-
1
-
-
0025105161
-
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
-
Dryja, T.P., McGee,T.L., Reichel,E., Hahn,L.B., Cowley,G.S., Yandell,D.W., Sandberg,M.A. and Berson,E.L. (1990) A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature, 343, 364-366.
-
(1990)
Nature
, vol.343
, pp. 364-366
-
-
Dryja, T.P.1
McGee, T.L.2
Reichel, E.3
Hahn, L.B.4
Cowley, G.S.5
Yandell, D.W.6
Sandberg, M.A.7
Berson, E.L.8
-
2
-
-
0028789921
-
Autosomal recessive retinitis pigmentosa caused by mutations in the a subunit of rod cGMP phosphodiesterase
-
Huang,S.H., Pittler,S.J., Huang,X.H., Oliveira,L., Berson,E.L. and Dryja,T.P. (1995) Autosomal recessive retinitis pigmentosa caused by mutations in the a subunit of rod cGMP phosphodiesterase. Nature Genet., 11, 468-171.
-
(1995)
Nature Genet.
, vol.11
, pp. 468-1171
-
-
Huang, S.H.1
Pittler, S.J.2
Huang, X.H.3
Oliveira, L.4
Berson, E.L.5
Dryja, T.P.6
-
3
-
-
0027270053
-
Recessive mutations in the gene encoding the b-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
-
McLaughlin,M.E., Sandberg,M.A., Berson,E.L. and Dryja,T.P. (1993) Recessive mutations in the gene encoding the b-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nature Genet., 4, 130-134.
-
(1993)
Nature Genet.
, vol.4
, pp. 130-134
-
-
McLaughlin, M.E.1
Sandberg, M.A.2
Berson, E.L.3
Dryja, T.P.4
-
4
-
-
0025721075
-
A three-base-pair deletion in the peripherin-rds gene in one form of retinitis pigmentosa
-
Farrar,G.J., Kenna,P., Jordan,S.A., Kumar-Singh,R., Humphries,M.M., Sharp,E.M., Sheils,D.M. and Humphries,P. (1991) A three-base-pair deletion in the peripherin-rds gene in one form of retinitis pigmentosa. Nature, 354, 478-480.
-
(1991)
Nature
, vol.354
, pp. 478-480
-
-
Farrar, G.J.1
Kenna, P.2
Jordan, S.A.3
Kumar-Singh, R.4
Humphries, M.M.S.5
Sheils, D.M.6
Humphries, P.7
Sharp, E.M.8
-
5
-
-
0028245437
-
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/rds and ROM 1 loci
-
Kajiwara,K., Berson,E.L. and Dryja,T.P. (1994) Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/rds and ROM 1 loci. Science, 264, 1604-1608.
-
(1994)
Science
, vol.264
, pp. 1604-1608
-
-
Kajiwara, K.1
Berson, E.L.2
Dryja, T.P.3
-
6
-
-
0019971687
-
On the heredity of retinitis pigmentosa
-
Jay,M. (1982) On the heredity of retinitis pigmentosa. Br. J. Ophthalmol., 66, 405-116.
-
(1982)
Br. J. Ophthalmol.
, vol.66
, pp. 405-1116
-
-
Jay, M.1
-
7
-
-
0027234560
-
Retinitis pigmentosa: Problems associated with genetic classification
-
Haim,M. (1993) Retinitis pigmentosa: problems associated with genetic classification. Clin. Genet., 44, 62-70.
-
(1993)
Clin. Genet.
, vol.44
, pp. 62-70
-
-
Haim, M.1
-
8
-
-
0024447375
-
Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci
-
Chen,J.D., Halliday,F., Keith,G., Sheffield,L., Dickinson,P., Gray,R., Constable,I. and Denton,M. (1989) Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci. Am. J. Hum. Genet., 45, 401-411.
-
(1989)
Am. J. Hum. Genet.
