corneal astigmatism. J Paediatr Ophthalmol Strabismus 1992;29: 210-12.
-
(1992)
J Paediatr Ophthalmol Strabismus
, vol.29
, pp. 210-212
-
-
Bouzas, A.1
-
12
-
-
0031747433
-
Anterior polar cataract: Clinical spectrum and genetic linkage in a single family
-
Ionides A, Berry V, Mackay D, et al. Anterior polar cataract: clinical spectrum and genetic linkage in a single family. Eye 1998;12:224-6.
-
(1998)
Eye
, vol.12
, pp. 224-226
-
-
Ionides, A.1
Berry, V.2
Mackay, D.3
-
13
-
-
0030066487
-
A locus for autosomal dominant anterior polar cataract on chromosome 17p
-
Berry V, Ionides A, Moore A, et al. A locus for autosomal dominant anterior polar cataract on chromosome 17p. Mol Genet 1996;5:415-19.
-
(1996)
Mol Genet
, vol.5
, pp. 415-419
-
-
Berry, V.1
Ionides, A.2
Moore, A.3
-
14
-
-
0031021393
-
A locus for autosomal dominant posterior polar cataract on chromosome 1p
-
Ionides A, Berry V, Mackay D, et al. A locus for autosomal dominant posterior polar cataract on chromosome 1p, Hum Mol Genet 1997;6:47-51.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 47-51
-
-
Ionides, A.1
Berry, V.2
Mackay, D.3
-
15
-
-
0242663762
-
A pedigree of Doyne's discoid cataract
-
Smith P. A pedigree of Doyne's discoid cataract. Trans Ophthalmol Soc UK 1910;30:37-42.
-
(1910)
Trans Ophthalmol Soc UK
, vol.30
, pp. 37-42
-
-
Smith, P.1
-
16
-
-
0242495394
-
Ten pedigrees of congenital and infantile cataract; lamellar, coralliform, discoid and posterior polar with microphthalmia
-
Harman N. Ten pedigrees of congenital and infantile cataract; lamellar, coralliform, discoid and posterior polar with microphthalmia. Trans Ophthalmol Soc UK 1910;30: 251-74.
-
(1910)
Trans Ophthalmol Soc UK
, vol.30
, pp. 251-274
-
-
Harman, N.1
-
17
-
-
0023131304
-
A locus for human hereditary cataract is closely linked to the gamma-crystallin gene family
-
Lubsen N, Renwick J, Tsui L-C, et al. A locus for human hereditary cataract is closely linked to the gamma-crystallin gene family. Proc Natl Acad Sci USA 1987;84:489-92.
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 489-492
-
-
Lubsen, N.1
Renwick, J.2
Tsui, L.-C.3
-
18
-
-
1642639284
-
On heredity in the forms of cataract
-
Nettleship E. On heredity in the forms of cataract. The Royal Lond Ophth Hosp Rep 1906;17:218-22.
-
(1906)
The Royal Lond Ophth Hosp Rep
, vol.17
, pp. 218-222
-
-
Nettleship, E.1
-
19
-
-
0242663766
-
Peculiar coralliform cataract with crystals in the lens
-
Gunn RM. Peculiar coralliform cataract with crystals in the lens. Trans Ophthalmol Soc UK 1895;XV:119.
-
(1895)
Trans Ophthalmol Soc UK
, vol.15
, pp. 119
-
-
Gunn, R.M.1
-
20
-
-
0242579743
-
Die spezifitat auder borener und erworbener starformer fur die einzelnen linsezouene
-
Vogt A, Die spezifitat auder borener und erworbener starformer fur die einzelnen linsezouene. Albrecht Von Graefes Arch Clin Exp Ophth 1922;108:219-28.
-
(1922)
Albrecht Von Graefes Arch Clin Exp Ophth
, vol.108
, pp. 219-228
-
-
Vogt, A.1
-
22
-
-
0025090995
-
Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts
-
Bodker F, Lavery M, Mitchell T, et al. Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts. Am J Med Genet 1990;37:54-9.
-
(1990)
Am J Med Genet
, vol.37
, pp. 54-59
-
-
Bodker, F.1
Lavery, M.2
Mitchell, T.3
-
23
-
-
0031959735
-
A missense mutation in the human connexin 50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q
-
Shiels A, Mackay D, Ionides A, et al. A missense mutation in the human connexin 50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet 1998;62:526-32.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 526-532
-
-
Shiels, A.1
Mackay, D.2
Ionides, A.3
-
24
-
-
0029002373
-
Assignment of congenital cataract Volkmann-type (CCV) to chromosome 1p36
-
Eiberg H, Lund A, Warburg M, et al. Assignment of congenital cataract Volkmann-type (CCV) to chromosome 1p36. Hum Genet 1995;96:33-8.
