-
1
-
-
0021344697
-
Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28
-
Bhattacharya, S.S. et al. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature 309, 253-255 (1984).
-
(1984)
Nature
, vol.309
, pp. 253-255
-
-
Bhattacharya, S.S.1
-
2
-
-
0023993092
-
Two different genes for X-linked retinitis pigmentosa
-
Wirth, B. et al. Two different genes for X-linked retinitis pigmentosa. Genomics 2, 263-266 (1988).
-
(1988)
Genomics
, vol.2
, pp. 263-266
-
-
Wirth, B.1
-
3
-
-
0025190712
-
Localizing multiple X chromosome linked retinitis pigmentosa loci using multilocus homogeneity tests
-
Ott, J. et al. Localizing multiple X chromosome linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc. Natl Acad. Sci. USA 87, 701-704 (1990).
-
(1990)
Proc. Natl Acad. Sci. USA
, vol.87
, pp. 701-704
-
-
Ott, J.1
-
4
-
-
0027998708
-
Heterogeneity analysis in 40 X-linked retinitis pigmentosa families
-
Teague, P.W. Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Am. J. Hum. Genet. 55, 105-111 (1994).
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 105-111
-
-
Teague, P.W.1
-
5
-
-
15844378213
-
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
-
Meindl, A. et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nature Genet. 13, 36-42 (1996).
-
(1996)
Nature Genet.
, vol.13
, pp. 36-42
-
-
Meindl, A.1
-
6
-
-
8944241311
-
Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1
-
Roepman, R. et al. Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum. Mol. Genet. 5, 1035-1041 (1996).
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1035-1041
-
-
Roepman, R.1
-
7
-
-
17344363773
-
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa
-
Buraczynska, M. et al. Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. Am. J. Hum. Genet. 61, 1287-1292 (1997).
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 1287-1292
-
-
Buraczynska, M.1
-
8
-
-
0029841724
-
Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: A genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping
-
Thiselton, D.L. et al. Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping. Genome Res. 6, 1093-1102 (1996).
-
(1996)
Genome Res.
, vol.6
, pp. 1093-1102
-
-
Thiselton, D.L.1
-
9
-
-
15844362841
-
Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP)
-
Roepman, R. et al. Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP). Hum. Molec. Genet. 5, 827-833 (1996).
-
(1996)
Hum. Molec. Genet.
, vol.5
, pp. 827-833
-
-
Roepman, R.1
-
10
-
-
0030602820
-
Pathway leading to correctly folded β-tubulin
-
Tian, G. et al. Pathway leading to correctly folded β-tubulin. Cell 86, 287-296 (1996).
-
(1996)
Cell
, vol.86
, pp. 287-296
-
-
Tian, G.1
-
11
-
-
17344370076
-
The impact of L1 retrotransposons on the human genome
-
Kazazian, H.H. & Moran, J.V.J. The impact of L1 retrotransposons on the human genome. Nature Genet. 19, 19-24 (1998).
-
(1998)
Nature Genet.
, vol.19
, pp. 19-24
-
-
Kazazian, H.H.1
Moran, J.V.J.2
-
12
-
-
0021927232
-
Insertion of long interspersed repeated elements at the lgh (immunoglobulin heavy chain) and Mlvi-2 (Moloney leukemia virus integration 2) loci of rat
-
Economou-Pachnis, A., Lohse, M.A., Furano, A.V. & Tsichlis, P.N. Insertion of long interspersed repeated elements at the lgh (immunoglobulin heavy chain) and Mlvi-2 (Moloney leukemia virus integration 2) loci of rat. Proc. Natl Acad. Sci. USA 9, 2857-2861 (1985).
-
(1985)
Proc. Natl Acad. Sci. USA
, vol.9
, pp. 2857-2861
-
-
Economou-Pachnis, A.1
Lohse, M.A.2
Furano, A.V.3
Tsichlis, P.N.4
-
13
-
-
0025353347
-
Empty and occupied insertion site of the truncated LINE-1 repeat located in the mouse serum albumin-encoding gene
-
Boccaccio, C., Deschatrette, J. & Meunier-Rotival, M. Empty and occupied insertion site of the truncated LINE-1 repeat located in the mouse serum albumin-encoding gene. Gene 88, 181-186 (1990).
-
(1990)
Gene
, vol.88
, pp. 181-186
-
-
Boccaccio, C.1
Deschatrette, J.2
Meunier-Rotival, M.3
-
14
-
-
0030281689
-
A major polymorphism in the rat SA gene caused by the insertion of a LINE element
-
Frantz, S.A., Thiara, A.S., Lodwick, D. & Samani, N.J. A major polymorphism in the rat SA gene caused by the insertion of a LINE element. Mamm. Genome 7, 865-866 (1996).
-
(1996)
Mamm. Genome
, vol.7
, pp. 865-866
-
-
Frantz, S.A.1
Thiara, A.S.2
Lodwick, D.3
Samani, N.J.4
-
15
-
-
0023867459
-
Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man
-
Kazazian, H.H. et al. Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature 332, 164-166 (1988).
