-
1
-
-
0025043276
-
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa
-
Dryja TP, McGee TL, Hahn LB, et al. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med 1990;323:1302-7.
-
(1990)
N Engl J Med
, vol.323
, pp. 1302-1307
-
-
Dryja, T.P.1
McGee, T.L.2
Hahn, L.B.3
-
2
-
-
0025720710
-
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
-
Kajiwara K, Hahn LB, Mukai S, et al. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 1991;354:480-3.
-
(1991)
Nature
, vol.354
, pp. 480-483
-
-
Kajiwara, K.1
Hahn, L.B.2
Mukai, S.3
-
3
-
-
0027309259
-
A new locus for autosomal dominant retinitis pigmentosa of chromosome 7p
-
Inglehearn CF, Carter SA, Keen TJ, et al. A new locus for autosomal dominant retinitis pigmentosa of chromosome 7p. Nature Genet 1993;4:51-3.
-
(1993)
Nature Genet
, vol.4
, pp. 51-53
-
-
Inglehearn, C.F.1
Carter, S.A.2
Keen, T.J.3
-
4
-
-
0027155177
-
Localisation of an autosomal dominant retinitis pigmentosa gene to chromosome 7q
-
Jordan SA, Farrar GJ, Kenna P, et al. Localisation of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. Nature Genet 1993;4:54-7.
-
(1993)
Nature Genet
, vol.4
, pp. 54-57
-
-
Jordan, S.A.1
Farrar, G.J.2
Kenna, P.3
-
5
-
-
0026347736
-
Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8
-
Blanton SH, Heckenlively JR, Cottingham AW, et al. Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics 1991;11:857-69.
-
(1991)
Genomics
, vol.11
, pp. 857-869
-
-
Blanton, S.H.1
Heckenlively, J.R.2
Cottingham, A.W.3
-
6
-
-
0028363788
-
A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17
-
Greenberg J, Goliath R, Beighton P, et al. A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. Hum Mol Genet 1994;3:915-18.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 915-918
-
-
Greenberg, J.1
Goliath, R.2
Beighton, P.3
-
7
-
-
0029143376
-
An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q
-
Bardein S, Ebenezer N, Greenberg J, et al. An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. Hum Mol Genet 1995;4:1459-62.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1459-1462
-
-
Bardein, S.1
Ebenezer, N.2
Greenberg, J.3
-
8
-
-
0028123295
-
Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19
-
Al-Maghtheh M, Inglehearn CF, Keen TJ, et al. Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet 1994;3:351-4.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 351-354
-
-
Al-Maghtheh, M.1
Inglehearn, C.F.2
Keen, T.J.3
-
9
-
-
0026806187
-
Autosomal dominant retinitis pigmentosa (ADRP): A rhodopsin mutation in a Scottish family
-
Bell C, Converse CA, Collins MF, et al. Autosomal dominant retinitis pigmentosa (ADRP): a rhodopsin mutation in a Scottish family. J Med Genet 1992;29:667-8.
-
(1992)
J Med Genet
, vol.29
, pp. 667-668
-
-
Bell, C.1
Converse, C.A.2
Collins, M.F.3
-
10
-
-
0028575408
-
Rhodopsin mutation in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four
-
Bell C, Converse CA, Hammer HM, et al. Rhodopsin mutation in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four. Br J Ophthalmol 1994;78:933-8.
-
(1994)
Br J Ophthalmol
, vol.78
, pp. 933-938
-
-
Bell, C.1
Converse, C.A.2
Hammer, H.M.3
-
11
-
-
0006695192
-
Specific cloning of DNA fragments absent from cDNA of a male patient with an X chromosome deletion
-
Kunkel LM, Monaco AP, Middlesworth W, et al. Specific cloning of DNA fragments absent from cDNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci USA 1985;88:4778-82.
-
(1985)
Proc Natl Acad Sci USA
, vol.88
, pp. 4778-4782
-
-
Kunkel, L.M.1
Monaco, A.P.2
Middlesworth, W.3
-
12
-
-
0023933932
-
Efficient computations in multipoint linkage analysis
-
Lathrop GM, Lalouel J-M. Efficient computations in multipoint linkage analysis. Am J Hum Genet 1988;42:498-505.
-
(1988)
Am J Hum Genet
, vol.42
, pp. 498-505
-
-
Lathrop, G.M.1
Lalouel, J.-M.2
-
13
-
-
0028831395
-
Evidence for a major gene (RP10) for adRP on chromosome 7q: Linkage mapping in a second unrelated family
-
McGuire RE, Gannon AM, Sullivan LS, et al. Evidence for a major gene (RP10) for adRP on chromosome 7q: linkage mapping in a second unrelated family. Hum Genet 1995;95:71-4.
-
(1995)
Hum Genet
, vol.95
, pp. 71-74
-
-
McGuire, R.E.1
Gannon, A.M.2
Sullivan, L.S.3
-
14
-
-
0029048954
-
An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q
-
Millan JM, Martinez F, Vilela C, et al. An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q. Hum Genet 1995;96:216-18.
-
(1995)
Hum Genet
, vol.96
, pp. 216-218
-
-
Millan, J.M.1
Martinez, F.2
Vilela, C.3
|