-
(1995)
Hum Genet
, vol.96
, pp. 33-38
-
-
Eiberg, H.1
Lund, A.2
Warburg, M.3
-
25
-
-
0023715273
-
Marner's cataract (CAM) assigned to chromosome 16: Linkage to haptoglobin
-
Eiberg E, Marner E, Rosenberg T, et al. Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin. Clin Genet 1988;34:272-5.
-
(1988)
Clin Genet
, vol.34
, pp. 272-275
-
-
Eiberg, E.1
Marner, E.2
Rosenberg, T.3
-
26
-
-
0028364446
-
Autosomal dominant congenital cataract, Interocular phenotypic variability
-
Scott M, Hejunancik J, Wozencraft L, et al. Autosomal dominant congenital cataract, Interocular phenotypic variability. Ophthalmology 1994;101:866-71.
-
(1994)
Ophthalmology
, vol.101
, pp. 866-871
-
-
Scott, M.1
Hejunancik, J.2
Wozencraft, L.3
-
27
-
-
0028835546
-
A progressive early onset cataract gene maps to human chromosome 17q24
-
Armitage M, Kivlin J, Ferrel R. A progressive early onset cataract gene maps to human chromosome 17q24. Nat Genet 1995;9:37-40.
-
(1995)
Nat Genet
, vol.9
, pp. 37-40
-
-
Armitage, M.1
Kivlin, J.2
Ferrel, R.3
-
28
-
-
0030217901
-
A second gene for cerulean cataract maps to the beta-crystallin region on chromosome 22
-
Kramer P, Yount J, Michell T, et al. A second gene for cerulean cataract maps to the beta-crystallin region on chromosome 22. Genomics 1996;35:539-42.
-
(1996)
Genomics
, vol.35
, pp. 539-542
-
-
Kramer, P.1
Yount, J.2
Michell, T.3
-
30
-
-
0028181012
-
Activation of the gamma-E-crystallin pseudogene in the human herditary Coppock-like cataract
-
Brackenhoff R, Heskens H, Rossum MV, et al. Activation of the gamma-E-crystallin pseudogene in the human herditary Coppock-like cataract. Hum Mol Genet 1994;3:279-83.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 279-283
-
-
Brackenhoff, R.1
Heskens, H.2
Rossum, M.V.3
-
31
-
-
0001788811
-
Developmental biology of the lens
-
Duncan G, ed. London: Academic Press
-
McAvoy J. Developmental biology of the lens. In: Duncan G, ed. Mechanisms of cataract formation in the human lens. London: Academic Press, 1981:7-46.
-
(1981)
Mechanisms of Cataract Formation in the Human Lens
, pp. 7-46
-
-
McAvoy, J.1
-
32
-
-
0030914095
-
Autosomal dominant congenital cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2
-
Litt M, Carrero-Valenzuela R, LaMorticella D, et al. Autosomal dominant congenital cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet 1997;6:665-8.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 665-668
-
-
Litt, M.1
Carrero-Valenzuela, R.2
Lamorticella, D.3
-
33
-
-
0031934121
-
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
-
Litt M, Kramer P, LaMorticella D, et al. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum Mol Genet 1998;7:471-4.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 471-474
-
-
Litt, M.1
Kramer, P.2
Lamorticella, D.3
-
35
-
-
0025778685
-
Deletion mutation in an eye lens beta-crystallin
-
Chambers C, Russell P. Deletion mutation in an eye lens beta-crystallin. J Biol Chem 1991;266:6742-6.
-
(1991)
J Biol Chem
, vol.266
, pp. 6742-6746
-
-
Chambers, C.1
Russell, P.2
-
36
-
-
0019156310
-
Impaired development of lens fibres in genetic microphthalmia, eye lens obsolescence, elo, of the mouse
-
Oda S-I, Watanabe K, Fujisawa H, et al. Impaired development of lens fibres in genetic microphthalmia, eye lens obsolescence, elo, of the mouse. Exp Eye Res 1980;31:673-81.
-
(1980)
Exp Eye Res
, vol.31
, pp. 673-681
-
-
Oda, S.-I.1
Watanabe, K.2
Fujisawa, H.3
-
37
-
-
0026921910
-
A frameshift mutation in the gammaE-crystallin gene of the ELO mouse
-
Cartier M, Breitman M, Tsui L. A frameshift mutation in the gammaE-crystallin gene of the ELO mouse. Nat Genet 1992;2:42-5.