-
(1988)
Nature
, vol.332
, pp. 164-166
-
-
Kazazian, H.H.1
-
16
-
-
0026503996
-
Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer
-
Miki, Y. et al. Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer. Cancer Res. 52, 643-645 (1992).
-
(1992)
Cancer Res.
, vol.52
, pp. 643-645
-
-
Miki, Y.1
-
17
-
-
0027258342
-
Insertion of a 5′ truncated L1 element into the 3′ end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy
-
Narita, N. et al. Insertion of a 5′ truncated L1 element into the 3′ end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy. J. Clin. Invest. 91, 1862-1867 (1993).
-
(1993)
J. Clin. Invest.
, vol.91
, pp. 1862-1867
-
-
Narita, N.1
-
18
-
-
0027996651
-
The spastic mouse: Aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element
-
Mulhardt, C. et al. The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element. Neuron 13, 1003-1015 (1994).
-
(1994)
Neuron
, vol.13
, pp. 1003-1015
-
-
Mulhardt, C.1
-
19
-
-
8944258929
-
Dysfunction of the Orleans reeler gene arising from exon skipping due to transposition of a full-length copy of an active L1 sequence into the skipped exon
-
Takahara, T. et al. Dysfunction of the Orleans reeler gene arising from exon skipping due to transposition of a full-length copy of an active L1 sequence into the skipped exon. Hum. Molec. Genet. 5, 989-993 (1996).
-
(1996)
Hum. Molec. Genet.
, vol.5
, pp. 989-993
-
-
Takahara, T.1
-
20
-
-
8944248275
-
Identification of the murine beige gene by YAC complementation and positional cloning
-
Perou, C.M. et al. Identification of the murine beige gene by YAC complementation and positional cloning. Nature Genet. 13, 303-308 (1996).
-
(1996)
Nature Genet.
, vol.13
, pp. 303-308
-
-
Perou, C.M.1
-
21
-
-
0025064847
-
Cloning of a gene that is rearranged in patients with choroideremia
-
Cremers, F.P.M., van de Pol, D.J.R., van Kerkhoff, L.P.M., Wieringa, B. & Ropers, H.H. Cloning of a gene that is rearranged in patients with choroideremia. Nature 347, 674-677 (1990).
-
(1990)
Nature
, vol.347
, pp. 674-677
-
-
Cremers, F.P.M.1
Van De Pol, D.J.R.2
Van Kerkhoff, L.P.M.3
Wieringa, B.4
Ropers, H.H.5
-
22
-
-
0029041327
-
Cytoplasmic mRNA-protein interactions in eukaryotic gene expression
-
McCarthy, J.E.G. & Kollmus, H. Cytoplasmic mRNA-protein interactions in eukaryotic gene expression. Trends Biochem. Sci. 20, 191-197 (1995).
-
(1995)
Trends Biochem. Sci.
, vol.20
, pp. 191-197
-
-
McCarthy, J.E.G.1
Kollmus, H.2
-
23
-
-
0029988881
-
Control of messenger RNA stability in higher eukaryotes
-
Ross, J. Control of messenger RNA stability in higher eukaryotes. Trends Genet. 12, 171-175 (1996).
-
(1996)
Trends Genet.
, vol.12
, pp. 171-175
-
-
Ross, J.1
-
24
-
-
0024365446
-
Localization of actin and tubulin in dveloping and adult mammalian photoreceptors
-
Woodford, B.J. & Blanks, J.C. Localization of actin and tubulin in dveloping and adult mammalian photoreceptors. Cell & Tissue Res. 256, 495-505 (1989).
-
(1989)
Cell & Tissue Res.
, vol.256
, pp. 495-505
-
-
Woodford, B.J.1
Blanks, J.C.2
-
25
-
-
0026018527
-
Formation of the retinal ganglion cell and optic fiber layers
-
Watanabe, M., Rutishauser, U. & Silver, J. Formation of the retinal ganglion cell and optic fiber layers. J. Neurobiol. 22, 85-96 (1991).
-
(1991)
J. Neurobiol.
, vol.22
, pp. 85-96
-
-
Watanabe, M.1
Rutishauser, U.2
Silver, J.3
-
26
-
-
0023931830
-
Distribution of acetylated alpha-tubulin in retina and in vitro-assembled microtubules
-
Sale, W.S., Besharse, J.C. & Piperno, G. Distribution of acetylated alpha-tubulin in retina and in vitro-assembled microtubules. Cell Motil. Cytoskeleton 9, 243-253 (1988).
-
(1988)
Cell Motil. Cytoskeleton
, vol.9
, pp. 243-253
-
-
Sale, W.S.1
Besharse, J.C.2
Piperno, G.3
-
27
-
-
0028790270
-
Changes in the organization and expression of cytoskeletal proteins during retinal degeneration induced by retinal detachment
-
Lewis, G.P., Matsumoto, B. & Fisher, S.K. Changes in the organization and expression of cytoskeletal proteins during retinal degeneration induced by retinal detachment. Invest. Ophthalmol. Vis. Sci. 36, 2404-2416 (1995).
