-
1
-
-
0028835546
-
A progressively early onset cataract gene maps to human chromosome 17q24
-
Armitage MM, Kivlin JD, Ferell RE (1995) A progressively early onset cataract gene maps to human chromosome 17q24. Nat Genet 9:37-40
-
(1995)
Nat Genet
, vol.9
, pp. 37-40
-
-
Armitage, M.M.1
Kivlin, J.D.2
Ferell, R.E.3
-
2
-
-
0023732713
-
A computer program to make analysis with LIPED and LINKAGE easier to perform and less prone to input errors
-
Attwood J, Bryant SA (1988) A computer program to make analysis with LIPED and LINKAGE easier to perform and less prone to input errors. Ann Hum Genet 52:259
-
(1988)
Ann Hum Genet
, vol.52
, pp. 259
-
-
Attwood, J.1
Bryant, S.A.2
-
3
-
-
0027772413
-
Connexin mutations in X-linked Charcot-Marie-Tooth Disease
-
Bergoffen J, Scherer SS, Wang S, Oronzi Scott M, Bone LJ, Paul DL, Chen K, et al (1993) Connexin mutations in X-linked Charcot-Marie-Tooth Disease. Science 262:2039-2042
-
(1993)
Science
, vol.262
, pp. 2039-2042
-
-
Bergoffen, J.1
Scherer, S.S.2
Wang, S.3
Oronzi Scott, M.4
Bone, L.J.5
Paul, D.L.6
Chen, K.7
-
4
-
-
0030066487
-
A locus for autosomal dominant anterior polar cataract on chromosome 17p
-
Berry V, Ionides ACW, Moore AT, Plant C, Bhattacharya SS, Shiels A (1996) A locus for autosomal dominant anterior polar cataract on chromosome 17p. Hum Mol Genet 5: 415-419
-
(1996)
Hum Mol Genet
, vol.5
, pp. 415-419
-
-
Berry, V.1
Ionides, A.C.W.2
Moore, A.T.3
Plant, C.4
Bhattacharya, S.S.5
Shiels, A.6
-
5
-
-
0028181012
-
Activation of the γE-crystallin pseudogene in the human hereditary Coppock-like cataract
-
Brakenhoff RH, Henskens HAM, van Rossum MWPC, Lubsen NH, Schoenmakers JGG (1994) Activation of the γE-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
-
6
-
-
0029060788
-
Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality
-
Britz-Cunningham SH, Shah MM, Zuppan CW, Fletcher WH (1995) Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med 332:1323-1329
-
(1995)
N Engl J Med
, vol.332
, pp. 1323-1329
-
-
Britz-Cunningham, S.H.1
Shah, M.M.2
Zuppan, C.W.3
Fletcher, W.H.4
-
7
-
-
0026921910
-
A frameshift mutation in the γE-crystallin gene of the Elo mouse
-
Cartier M, Breitman ML, Tsui L-C (1992) A frameshift mutation in the γE-crystallin gene of the Elo mouse. Nat Genet 2:42-45
-
(1992)
Nat Genet
, vol.2
, pp. 42-45
-
-
Cartier, M.1
Breitman, M.L.2
Tsui, L.-C.3
-
8
-
-
0025778685
-
Deletion mutation in an eye lens β-crystallin
-
Chambers C, Russell P (1991) Deletion mutation in an eye lens β-crystallin. J Biol Chem 266:6742-6746
-
(1991)
J Biol Chem
, vol.266
, pp. 6742-6746
-
-
Chambers, C.1
Russell, P.2
-
9
-
-
0028848386
-
The human lens intrinsic membrane protein MP70 (CX50) gene: Clonal analysis and chromosome mapping
-
Church RL, Wang J-H, Steele E (1995) The human lens intrinsic membrane protein MP70 (CX50) gene: clonal analysis and chromosome mapping. Curr Eye Res 14:215-221
-
(1995)
Curr Eye Res
, vol.14
, pp. 215-221
-
-
Church, R.L.1
Wang, J.-H.2
Steele, E.3
-
10
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
-
11
-
-
0029002373
-
Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36
-
