-
1
-
-
0027261539
-
Rhodopsin mutations in autosomal dominant retinitis pigmentosa
-
Al-Maghtheh M., Gregory C., Inglehearn C., Hardcastle A. & Bhattacharya S. (1993) Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Human Mutation, 2, 249-55.
-
(1993)
Human Mutation
, vol.2
, pp. 249-255
-
-
Al-Maghtheh, M.1
Gregory, C.2
Inglehearn, C.3
Hardcastle, A.4
Bhattacharya, S.5
-
2
-
-
0021960701
-
Autosomal dominant progressive retinal atrophy in Abyssinian cats
-
Barnett K.C. & Curtis R. (1985) Autosomal dominant progressive retinal atrophy in Abyssinian cats. Journal of Heredity, 76, 168-70.
-
(1985)
Journal of Heredity
, vol.76
, pp. 168-170
-
-
Barnett, K.C.1
Curtis, R.2
-
3
-
-
0027424711
-
Polymorphisms and rare sequence variants at the ROM-1 locus
-
Bascom R.A., Liu L., Humphries P., Fishman G.A., Murray J.C. & McInnes R.R. (1993) Polymorphisms and rare sequence variants at the ROM-1 locus. Human Molecular Genetics, 2, 1975-7.
-
(1993)
Human Molecular Genetics
, vol.2
, pp. 1975-1977
-
-
Bascom, R.A.1
Liu, L.2
Humphries, P.3
Fishman, G.A.4
Murray, J.C.5
McInnes, R.R.6
-
4
-
-
0032900648
-
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
-
Bessant D.A., Payne A.M., Mitton K.P., Wang Q.L., Swain P.K., Plant C., Bird A.C., Zack D.J., Swaroop A. & Bhattacharya S.S. (1999) A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. Nature Genetics, 21, 355-6.
-
(1999)
Nature Genetics
, vol.21
, pp. 355-356
-
-
Bessant, D.A.1
Payne, A.M.2
Mitton, K.P.3
Wang, Q.L.4
Swain, P.K.5
Plant, C.6
Bird, A.C.7
Zack, D.J.8
Swaroop, A.9
Bhattacharya, S.S.10
-
5
-
-
18244377189
-
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
-
Chakarova C.F., Hims M.M., Bolz H et al. (2002) Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Human Molecular Genetics, 11, 87-92.
-
(2002)
Human Molecular Genetics
, vol.11
, pp. 87-92
-
-
Chakarova, C.F.1
Hims, M.M.2
Bolz, H.3
-
6
-
-
0023277545
-
Single step method of RNA isolation by acid guanidinium thiocyanate and phenol-chloroform extraction
-
Chomczynski P. & Sacchi N. (1987) Single step method of RNA isolation by acid guanidinium thiocyanate and phenol-chloroform extraction. Analytical Biochemistry, 162, 156-9.
-
(1987)
Analytical Biochemistry
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
8
-
-
0025952257
-
Oligodeoxyribonucleotide ligation to single-stranded cDNAs: A new tool for cloning 5′ ends of mRNAs and for constructing cDNA libraries by in vitro amplification
-
Edwards J.B., Delort J. & Mallet J. (1991) Oligodeoxyribonucleotide ligation to single-stranded cDNAs: A new tool for cloning 5′ ends of mRNAs and for constructing cDNA libraries by in vitro amplification, Nucleic Acids Research, 19, 5227-32.
-
(1991)
Nucleic Acids Research
, vol.19
, pp. 5227-5232
-
-
Edwards, J.B.1
Delort, J.2
Mallet, J.3
-
9
-
-
0020793569
-
A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity
-
Feinberg A. & Vogelstein B. (1983) A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Analytical Biochemistry, 132, 6-13.
