-
1
-
-
0023520914
-
Congenital ocular blindness in children, 1945 to 1984
-
Robinson GC, Jan JE, Kinnis C. Congenital ocular blindness in children, 1945 to 1984. Am J Dis Child 1987; 141:1321-4.
-
(1987)
Am J Dis Child
, vol.141
, pp. 1321-1324
-
-
Robinson, G.C.1
Jan, J.E.2
Kinnis, C.3
-
4
-
-
0025292147
-
Magnitude and causes of blindness in the developing world
-
Foster A, Johnson GJ. Magnitude and causes of blindness in the developing world. Int Ophthalmol 1990; 14:135-40.
-
(1990)
Int Ophthalmol
, vol.14
, pp. 135-140
-
-
Foster, A.1
Johnson, G.J.2
-
5
-
-
0034828624
-
A gene causing autosomal recessive cataract maps to the short arm of chromosome 3
-
Pras E, Pras E, Bakhan T, Levy-Nissenbaum E, Lahat H, Assia EI, Garzozi HJ, Kastner DL, Goldman B, Frydman M. A gene causing autosomal recessive cataract maps to the short arm of chromosome 3. Isr Med Assoc J 2001; 3:559-62.
-
(2001)
Isr Med Assoc J
, vol.3
, pp. 559-562
-
-
Pras, E.1
Pras, E.2
Bakhan, T.3
Levy-Nissenbaum, E.4
Lahat, H.5
Assia, E.I.6
Garzozi, H.J.7
Kastner, D.L.8
Goldman, B.9
Frydman, M.10
-
6
-
-
3042580045
-
A nonsense mutation in the glucosaminyl (Nacetyl) transferase 2 gene (GCNT2): Association with autosomal recessive congenital cataracts
-
Pras E, Raz J, Yahalom V, Frydman M, Garzozi HJ, Pras E, Hejtmancik JF. A nonsense mutation in the glucosaminyl (Nacetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. Invest Ophthalmol Vis Sci 2004; 45:1940-5.
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 1940-1945
-
-
Pras, E.1
Raz, J.2
Yahalom, V.3
Frydman, M.4
Garzozi, H.J.5
Pras, E.6
Hejtmancik, J.F.7
-
7
-
-
0035094223
-
A progressive autosomal recessive. cataract locus maps to chromosome 9q13-q22
-
Heon E, Paterson AD, Fraser M,Billingsley G, Priston M, Balmer A, Schorderet DF, Verner A, Hudson TJ, Munier FL. A progressive autosomal recessive. cataract locus maps to chromosome 9q13-q22. Am J Hum Genet 2001; 68:772-7.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 772-777
-
-
Heon, E.1
Paterson, A.D.2
Fraser, M.3
Billingsley, G.4
Priston, M.5
Balmer, A.6
Schorderet, D.F.7
Verner, A.8
Hudson, T.J.9
Munier, F.L.10
-
8
-
-
3242880191
-
A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract
-
Smaoui N, Beltaief O, BenHamed S, M'Rad R, Maazoul F, Ouertani A, Chaabouni H, Hejtmancik JF. A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci 2004; 45:2716-21.
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 2716-2721
-
-
Smaoui, N.1
Beltaief, O.2
BenHamed, S.3
M'Rad, R.4
Maazoul, F.5
Ouertani, A.6
Chaabouni, H.7
Hejtmancik, J.F.8
-
9
-
-
13944275879
-
Anew locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family
-
Riazuddin SA, Yasmeen A, Zhang Q, Yao W, Sabar MF, Ahmed Z, Riazuddin S, Hejtmancik JF. Anew locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family. Invest Ophthalmol Vis Sci 2005; 46:623-6.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 623-626
-
-
Riazuddin, S.A.1
Yasmeen, A.2
Zhang, Q.3
Yao, W.4
Sabar, M.F.5
Ahmed, Z.6
Riazuddin, S.7
Hejtmancik, J.F.8
-
10
-
-
0036235720
-
A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in ran inbred Iraqi Jewish family
-
Pras E, Levy-Nissenbaum E, Bakhan T, Lahat H, Assia E, Geffen-Carmi N, Frydman M, Goldman B, Pras E. A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in ran inbred Iraqi Jewish family. Am J Hum Genet 2002; 70:1363-7.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1363-1367
-
-
Pras, E.1
Levy-Nissenbaum, E.2
Bakhan, T.3
Lahat, H.4
Assia, E.5
Geffen-Carmi, N.6
Frydman, M.7
Goldman, B.8
Pras, E.9
-
11
-
-
0033771250
-
A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family
-
Pras E, Frydman M, Levy-Nissenbaum E, Bakhan T, Raz J, Assia EI, Goldman B, Pras E. A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. Invest Ophthalmol Vis Sci 2000; 41:3511-5.