Eiberg H, Lund AM, Warburg M, Rosenberg T (1995) Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. Hum Genet 96:33-38
-
(1995)
Hum Genet
, vol.96
, pp. 33-38
-
-
Eiberg, H.1
Lund, A.M.2
Warburg, M.3
Rosenberg, T.4
-
12
-
-
0020064030
-
Genetics of cataract
-
Francois J (1982) Genetics of cataract. Ophthalmologica 184: 61-71
-
(1982)
Ophthalmologica
, vol.184
, pp. 61-71
-
-
Francois, J.1
-
13
-
-
0031021393
-
A locus for autosomal dominant posterior polar cataract on chromosome 1p
-
Ionides ACW, Berry V, Mackay DS, Moore AT, Bhattacharya SS, Shiels A (1997) A locus for autosomal dominant posterior polar cataract on chromosome 1p. Hum Mol Genet 6: 47-51
-
(1997)
Hum Mol Genet
, vol.6
, pp. 47-51
-
-
Ionides, A.C.W.1
Berry, V.2
Mackay, D.S.3
Moore, A.T.4
Bhattacharya, S.S.5
Shiels, A.6
-
14
-
-
0030217901
-
A second locus for cerulean cataract maps to the β-crystallin region on chromosome 22
-
Kramer P, Yount J, Mitchell T, LaMorticella D, Carrero-Valenzuela R, Lovrien E, Maumenee I, et al (1996) A second locus for cerulean cataract maps to the β-crystallin region on chromosome 22. Genomics 35:539-542
-
(1996)
Genomics
, vol.35
, pp. 539-542
-
-
Kramer, P.1
Yount, J.2
Mitchell, T.3
LaMorticella, D.4
Carrero-Valenzuela, R.5
Lovrien, E.6
Maumenee, I.7
-
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
-
-
0024334955
-
Autosmal dominant congenital cataract: Morphology and genetic mapping
-
Marner E, Rosenberg T, Eiberg H (1989) Autosmal dominant congenital cataract: morphology and genetic mapping. Acta Ophthalmol 67:151-158
-
(1989)
Acta Ophthalmol
, vol.67
, pp. 151-158
-
-
Marner, E.1
Rosenberg, T.2
Eiberg, H.3
-
19
-
-
0030587495
-
Mapping of rupture of lens cataract (rlc) on mouse chromosome 14
-
Matsushima Y, Kamoto T, Iida F, Abujiang P, Honda Y, Hiai H (1996) Mapping of rupture of lens cataract (rlc) on mouse chromosome 14. Genomics 36:553-554
-
(1996)
Genomics
, vol.36
, pp. 553-554
-
-
Matsushima, Y.1
Kamoto, T.2
Iida, F.3
Abujiang, P.4
Honda, Y.5
Hiai, H.6
-
20
-
-
0018563876
-
Classification of hereditary cataracts in children by linkage analysis
-
Maumenee IH (1979) Classification of hereditary cataracts in children by linkage analysis. Ophthalmology 86:1554-1558
-
(1979)
Ophthalmology
, vol.86
, pp. 1554-1558
-
-
Maumenee, I.H.1
-
23
-
-
0029985259
-
Assignment of connexin 26 (GJB2) and 46 (GJB3) genes to human chromosome 13q11-q12 and mouse chromosome 14D1-E1 by in situ hybridisation
-
Mignon C, Fromaget C, Mattei M-G, Gros D, Yamasaki H, Mesnil M (1996) Assignment of connexin 26 (GJB2) and 46 (GJB3) genes to human chromosome 13q11-q12 and mouse chromosome 14D1-E1 by in situ hybridisation. Cytogenet Cell Genet 72:185-186
-
(1996)
Cytogenet Cell Genet
, vol.72
, pp. 185-186
-
-
Mignon, C.1
Fromaget, C.2
Mattei, M.-G.3
Gros, D.4
Yamasaki, H.5
Mesnil, M.6
-
24
-
-
0001583612
-
Seven new pedigrees of hereditary cataract
-
Nettleship E (1909) Seven new pedigrees of hereditary cataract. Trans Ophthalmol Soc UK 29:188-211
-
(1909)
Trans Ophthalmol Soc UK
, vol.29
, pp. 188-211
-
-
Nettleship, E.1
-
25
-
-
0029095859
-
Autosomal dominant zonular cataract with suturai opacities localized to chromosome 17q11-12