-
(1983)
Analytical Biochemistry
, vol.132
, pp. 6-13
-
-
Feinberg, A.1
Vogelstein, B.2
-
10
-
-
0024212067
-
Rapid production of full length cDNAs from rare transcripts: Amplification using a single gene-specific oligonucleotide primer
-
Frohman M.A., Dush M.K. & Martin G.R. (1988) Rapid production of full length cDNAs from rare transcripts: Amplification using a single gene-specific oligonucleotide primer. Proceedings of the National Academy of Sciences of the USA, 85, 8998-9002.
-
(1988)
Proceedings of the National Academy of Sciences of the USA
, vol.85
, pp. 8998-9002
-
-
Frohman, M.A.1
Dush, M.K.2
Martin, G.R.3
-
11
-
-
0027652897
-
The cat RDS transcript: Candidate gene analysis and phylogenetic sequence analysis
-
Gorin M.B., Snyder S., To A., Narfstrom K. & Curtis R. (1993) The cat RDS transcript: Candidate gene analysis and phylogenetic sequence analysis. Mammalian Genome. 4, 544-8.
-
(1993)
Mammalian Genome
, vol.4
, pp. 544-548
-
-
Gorin, M.B.1
Snyder, S.2
To, A.3
Narfstrom, K.4
Curtis, R.5
-
12
-
-
0031433213
-
Cloning of canine ROM-1 and its investigation as a candidate gene for generalized progressive retinal atrophies in dogs
-
Gould D.J., Petersen-Jones S.M., Lin C.T. & Sargan D.R. (1997) Cloning of canine ROM-1 and its investigation as a candidate gene for generalized progressive retinal atrophies in dogs. Animal Genetics. 28, 391-6.
-
(1997)
Animal Genetics
, vol.28
, pp. 391-396
-
-
Gould, D.J.1
Petersen-Jones, S.M.2
Lin, C.T.3
Sargan, D.R.4
-
13
-
-
0001913785
-
Sample preparation from blood, cells and other fluids
-
Eds by M.A. Innis. D.H. Gelfand, J.J. Sninsky. T.J. White. Academic Press Inc., London, UK
-
Kawasaki E.S. (1990) Sample preparation from blood, cells and other fluids. In: PCR Protocols: A Guide to Methods and Applications (Eds by M.A. Innis. D.H. Gelfand, J.J. Sninsky. T.J. White), pp. 146-52. Academic Press Inc., London, UK.
-
(1990)
PCR Protocols: A Guide to Methods and Applications
, pp. 146-152
-
-
Kawasaki, E.S.1
-
14
-
-
0035878541
-
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)
-
McKie A.B., McHale J.C., Keen T.J. et al. (2001) Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Human Molecular Genetics, 10, 1555-62.
-
(2001)
Human Molecular Genetics
, vol.10
, pp. 1555-1562
-
-
McKie, A.B.1
McHale, J.C.2
Keen, T.J.3
-
15
-
-
0026755548
-
Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene
-
Michaud J., Brady L.C., Steel G., Fontaine G., Martin L.S., Valle D. & Mitchell G. (1992) Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene. Genomics, 13, 389-94.
-
(1992)
Genomics
, vol.13
, pp. 389-394
-
-
Michaud, J.1
Brady, L.C.2
Steel, G.3
Fontaine, G.4
Martin, L.S.5
Valle, D.6
Mitchell, G.7
-
16
-
-
0024595101
-
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
-
Orita M., Iwahana H., Kanazawa H., Hayashi K. & Sekiya T. (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proceedings of the National Academy of Sciences of the USA. 86. 2766-70.
-
(1989)
Proceedings of the National Academy of Sciences of the USA
, vol.86
, pp. 2766-2770
-
-
Orita, M.1
Iwahana, H.2
Kanazawa, H.3
Hayashi, K.4
Sekiya, T.5
-
17
-
-
0028276239
-
Nucleotide sequence of the canine rod-opsin-encoding gene
-
Petersen-Jones S.M., Sohal A.K. & Sargan D.R. (1994) Nucleotide sequence of the canine rod-opsin-encoding gene. Gene. 143, 281-4.
