-
1
-
-
33645808262
-
A large deletion in the adRP gene PRPF31: Evidence that haploinsufficiency is the cause of disease
-
Abu-Safieh L, Vithana EN, Mantel I et al (2006) A large deletion in the adRP gene PRPF31: Evidence that haploinsufficiency is the cause of disease. Mol Vis 12:384-388
-
(2006)
Mol Vis
, vol.12
, pp. 384-388
-
-
Abu-Safieh, L.1
Vithana, E.N.2
Mantel, I.3
-
2
-
-
0028123295
-
Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19
-
Al-Maghtheh M, Inglehearn CF, Keen TJ et al (1994) Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet 3:351-354 (Pubitemid 24060956)
-
(1994)
Human Molecular Genetics
, vol.3
, Issue.2
, pp. 351-354
-
-
Al-Maghtheh, M.1
Inglehearn, C.F.2
Keen, T.J.3
Evans, K.4
Moore, A.T.5
Jay, M.6
Bird, A.C.7
Bhattacharya, S.S.8
-
3
-
-
0035125246
-
Ocular phenotype of Bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene
-
Burstedt MSI, Forsman-Semb K, Golovleva I et al (2001) Ocular phenotype of Bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an P.R234Wmutation in the RLBP1 gene. Arch Ophthalmol 119:260-267 (Pubitemid 32147935)
-
(2001)
Archives of Ophthalmology
, vol.119
, Issue.2
, pp. 260-267
-
-
Burstedt, M.S.I.1
Forsman-Semb, K.2
Golovleva, I.3
Janunger, T.4
Wachtmeister, L.5
Sandgren, O.6
-
5
-
-
34247145922
-
Homozygous deletion related to alu repeats in RLBP1 causes retinitis punctata albescens
-
DOI 10.1167/iovs.05-1488
-
Humbert G, Delettre C, Senechal A et al (2006) Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens. Invest Ophthalmol Vis Sci 47:4719-4724 (Pubitemid 46586367)
-
(2006)
Investigative Ophthalmology and Visual Science
, vol.47
, Issue.11
, pp. 4719-4724
-
-
Humbert, G.1
Delettre, C.2
Senechal, A.3
Bazalgette, C.4
Barakat, A.5
Bazalgette, C.6
Arnaud, B.7
Lenaers, G.8
Hamel, C.P.9
-
6
-
-
34249728994
-
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families
-
DOI 10.1038/sj.ejhg.5201817, PII 5201817
-
Köhn L, Kadzhaev K, Burstedt MSI et al (2007) Mutation in PYK2-binding domain of the PITPNM3 causes autosomal dominant cone dystrophy (CORD5). Eur J Hum Genet 15: 664-671 (Pubitemid 46825056)
-
(2007)
European Journal of Human Genetics
, vol.15
, Issue.6
, pp. 664-671
-
-
Kohn, L.1
Kadzhaev, K.2
Burstedt, M.S.I.3
Haraldsson, S.4
Hallberg, B.5
Sandgren, O.6
Golovleva, I.7
-
7
-
-
0036500141
-
Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing
-
DOI 10.1093/emboj/21.5.1148
-
Makarova OV, Makarov EM, Liu S et al (2002) Protein 61 K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing. EMBO J 21:1148-1157 (Pubitemid 34206188)
-
(2002)
EMBO Journal
, vol.21
, Issue.5
, pp. 1148-1157
-
-
Makarova, O.V.1
Makarov, E.M.2
Liu, S.3
Vornlocher, H.-P.4
Luhrmann, R.5
-
8
-
-
0242416957
-
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa
-
DOI 10.1167/iovs.02-0871
-
Martinez-Gimeno M, Gamundi MJ, Hernan I et al (2003) Mutations in the pre-mRNA splicingfactor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 44:2171-2177 (Pubitemid 36520314)
-
(2003)
Investigative Ophthalmology and Visual Science
, vol.44
, Issue.5
, pp. 2171-2177
-
-
Martinez-Gimeno, M.1
Jose Gamundi, M.2
Hernan, I.3
Maseras, M.4
Milla, E.5
Ayuso, C.6
Garcia-Sandoval, B.7
Beneyto, M.8
Vilela, C.9
Baiget, M.10
Antinolo, G.11
Carballo, M.12
-
9
-
-
0030810721
-
Minisequencing: A specific tool for DNA analysis and diagnostics on oligonucleotide arrays
-
Pastinen T, Kurg A, Metspalu A et al (1997) Minisequencing: A specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Res 7:606-614 (Pubitemid 27313609)
-
(1997)
Genome Research
, vol.7
, Issue.6
, pp. 606-614
-
-
Pastinen, T.1
Kurg, A.2
Metspalu, A.3
Peltonen, L.4
Syvanen, A.-C.5
-
10
-
-
2342584657
-
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa
-
DOI 10.1073/pnas.0401529101
-
Rebello G, Ramesar R, Vorster A et al (2004) Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. Proc Natl Acad Sci USA 101:6617-6622 (Pubitemid 38586023)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.17
, pp. 6617-6622
-
-
Rebello, G.1
Ramesar, R.2
Vorster, A.3
Roberts, L.4
Ehrenreich, L.5
Oppon, E.6
Gama, D.7
Bardien, S.8
Greenberg, J.9
Bonapace, G.10
Waheed, A.11
Shah, G.N.12
Sly, W.S.13
-
11
-
-
24044481705
-
Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa
-
DOI 10.1016/j.ajo.2005.02.050, PII S0002939405002734
-
Sato H, Wada Y, Itabashi T, Nakamura M, Kawamura M, Tamai M (2005) Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa. Am J Ophthalmol 140:537-540 (Pubitemid 41224854)
-
(2005)
American Journal of Ophthalmology
, vol.140
, Issue.3
, pp. 537-540
-
-
Sato, H.1
Wada, Y.2
Itabashi, T.3
Nakamura, M.4
Kawamura, M.5
Tamai, M.6
-
12
-
-
33750593210
-
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa
-
DOI 10.1167/iovs.06-0440
-
Sullivan LS, Bowne SJ, Seaman CR et al (2006) Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 47:4579-4588 (Pubitemid 46579388)
-
(2006)
Investigative Ophthalmology and Visual Science
, vol.47
, Issue.10
, pp. 4579-4588
-
-
Sullivan, L.S.1
Bowne, S.J.2
Seaman, C.R.3
Blanton, S.H.4
Lewis, R.A.5
Heckenlively, J.R.6
Birch, D.G.7
Hughbanks-Wheaton, D.8
Daiger, S.P.9
-
13
-
-
17944379537
-
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)
-
DOI 10.1016/S1097-2765(01)00305-7
-
Vithana EN, Abu-Safieh L, Allen MJ et al (2001) A human homolog of yeast pre-mRNA splicing gene, PRPF31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell 8:375-381 (Pubitemid 32831554)
-
(2001)
Molecular Cell
, vol.8
, Issue.2
, pp. 375-381
-
-
Vithana, E.N.1
Abu-Safieh, L.2
Allen, M.J.3
Carey, A.4
Papaioannou, M.5
Chakarova, C.6
Al-Maghtheh, M.7
Ebenezer, N.D.8
Willis, C.9
Moore, A.T.10
Bird, A.C.11
Hunt, D.M.12
Bhattacharya, S.S.13
-
14
-
-
19944432817
-
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration
-
Yang Z, Alvarez BV, Chakarova C et al (2005) Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. Hum Mol Genet 14:255-265
-
(2005)
Hum Mol Genet
, vol.14
, pp. 255-265
-
-
Yang, Z.1
Alvarez, B.V.2
Chakarova, C.3
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