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, pp. 3511-3515
-
-
Pras, E.1
Frydman, M.2
Levy-Nissenbaum, E.3
Bakhan, T.4
Raz, J.5
Assia, E.I.6
Goldman, B.7
Pras, E.8
-
12
-
-
22144453269
-
Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families
-
Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF. Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci 2005; 46:2100-6.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 2100-2106
-
-
Riazuddin, S.A.1
Yasmeen, A.2
Yao, W.3
Sergeev, Y.V.4
Zhang, Q.5
Zulfiqar, F.6
Riaz, A.7
Riazuddin, S.8
Hejtmancik, J.F.9
-
13
-
-
34548826683
-
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract
-
Ponnam SP, Ramesha K, Tejwani S, Ramamurthy B, Kannabiran C. Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract. J Med Genet 2007; 44:e85.
-
(2007)
J Med Genet
, vol.44
-
-
Ponnam, S.P.1
Ramesha, K.2
Tejwani, S.3
Ramamurthy, B.4
Kannabiran, C.5
-
14
-
-
34147101803
-
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1
-
Ramachandran RD, Perumalsamy V, Hejtmancik JF. Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Hum Genet 2007; 121:475-82.
-
(2007)
Hum Genet
, vol.121
, pp. 475-482
-
-
Ramachandran, R.D.1
Perumalsamy, V.2
Hejtmancik, J.F.3
-
15
-
-
34250176540
-
Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract
-
Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci 2007; 48:2208-13.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 2208-2213
-
-
Cohen, D.1
Bar-Yosef, U.2
Levy, J.3
Gradstein, L.4
Belfair, N.5
Ofir, R.6
Joshua, S.7
Lifshitz, T.8
Carmi, R.9
Birk, O.S.10
-
16
-
-
0029002373
-
Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36
-
Eiberg H, Lund AM, Warburg M, Rosenberg T. 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.M.2
Warburg, M.3
Rosenberg, T.4
-
17
-
-
21344462597
-
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes
-
McKay JD, Patterson B, Craig JE, Russell-Eggitt IM, Wirth MG, Burdon KP, Hewitt AW, Cohn AC, Kerdraon Y, Mackey DA. The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes. Br J Ophthalmol 2005; 89:831-4.
-
(2005)
Br J Ophthalmol
, vol.89
, pp. 831-834
-
-
McKay, J.D.1
Patterson, B.2
Craig, J.E.3
Russell-Eggitt, I.M.4
Wirth, M.G.5
Burdon, K.P.6
Hewitt, A.W.7
Cohn, A.C.8
Kerdraon, Y.9
Mackey, D.A.10
-
18
-
-
0031021393
-
A locus for autosomal dominant posterior polar cataract on chromosome 1p
-
Ionides AC, Berry V, Mackay DS, Moore AT, Bhattacharya SS, Shiels A. 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.C.1
Berry, V.2
Mackay, D.S.3
Moore, A.T.4
Bhattacharya, S.S.5
Shiels, A.6
-
19
-
-
0024427198
-
A simple and efficient non-organic procedure for the isolation of genomic DNA from blood
-
Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 1989; 17:8390.
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 8390
-
-
Grimberg, J.1
Nawoschik, S.2
Belluscio, L.3
McKee, R.4
Turck, A.5
Eisenberg, A.6
-
21
-
-
0021344005
-
Easy calculations of lod scores and genetic risks on small computers
-
Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984; 36:460-5.
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
22
-
-
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; 62:526-32.
-
(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
-
23
-
-
0030914095
-
Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2
-
Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH. Autosomal dominant cerulean 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.M.3
Schultz, D.W.4
Mitchell, T.N.5
Kramer, P.6
Maumenee, I.H.7
-
24
-
-
0033986327
-
Genetic heterogeneity of the Coppock-like cataract: A mutation in CRYBB2 on chromosome 22q11.2
-
Gill D, Klose R, Munier FL, McFadden M, Priston M, Billingsley G, Ducrey N, Schorderet DF, Heon E. Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. Invest Ophthalmol Vis Sci 2000; 41:159-65.
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, pp. 159-165
-
-
Gill, D.1
Klose, R.2
Munier, F.L.3
McFadden, M.4
Priston, M.5
Billingsley, G.6
Ducrey, N.7
Schorderet, D.F.8
Heon, E.9
-
25
-
-
0034987735
-
A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene
-
Vanita, Sarhadi V, Reis A, Jung M, Singh D, Sperling K, Singh JR, Burger J. A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. J Med Genet 2001; 38:392-6.
-
(2001)
J Med Genet
, vol.38
, pp. 392-396
-
-
Vanita1
Sarhadi, V.2
Reis, A.3
Jung, M.4
Singh, D.5
Sperling, K.6
Singh, J.R.7
Burger, J.8
-
26
-
-
0036844004
-
A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q
-
Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A. A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. Am J Hum Genet 2002; 71:1216-21.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1216-1221
-
-
Mackay, D.S.1
Boskovska, O.B.2
Knopf, H.L.3
Lampi, K.J.4
Shiels, A.5
|