-
Padma T, Ayyagari R, Murty JS, Basti S, Fletcher T, Rao GN, Kaiser-Kupfer M, et al (1995) Autosomal dominant zonular cataract with suturai opacities localized to chromosome 17q11-12. Am J Hum Genet 57:840-845
-
(1995)
Am J Hum Genet
, vol.57
, pp. 840-845
-
-
Padma, T.1
Ayyagari, R.2
Murty, J.S.3
Basti, S.4
Fletcher, T.5
Rao, G.N.6
Kaiser-Kupfer, M.7
-
26
-
-
0026352039
-
Connexin 46, a novel lens gap junction protein, induces voltage-gated currents in nonjunctional plasma membrane of Xenopns oocytes
-
Paul DL, Ebihara L, Takemoto LJ, Goodenough DA (1991) Connexin 46, a novel lens gap junction protein, induces voltage-gated currents in nonjunctional plasma membrane of Xenopns oocytes. J Cell Biol 115:1077-1089
-
(1991)
J Cell Biol
, vol.115
, pp. 1077-1089
-
-
Paul, D.L.1
Ebihara, L.2
Takemoto, L.J.3
Goodenough, D.A.4
-
27
-
-
0002288531
-
Probable linkage between a congenital cataract locus and the duffy blood group locus
-
Renwick JH, Lawler SD (1963) Probable linkage between a congenital cataract locus and the duffy blood group locus. Ann Hum Genet 27:67-84
-
(1963)
Ann Hum Genet
, vol.27
, pp. 67-84
-
-
Renwick, J.H.1
Lawler, S.D.2
-
29
-
-
0026739488
-
A guinea-pig hereditary cataract contains a splice-site deletion in a crystallin gene
-
Rodriguez IR, Gonzalez P, Zigler JS, Borras T (1992) A guinea-pig hereditary cataract contains a splice-site deletion in a crystallin gene. Biochim Biophys Acta 1180:44-52
-
(1992)
Biochim Biophys Acta
, vol.1180
, pp. 44-52
-
-
Rodriguez, I.R.1
Gonzalez, P.2
Zigler, J.S.3
Borras, T.4
-
30
-
-
9244251074
-
Linkage of polymorphic congenital cataract to the γ-crysrallin gene locus on human chromosome 2q33-q35
-
Rogaev EI, Rogaeva EA, Korovaitseva GI, Farrar LA, Petrin AN, Keryanov SA, Turaeva S, et al (1996) Linkage of polymorphic congenital cataract to the γ-crysrallin gene locus on human chromosome 2q33-q35. Hum Mol Genet 5:699-703
-
(1996)
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
-
32
-
-
0026474825
-
Chromosomal assignments of mouse connexin genes, coding for gap-junctional proteins, by somatic cell hybridisation
-
Schwartz HJ, Chang YS, Hennemann H, Dahl E, Lalley PA, Willecke K (1992) Chromosomal assignments of mouse connexin genes, coding for gap-junctional proteins, by somatic cell hybridisation. Somat Cell Mol Genet 18:351-359
-
(1992)
Somat Cell Mol Genet
, vol.18
, pp. 351-359
-
-
Schwartz, H.J.1
Chang, Y.S.2
Hennemann, H.3
Dahl, E.4
Lalley, P.A.5
Willecke, K.6
-
33
-
-
0028364446
-
Autosomal dominant congenital cataract-interocular phenotypic variability
-
Scott MH, Hejtmancik JF, Wozencraft LA, Reuter LM, Parks MM, Kaiser-Kupfer MI (1994) Autosomal dominant congenital cataract-interocular phenotypic variability. 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
-
34
-
-
0030031158
-
Mutations in the founder of the MIP gene family underlie cataract development in the mouse
-
Shiels A, Bassnett S (1996) Mutations in the founder of the MIP gene family underlie cataract development in the mouse. Nat Genet 12:212-215
-
(1996)
Nat Genet
, vol.12
, pp. 212-215
-
-
Shiels, A.1
Bassnett, S.2
|