, vol.45
, pp. 401-411
-
-
Chen, J.D.1
Halliday, F.2
Keith, G.3
Sheffield, L.4
Dickinson, P.5
Gray, R.6
Constable, I.7
Denton, M.8
-
9
-
-
0027998708
-
Heterogeneity analysis in 40 X-linked retinitis pigmentosa families
-
Teague,P.W., Aldred,M.A., Jay,M., Dempster,M., Harrison,C., Carothers,A.D., Hardwick,L.J., Evans,H.J., Strain,L., Brock,D.J.H., Bundey,S., Jay,B., Bird,A.C., Bhattacharya,S.S. and Wright,A.F. (1994) Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Am. J. Hum. Genet., 55, 105-111.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 105-111
-
-
Teague, P.W.1
Aldred, M.A.2
Jay, M.3
Dempster, M.4
Harrison, C.5
Carothers, A.D.6
Hardwick, L.J.7
Evans, H.J.8
Strain, L.9
Brock, D.J.H.10
Bundey, S.11
Jay, B.12
Bird, A.C.13
Bhattacharya, S.S.14
Wright, A.F.15
-
11
-
-
0025190712
-
Localizing multiple X chromosome linked retinitis pigmentosa loci using multilocus homogeneity tests
-
Ott,J., Bhattacharya,S., Chen,J.D., Denton,M.J., Donald,J., Dubay,C., Farrar,G.J., Fishman,G.A., Frey,D., Gal,A., Humphries,P, Jay,B., Jay,M., Litt,M., Mächler,M., Musarella,M., Neugebauer,M., Nussbaum,R.L., Terwilliger,J.D., Weleber,R.G., Wirth,B., Wong,F., Worton,R.G. and Wright,A.F. (1990) Localizing multiple X chromosome linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc. Natl Acad. Sci. USA, 87, 701-704.
-
(1990)
Proc. Natl Acad. Sci. USA
, vol.87
, pp. 701-704
-
-
Ott, J.1
Bhattacharya, S.2
Chen, J.D.3
Denton, M.J.4
Donald, J.5
Dubay, C.6
Farrar, G.J.7
Fishman, G.A.8
Frey, D.9
Gal, A.10
Humphries, P.11
Jay, B.12
Jay, M.13
Litt, M.14
Mächler, M.15
Musarella, M.16
Neugebauer, M.17
Nussbaum, R.L.18
Terwilliger, J.D.19
Weleber, R.G.20
Wirth, B.21
Wong, F.22
Worton, R.G.23
Wright, A.F.24
more..
-
12
-
-
0021839541
-
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa and McLeod syndrome
-
Francke,U., Ochs,H.D., de Martinville,B., Giacalone,J., Lindgren,V., Disteche,C., Pagon,R.A., Hofker,M.H., van Ommen,G.J.B., Pearson,P.L. and Wedgwood,R.J. (1985) Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa and McLeod syndrome. Am. J. Hum. Genet., 37, 250-267.
-
(1985)
Am. J. Hum. Genet.
, vol.37
, pp. 250-267
-
-
Francke, U.1
Ochs, H.D.2
De Martinville, B.3
Giacalone, J.4
Lindgren, V.5
Disteche, C.6
Pagon, R.A.7
Hofker, M.H.8
Van Ommen, G.J.B.9
Pearson, P.L.10
Wedgwood, R.J.11
-
13
-
-
0023687829
-
Xp21 DNA microdeletion in a patient with chronic granulomalous disease, retinitis pigmentosa, and McLeod phenotype
-
de Saint-Basile,G., Bohler,M.C., Fischer,A., Cartron,J., Dufier,J.L., Griscelli,C. and Orkin,S.H. (1988) Xp21 DNA microdeletion in a patient with chronic granulomalous disease, retinitis pigmentosa, and McLeod phenotype. Hum. Genet., 80, 85-89.
-
(1988)
Hum. Genet.
, vol.80
, pp. 85-89
-
-
De Saint-Basile, G.1
Bohler, M.C.2
Fischer, A.3
Cartron, J.4
Dufier, J.L.5
Griscelli, C.6
Orkin, S.H.7
-
14
-
-
0028011872
-
Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex
-
Roux,A.-F., Rommens,J., McDowell,C., Anson-Cartwright,L., Bell,S., Schappert,K., Fishman,G.A. and Musarella,M. (1994) Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex. Hum. Mol. Genet., 3, 257-263.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 257-263
-
-
Roux, A.-F.1
Rommens, J.2
McDowell, C.3
Anson-Cartwright, L.4
Bell, S.5
Schappert, K.6
Fishman, G.A.7
Musarella, M.8
-
15
-
-
0027936475
-
Report of the fifth international workshop on human X chromosome mapping 1994
-
Willard,H.F., Cremers,F., Mandel,J.L., Monaco,A.P., Nelson,D.L. and Schlessinger,D. (1994) Report of the fifth international workshop on human X chromosome mapping 1994. Cytogenet. Cell Genet., 67, 295-358.
