-
1
-
-
33846957381
-
Perspective on genes and mutations causing retinitis pigmentosa
-
Daiger SP, Bowne SJ, Sullivan LS. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 2007: 125: 151-158.
-
(2007)
Arch Ophthalmol
, vol.125
, pp. 151-158
-
-
Daiger, S.P.1
Bowne, S.J.2
Sullivan, L.S.3
-
2
-
-
0036482801
-
Epidemiology of retinitis pigmentosa in Denmark
-
Haim M. Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl 2002: 233: 1-34.
-
(2002)
Acta Ophthalmol Scand Suppl
, vol.233
, pp. 1-34
-
-
Haim, M.1
-
5
-
-
84880154851
-
-
RetNet. The Retinal Information Network 2013. Retrieved from Accessed on May
-
RetNet. The Retinal Information Network 2013. Retrieved from http://www.sph.uth.tmc.edu/RetNet/. Accessed on May 2013.
-
(2013)
-
-
-
6
-
-
84880143204
-
-
HGMD. Human Gene Mutation Database (Biobase Biological Databases) 2013. Retrieved from Accessed on May
-
HGMD. Human Gene Mutation Database (Biobase Biological Databases) 2013. Retrieved from http://www.hgmd.cf.ac.uk/. Accessed on May 2013.
-
(2013)
-
-
-
8
-
-
79954997174
-
LOVD v.2.0: the next generation in gene variant databases
-
Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat 2011: 32: 557-563.
-
(2011)
Hum Mutat
, vol.32
, pp. 557-563
-
-
Fokkema, I.F.1
Taschner, P.E.2
Schaafsma, G.C.3
Celli, J.4
Laros, J.F.5
den Dunnen, J.T.6
-
9
-
-
80053050730
-
A dominant-acting mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement
-
Bowne SJ, Humphries MM, Sullivan LS et al. A dominant-acting mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Euro J Hum Genet 2011: 10: 1074-1081.
-
(2011)
Euro J Hum Genet
, vol.10
, pp. 1074-1081
-
-
Bowne, S.J.1
Humphries, M.M.2
Sullivan, L.S.3
-
10
-
-
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: 1302-1307.
-
(1990)
N Engl J Med
, vol.323
, pp. 1302-1307
-
-
Dryja, T.P.1
McGee, T.L.2
Hahn, L.B.3
-
11
-
-
0031252434
-
Mutations in RPE65 cause Leber's congenital amaurosis
-
Marlhens F, Bareil C, Griffoin JM et al. Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet 1997: 17: 139-141.
-
(1997)
Nat Genet
, vol.17
, pp. 139-141
-
-
Marlhens, F.1
Bareil, C.2
Griffoin, J.M.3
-
12
-
-
0032539851
-
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis
-
Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. Proc Natl Acad Sci USA 1998: 95: 3088-3093.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 3088-3093
-
-
Morimura, H.1
Fishman, G.A.2
Grover, S.A.3
Fulton, A.B.4
Berson, E.L.5
Dryja, T.P.6
-
13
-
-
0026878962
-
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
-
Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet 1992: 1: 209-213.
-
(1992)
Nat Genet
, vol.1
, pp. 209-213
-
-
Rosenfeld, P.J.1
Cowley, G.S.2
McGee, T.L.3
Sandberg, M.A.4
Berson, E.L.5
Dryja, T.P.6
-
14
-
-
79960015633
-
CLRN1 mutations cause nonsyndromic retinitis pigmentosa
-
Khan MI, Kersten FF, Azam M et al. CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology 2011: 118: 1444-1448.
-
(2011)
Ophthalmology
, vol.118
, pp. 1444-1448
-
-
Khan, M.I.1
Kersten, F.F.2
Azam, M.3
-
15
-
-
0033927821
-
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss
-
Rivolta C, Sweklo EA, Berson EL, Dryja TP. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet 2000: 66: 1975-1198.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1975-1198
-
-
Rivolta, C.1
Sweklo, E.A.2
Berson, E.L.3
Dryja, T.P.4
-
16
-
-
0030731399
-
Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele
-
McGee TL, Devoto M, Ott J, Berson EL, Dryja TP. Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. Am J Hum Genet 1997: 61: 1059-1066.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1059-1066
-
-
McGee, T.L.1
Devoto, M.2
Ott, J.3
Berson, E.L.4
Dryja, T.P.5
-
17
-
-
33750593210
-
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa
-
Sullivan LS, Bowne SJ, Seaman CR et al. Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2006: 47: 4579-4588.