-
(1992)
Nat Genet
, vol.2
, pp. 42-45
-
-
Cartier, M.1
Breitman, M.2
Tsui, L.3
-
38
-
-
0023358851
-
A gene location for the inheritance of the Cataract Fraser (CatFr) mouse congenital cataract
-
Muggleton-Harris A, Festing M, Hall M. A gene location for the inheritance of the Cataract Fraser (CatFr) mouse congenital cataract. Gen Res Camb 1987;49:235-9.
-
(1987)
Gen Res Camb
, vol.49
, pp. 235-239
-
-
Muggleton-Harris, A.1
Festing, M.2
Hall, M.3
-
39
-
-
0030031158
-
Mutations in the founder of the MIP gene family underlie cataract development in the mouse
-
Shiels A, Bassnett S. Mutations in the founder of the MIP gene family underlie cataract development in the mouse. Nat Genet 1996;12:212-15.
-
(1996)
Nat Genet
, vol.12
, pp. 212-215
-
-
Shiels, A.1
Bassnett, S.2
-
40
-
-
0029060142
-
The small heat shock protein alphaB-crystallin as candidate autoantigen in multiple sclerosis
-
Noort Jv, Sechel Av, Bajramovic J, et al. The small heat shock protein alphaB-crystallin as candidate autoantigen in multiple sclerosis. Nature 1995;375:798-801.
-
(1995)
Nature
, vol.375
, pp. 798-801
-
-
Noort, Jv.1
Sechel, Av.2
Bajramovic, J.3
-
41
-
-
0022471253
-
The gene for the major intrinsic protein (MIP) of the ocular lens is assigned to human chromosome 12cen-q14
-
Sparkes R, Mohandas T, Heinzman C. The gene for the major intrinsic protein (MIP) of the ocular lens is assigned to human chromosome 12cen-q14. Invest Ophthalmol Vis Sci 1986;27:1351-4.
-
(1986)
Invest Ophthalmol Vis Sci
, vol.27
, pp. 1351-1354
-
-
Sparkes, R.1
Mohandas, T.2
Heinzman, C.3
-
43
-
-
0031970686
-
Multifunctional lens crystallins and corneal enzymes. More than meets the eye
-
Piatigorsky J. Multifunctional lens crystallins and corneal enzymes. More than meets the eye. Ann NY Acad Sci 1998; 842:7-15.
-
(1998)
Ann NY Acad Sci
, vol.842
, pp. 7-15
-
-
Piatigorsky, J.1
-
44
-
-
0023225865
-
Recruitment of enzymes as lens structural proteins
-
Wistow G, Piatigorsky J. Recruitment of enzymes as lens structural proteins. Science 1987;236:1554-5.
-
(1987)
Science
, vol.236
, pp. 1554-1555
-
-
Wistow, G.1
Piatigorsky, J.2
-
45
-
-
0024252493
-
T-Crystallin/alpha enolase: One gene encodes both an enzyme and a lens structural protein
-
Wistow G, Leitman T, Williams L, et al. t-Crystallin/alpha enolase: one gene encodes both an enzyme and a lens structural protein. J Cell Biol 1988;107:2729-36.
-
(1988)
J Cell Biol
, vol.107
, pp. 2729-2736
-
-
Wistow, G.1
Leitman, T.2
Williams, L.3
-
46
-
-
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
-
47
-
-
9244251074
-
Linkage of polymorphic congenital cataract to the gamma-crystallin locus on human chromosome 2q33-35
-
Rogaev E, Rogaeva E, Korovaitseva G, F et al. Linkage of polymorphic congenital cataract to the gamma-crystallin locus on human chromosome 2q33-35. Hum Mol Genet 1996;5:699-703.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 699-703
-
-
Rogaev, E.1
Rogaeva, E.2
Korovaitseva, G.3
-
48
-
-
0031811116
-
A novel homeobox gene PITX3 is mutated in families with autosomal dominant cataracts and ASMD
-
Semina E, Ferrell R, Mintz-Hittner H, et al. A novel homeobox gene PITX3 is mutated in families with autosomal dominant cataracts and ASMD. Nat Genet 1998;19:167-70.
-
(1998)
Nat Genet
, vol.19
, pp. 167-170
-
-
Semina, E.1
Ferrell, R.2
Mintz-Hittner, H.3
-
49
-
-
0029095859
-
Autosomal dominant zonular cataract with suturai opacities localised to chromosome 17q11-12
-
Padma X, Ayyagari R, Murty J, et al. Autosomal dominant zonular cataract with suturai opacities localised to chromosome 17q11-12. Am J Hum Genet 1995;57:850-5.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 850-855
-
-
Padma, X.1
Ayyagari, R.2
Murty, J.3
|