-
(1994)
Cytogenet. Cell Genet.
, vol.67
, pp. 295-358
-
-
Willard, H.F.1
Cremers, F.2
Mandel, J.L.3
Monaco, A.P.4
Nelson, D.L.5
Schlessinger, D.6
-
16
-
-
0028886728
-
A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa
-
Meindl,A., Carvalho,M.R.S., Herrmann,K., Lorenz,B., Achatz,H., Apfelstedt-Sylla,E., Wittwer,B., Ross,M. and Meitinger,T. (1995) A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa. Hum. Mol. Genet., 4, 2339-2346.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 2339-2346
-
-
Meindl, A.1
Carvalho, M.R.S.2
Herrmann, K.3
Lorenz, B.4
Achatz, H.5
Apfelstedt-Sylla, E.6
Wittwer, B.7
Ross, M.8
Meitinger, T.9
-
17
-
-
0027468779
-
Cloning the differences between two complex genomes
-
Lisitsyn,N., Wigler,M. (1993) Cloning the differences between two complex genomes. Science, 259, 946-951.
-
(1993)
Science
, vol.259
, pp. 946-951
-
-
Lisitsyn, N.1
Wigler, M.2
-
18
-
-
0026675431
-
PCR amplification and analysis of yeast artificial chromosomes
-
Sutcliffe,J.S., Zhang,F., Caskey,C.T., Nelson,D.L. and Warren,S.T. (1992) PCR amplification and analysis of yeast artificial chromosomes. Genomics, 13, 1303-1306.
-
(1992)
Genomics
, vol.13
, pp. 1303-1306
-
-
Sutcliffe, J.S.1
Zhang, F.2
Caskey, C.T.3
Nelson, D.L.4
Warren, S.T.5
-
19
-
-
0028882909
-
Identification of a novel gene, ETX1, from Xp21.1, a candidate gene for X-linked retinitis pigmentosa (RP3)
-
Dry,K.L., Aldred,M.A., Edgar,A.J., Brown,J., Manson,F.D.C., Ho,M.-F., Prosser,J., Hardwick,L.J., Lennon,A.A., Thomson,K., van Keuren,M., Kurnit,D.M., Bird,A.C., Jay,M., Monaco,A.P. and Wright,A.F. (1995) Identification of a novel gene, ETX1, from Xp21.1, a candidate gene for X-linked retinitis pigmentosa (RP3). Hum. Mol Genet., 4, 2347-2353.
-
(1995)
Hum. Mol Genet.
, vol.4
, pp. 2347-2353
-
-
Dry, K.L.1
Aldred, M.A.2
Edgar, A.J.3
Brown, J.4
Manson, F.D.C.5
Ho, M.-F.6
Prosser, J.7
Hardwick, L.J.8
Lennon, A.A.9
Thomson, K.10
Van Keuren, M.11
Kurnit, D.M.12
Bird, A.C.13
Jay, M.14
Monaco, A.P.15
Wright, A.F.16
-
20
-
-
0028907339
-
Positional cloning moves from perditional to traditional
-
Collins,F.S. (1995) Positional cloning moves from perditional to traditional. Nature Genet., 9, 347-350.
-
(1995)
Nature Genet.
, vol.9
, pp. 347-350
-
-
Collins, F.S.1
-
21
-
-
0025279071
-
Rapid isolation of human chromosome-specific DNA probes from a somatic cell hybrid
-
Cotter,F.E., Hampton,G.M., Nasipuri,S., Bodmer,W.F. and Young,B.D. (1990) Rapid isolation of human chromosome-specific DNA probes from a somatic cell hybrid. Genomics, 7, 257-263.