-
(1994)
Gene
, vol.143
, pp. 281-284
-
-
Petersen-Jones, S.M.1
Sohal, A.K.2
Sargan, D.R.3
-
18
-
-
0034622122
-
A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes
-
Phelan J.K. & Bok D. (2000) A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes. Molecular Vision, 6, 116-24.
-
(2000)
Molecular Vision
, vol.6
, pp. 116-124
-
-
Phelan, J.K.1
Bok, D.2
-
19
-
-
0004136246
-
-
Cold Spring Harbor Laboratory Press, USA
-
Sambrook J., Fritsch E.F. & Maniatis T. (1989) Molecular Cloning, a Laboratory Manual, 2nd edn. Cold Spring Harbor Laboratory Press, USA.
-
(1989)
Molecular Cloning, a Laboratory Manual, 2nd Edn.
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
20
-
-
0032231603
-
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene
-
Sohocki M.M., Sullivan L.S., Mintz-Hittner H.A., Birch D., Heckenlively J.R., Freund C.L., McInnes R.R. & Daiger S.P. (1998) A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. American Journal of Human Genetics, 63, 1307-15.
-
(1998)
American Journal of Human Genetics
, vol.63
, pp. 1307-1315
-
-
Sohocki, M.M.1
Sullivan, L.S.2
Mintz-Hittner, H.A.3
Birch, D.4
Heckenlively, J.R.5
Freund, C.L.6
McInnes, R.R.7
Daiger, S.P.8
-
21
-
-
0032989251
-
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa
-
Sullivan L.S., Heckenlively J.R., Bowne S.J., Zuo J., Hide W.A., Gal A., Denton M., Inglehearn C.F., Blanton S.H. & Daiger S.P. (1999) Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nature Genetics, 22, 255-9.
-
(1999)
Nature Genetics
, vol.22
, pp. 255-259
-
-
Sullivan, L.S.1
Heckenlively, J.R.2
Bowne, S.J.3
Zuo, J.4
Hide, W.A.5
Gal, A.6
Denton, M.7
Inglehearn, C.F.8
Blanton, S.H.9
Daiger, S.P.10
-
22
-
-
0027982001
-
Comparative sensitivity of alternative single-strand conformation polymorphism (SSCP) methods
-
Vidal-Puig A. & Moller D.E. (1994) Comparative sensitivity of alternative single-strand conformation polymorphism (SSCP) methods. Biotechnology. 17, 490-6.
-
(1994)
Biotechnology
, vol.17
, pp. 490-496
-
-
Vidal-Puig, A.1
Moller, D.E.2
-
23
-
-
17944379537
-
A human homologue of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)
-
Vithana, E.N., Abu-Safieh, L., Allen, M.J. et al. (2001) A human homologue of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Molecular Cell, 8, 375-81.
-
(2001)
Molecular Cell
, vol.8
, pp. 375-381
-
-
Vithana, E.N.1
Abu-Safieh, L.2
Allen, M.J.3
-
24
-
-
0034841808
-
Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa
-
Wada Y., Abe T., Takeshita T., Sato H., Yanashima K. & Tamai M. (2001) Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. Investigative Ophthalmology and Visual Sciences. 42. 2395-400.
-
(2001)
Investigative Ophthalmology and Visual Sciences
, vol.42
, pp. 2395-2400
-
-
Wada, Y.1
Abe, T.2
Takeshita, T.3
Sato, H.4
Yanashima, K.5
Tamai, M.6
-
25
-
-
0029806253
-
Ret 1, a cis-acting element of the rat opsin promoter, can direct gene expression in rod photoreceptors
-
Yu X., Leconte L., Martinez J.A. & Barnstable C.J. (1996) Ret 1, a cis-acting element of the rat opsin promoter, can direct gene expression in rod photoreceptors. Journal of Neurochemistry, 67, 2494-504.
-
(1996)
Journal of Neurochemistry
, vol.67
, pp. 2494-2504
-
-
Yu, X.1
Leconte, L.2
Martinez, J.A.3
Barnstable, C.J.4
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