-
(1995)
Invest. Ophthalmol. Vis. Sci.
, vol.36
, pp. 2404-2416
-
-
Lewis, G.P.1
Matsumoto, B.2
Fisher, S.K.3
-
28
-
-
0027285879
-
Gamma-tubulin in differentiated cell types: Localization in the vicinity of basal bodies in retinal photoreceptors and ciliated epithelia
-
Muresan, V., Joshi, H.C. & Besharse, J.C. Gamma-tubulin in differentiated cell types: localization in the vicinity of basal bodies in retinal photoreceptors and ciliated epithelia. J. Cell Sci. 104, 1229-1237 (1993).
-
(1993)
J. Cell Sci.
, vol.104
, pp. 1229-1237
-
-
Muresan, V.1
Joshi, H.C.2
Besharse, J.C.3
-
29
-
-
0028236066
-
1.8-Mb YAC contig inXp11.23: Identification of CpG islands and physical mapping of CA repeats in a region of high gene density
-
Coleman, M.P. et al. 1.8-Mb YAC contig inXp11.23: identification of CpG islands and physical mapping of CA repeats in a region of high gene density. Genomics 21, 337-343 (1994).
-
(1994)
Genomics
, vol.21
, pp. 337-343
-
-
Coleman, M.P.1
-
30
-
-
0028304894
-
Physical mapping in a YAC contig of 11 markers on the human X chromosome in Xp11.23
-
Hagemann, T. et al. Physical mapping in a YAC contig of 11 markers on the human X chromosome in Xp11.23. Genomics 21, 262-265 (1994).
-
(1994)
Genomics
, vol.21
, pp. 262-265
-
-
Hagemann, T.1
-
31
-
-
0024431684
-
In vivo footprinting of a muscle specific enhancer by ligation mediated PCR
-
Mueller, P.R. & Wold, B. In vivo footprinting of a muscle specific enhancer by ligation mediated PCR. Science 246, 780-786 (1989).
-
(1989)
Science
, vol.246
, pp. 780-786
-
-
Mueller, P.R.1
Wold, B.2
-
32
-
-
0023011594
-
The abundant LINE-1 family of repeated DNA sequences in mammals: Genes and pseudogenes
-
Skowronski, J. & Singer, M.F. The abundant LINE-1 family of repeated DNA sequences in mammals: genes and pseudogenes. Cold Spring Harb. Symp. Quant. Biol. LI, 457-464 (1986).
-
(1986)
Cold Spring Harb. Symp. Quant. Biol.
, vol.LI
, pp. 457-464
-
-
Skowronski, J.1
Singer, M.F.2
-
33
-
-
0028938413
-
An improved PCR method for walking in uncloned genomic DNA
-
Siebert, P.D., Chenchik, A., Kellogg, D.E., Lukyanov, K.A. & Lukyanov, S.A. An improved PCR method for walking in uncloned genomic DNA. Nucleic Acids Res. 23, 1087-1088 (1995).
-
(1995)
Nucleic Acids Res.
, vol.23
, pp. 1087-1088
-
-
Siebert, P.D.1
Chenchik, A.2
Kellogg, D.E.3
Lukyanov, K.A.4
Lukyanov, S.A.5
-
34
-
-
0026878927
-
Isolation of a candidate gene for Norrie disease by positional cloning
-
Berger, W. et al. Isolation of a candidate gene for Norrie disease by positional cloning. Nature Genet. 1, 199-203 (1992).
-
(1992)
Nature Genet.
, vol.1
, pp. 199-203
-
-
Berger, W.1
-
35
-
-
0030747962
-
Direct hybridization of large-insert genomic clones on high-density gridded cDNA filter arrays
-
Ishihara, A., Gee, K., Schwartz, S., Jacobson, K. & Lee, J. Direct hybridization of large-insert genomic clones on high-density gridded cDNA filter arrays. Biotechniques 23, 120-124 (1997).
-
(1997)
Biotechniques
, vol.23
, pp. 120-124
-
-
Ishihara, A.1
Gee, K.2
Schwartz, S.3
Jacobson, K.4
Lee, J.5
-
36
-
-
0029939301
-
Allele-specific in situ hybridization (ASISH) analysis: A novel technique which resolves differential allelic usage of H19 within the same cell lineage during human placental development
-
Adam, G., Miller, S., Flam, F. & Ohlsson, R. Allele-specific in situ hybridization (ASISH) analysis: a novel technique which resolves differential allelic usage of H19 within the same cell lineage during human placental development. Development 122, 839-847 (1996).
-
(1996)
Development
, vol.122
, pp. 839-847
-
-
Adam, G.1
Miller, S.2
Flam, F.3
Ohlsson, R.4
|