-
(1990)
Genomics
, vol.7
, pp. 257-263
-
-
Cotter, F.E.1
Hampton, G.M.2
Nasipuri, S.3
Bodmer, W.F.4
Young, B.D.5
-
22
-
-
0025334285
-
Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction
-
Ledbetter,S.A., Nelson,D.L., Warren,S.T. and Ledbetter,D.H. (1990) Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction. Genomics, 6, 475-481.
-
(1990)
Genomics
, vol.6
, pp. 475-481
-
-
Ledbetter, S.A.1
Nelson, D.L.2
Warren, S.T.3
Ledbetter, D.H.4
-
23
-
-
1542471167
-
Alu polymerase chain reaction: A method for rapid isolation of human-specific sequences from complex DNA sources
-
Nelson,D.L., Ledbetter,S.A., Corbo,L., Victoria,M.F., Ramirez-Solis,R., Webster,T.D., Ledbetter,D.H. and Caskey,C.T. (1989) Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. Proc. Natl Acad. Sci. USA, 86, 6686-6690.
-
(1989)
Proc. Natl Acad. Sci. USA
, vol.86
, pp. 6686-6690
-
-
Nelson, D.L.1
Ledbetter, S.A.2
Corbo, L.3
Victoria, M.F.4
Ramirez-Solis, R.5
Webster, T.D.6
Ledbetter, D.H.7
Caskey, C.T.8
-
24
-
-
0027193630
-
The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
-
Sheffield,V.C., Beck,J.S., Kwitek,A.E., Sandstrom,D.W. and Stone,E.M. (1993) The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics, 16, 325-332.
-
(1993)
Genomics
, vol.16
, pp. 325-332
-
-
Sheffield, V.C.1
Beck, J.S.2
Kwitek, A.E.3
Sandstrom, D.W.4
Stone, E.M.5
-
25
-
-
0027275266
-
Cytoplasmic regulation of mRNA function: The importance of the 3′ untranslated region
-
Jackson,R.J. (1993) Cytoplasmic regulation of mRNA function: the importance of the 3′ untranslated region. Cell, 74, 9-14.
-
(1993)
Cell
, vol.74
, pp. 9-14
-
-
Jackson, R.J.1
-
26
-
-
0028210480
-
Position effect variegation and the new biology of heterochromatin
-
Karpen,G.H. (1994) Position effect variegation and the new biology of heterochromatin. Curr. Opin. Genet. & Dev., 4, 281-291.
-
(1994)
Curr. Opin. Genet. & Dev.
, vol.4
, pp. 281-291
-
-
Karpen, G.H.1
-
27
-
-
0025016822
-
Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction
-
Green,E.D., Olson,M.V. (1990) Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. Proc. Natl Acad. Sci. USA, 87, 1213-1217.
-
(1990)
Proc. Natl Acad. Sci. USA
, vol.87
, pp. 1213-1217
-
-
Green, E.D.1
Olson, M.V.2
-
29
-
-
0020793569
-
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
-
Feinberg,A.R., Vogelstein,B. (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem., 132, 6-13.
-
(1983)
Anal. Biochem.
, vol.132
, pp. 6-13
-
-
Feinberg, A.R.1
Vogelstein, B.2
-
30
-
-
0021381028
-
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
-
Feinberg,A.P., Vogelstein,B. (1984) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Addendun. Anal. Biochem., 137, 266-267.
-
(1984)
Addendun. Anal. Biochem.
, vol.137
, pp. 266-267
-
-
Feinberg, A.P.1
Vogelstein, B.2
-
31
-
-
0024369741
-
High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization
-
Blonden,L.A., den Dunnen,J.T., van Paassen,H.M., Wapenaar,M.C., Grootscholten,P.M., Ginjaar,H.B., Bakker,E., Pearson,P.L. and van Ommen,G.J. (1989) High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization. Nucleic Acids Res., 17, 5611-21:
-
(1989)
Nucleic Acids Res.
, vol.17
, pp. 5611-5621
-
-
Blonden, L.A.1
Den Dunnen, J.T.2
Van Paassen, H.M.3
Wapenaar, M.C.4
Grootscholten, P.M.5
Ginjaar, H.B.6
Bakker, E.7
Pearson, P.L.8
Van Ommen, G.J.9
-
32
-
-
0026878927
-
Isolation of a candidate gene for Nome disease by positional cloning
-
Berger,W., Meindl,A., van de Pol,T.J.R., Cremers,F.P.M., Ropers,H.H., Dörner,C., Monaco,A., Bergen,A.A.B., Lebo,R., Warburg,M., Zergollern,L., Lorenz,B., Gal,A., Bleeker-Wagemakers,E.M. and Meitinger,T. (1992) Isolation of a candidate gene for Nome disease by positional cloning. Nature Genet., 1, 199-203.
-
(1992)
Nature Genet.
, vol.1
, pp. 199-203
-
-
Berger, W.1
Meindl, A.2
Van De Pol, T.J.R.3
Cremers, F.P.M.4
Ropers, H.H.5
Dörner, C.6
Monaco, A.7
Bergen, A.A.B.8
Lebo, R.9
Warburg, M.10
Zergollern, L.11
Lorenz, B.12
Gal, A.13
Bleeker-Wagemakers, E.M.14
Meitinger, T.15
-
33
-
-
0027345964
-
Cosmid sequencing
-
Craxton,M. (1993) Cosmid sequencing. Methods Mol. Biol., 23, 149-167.
-
(1993)
Methods Mol. Biol.
, vol.23
, pp. 149-167
-
-
Craxton, M.1
-
34
-
-
0025776579
-
A sequence assembly and editing program for efficient management of large projects
-
Dear,S., Staden,R. (1991) A sequence assembly and editing program for efficient management of large projects. Nucleic Acids Res., 19, 3907-3911.
-
(1991)
Nucleic Acids Res.
, vol.19
, pp. 3907-3911
-
-
Dear, S.1
Staden, R.2
-
35
-
-
0025183708
-
Basic local alignment search tool
-
Altschul,S.F., Gish,W., Miller,W., Myers,E.W. and Lipman,D.J. (1990) Basic local alignment search tool. J. Mol. Biol., 215, 403-410.
-
(1990)
J. Mol. Biol.
, vol.215
, pp. 403-410
-
-
Altschul, S.F.1
Gish, W.2
Miller, W.3
Myers, E.W.4
Lipman, D.J.5
-
36
-
-
0023989064
-
Improved tools for biological sequence comparison
-
Pearson,W.R., Lipman,D.J. (1988) Improved tools for biological sequence comparison. Proc. Natl Acad. Sci. USA, 85, 2444-2448.
-
(1988)
Proc. Natl Acad. Sci. USA
, vol.85
, pp. 2444-2448
-
-
Pearson, W.R.1
Lipman, D.J.2
-
37
-
-
0026351408
-
Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach
-
Uberbacher,E.C., Mural,R.J. (1991) Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Natl Acad. Sci. USA, 88, 11261-11265.
-
(1991)
Proc. Natl Acad. Sci. USA
, vol.88
, pp. 11261-11265
-
-
Uberbacher, E.C.1
Mural, R.J.2
-
38
-
-
77957187566
-
A probabilistic model for detecting coding regions in DNA sequences
-
Thomas,A., Skolnick,M.H. (1994) A probabilistic model for detecting coding regions in DNA sequences. IMA J. Math. Appl. Med. Biol., 11, 149-60:
-
(1994)
IMA J. Math. Appl. Med. Biol.
, vol.11
, pp. 149-160
-
-
Thomas, A.1
Skolnick, M.H.2
-
39
-
-
0028304908
-
On global sequence alignment
-
Huang,X. (1994) On global sequence alignment. Comput. Appl. Biosci., 10, 227-235.
-
(1994)
Comput. Appl. Biosci.
, vol.10
, pp. 227-235
-
-
Huang, X.1
-
40
-
-
0026938038
-
Mutations in the candidate gene for Norrie disease
-
Berger,W., van de Pol,D., Warburg,M., Gal,A., Bleeker-Wagemakers,L., de Silva,H., Meindl,A., Meitinger,T., Cremers,F. and Ropers,H.H. (1992) Mutations in the candidate gene for Norrie disease. Hum. Mol. Genet., 1, 461-465.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 461-465
-
-
Berger, W.1
Van De Pol, D.2
Warburg, M.3
Gal, A.4
Bleeker-Wagemakers, L.5
De Silva, H.6
Meindl, A.7
Meitinger, T.8
Cremers, F.9
Ropers, H.H.10
|