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 4579-4588
-
-
Sullivan, L.S.1
Bowne, S.J.2
Seaman, C.R.3
-
18
-
-
0030930234
-
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene
-
Felbor U, Schilling H, Weber BH. Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Hum Mutat 1997: 10: 301-309.
-
(1997)
Hum Mutat
, vol.10
, pp. 301-309
-
-
Felbor, U.1
Schilling, H.2
Weber, B.H.3
-
19
-
-
0034766872
-
Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina
-
Sears JE, Aaberg TA Sr, Daiger SP, Moshfeghi DM. Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina. Am J Ophthalmol 2001: 132: 693-699.
-
(2001)
Am J Ophthalmol
, vol.132
, pp. 693-699
-
-
Sears, J.E.1
Aaberg Sr, T.A.2
Daiger, S.P.3
Moshfeghi, D.M.4
-
20
-
-
52949085789
-
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
-
Korn JM, Kuruvilla FG, McCarroll SA et al. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet 2008: 40: 1253-1260.
-
(2008)
Nat Genet
, vol.40
, pp. 1253-1260
-
-
Korn, J.M.1
Kuruvilla, F.G.2
McCarroll, S.A.3
-
21
-
-
79551602226
-
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
-
Chakarova CF, Khanna H, Shah AZ et al. TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein. Hum Mol Genet 2011: 20: 975-987.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 975-987
-
-
Chakarova, C.F.1
Khanna, H.2
Shah, A.Z.3
-
22
-
-
66449117927
-
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa
-
Friedman JS, Ray JW, Waseem N et al. Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am J Hum Genet 2009: 84: 792-800.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 792-800
-
-
Friedman, J.S.1
Ray, J.W.2
Waseem, N.3
-
23
-
-
77956395486
-
A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa
-
Li L, Nakaya N, Chavali VR et al. A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. Am J Hum Genet 2010: 87: 400-409.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 400-409
-
-
Li, L.1
Nakaya, N.2
Chavali, V.R.3
-
24
-
-
77950861717
-
A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p
-
Naz S, Riazuddin SA, Li L et al. A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p. Am J Ophthalmol 2010: 149: 861-866.
-
(2010)
Am J Ophthalmol
, vol.149
, pp. 861-866
-
-
Naz, S.1
Riazuddin, S.A.2
Li, L.3
-
25
-
-
71849087061
-
Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs
-
Zhao C, Bellur DL, Lu S et al. Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. Am J Hum Genet 2009: 85: 617-627.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 617-627
-
-
Zhao, C.1
Bellur, D.L.2
Lu, S.3
-
26
-
-
84855931062
-
The power of homozygosity mapping: discovery of new genetic defects in patients with retinal dystrophy
-
Littink KW, den Hollander AI, Cremers FP, Collin RW. The power of homozygosity mapping: discovery of new genetic defects in patients with retinal dystrophy. Adv Exp Med Biol 2012: 723: 345-351.
-
(2012)
Adv Exp Med Biol
, vol.723
, pp. 345-351
-
-
Littink, K.W.1
den Hollander, A.I.2
Cremers, F.P.3
Collin, R.W.4
-
27
-
-
79851508986
-
A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews
-
Zelinger L, Banin E, Obolensky A et al. A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. Am J Hum Genet 2011: 88: 207-215.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 207-215
-
-
Zelinger, L.1
Banin, E.2
Obolensky, A.3
-
28
-
-
77956393918
-
Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa
-
Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Farhy C et al. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. Am J Hum Genet 2010: 87: 382-391.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 382-391
-
-
Bandah-Rozenfeld, D.1
Mizrahi-Meissonnier, L.2
Farhy, C.3
-
29
-
-
77955581331
-
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa
-
Bandah-Rozenfeld D, Collin RW, Banin E et al. Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet 2010: 87: 199-208.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 199-208
-
-
Bandah-Rozenfeld, D.1
Collin, R.W.2
Banin, E.3
-
30
-
-
77955575605
-
Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase
-
Dvir L, Srour G, Abu-Ras R, Miller B, Shalev SA, Ben-Yosef T. Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. Am J Hum Genet 2010: 87: 258-264.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 258-264
-
-
Dvir, L.1
Srour, G.2
Abu-Ras, R.3
Miller, B.4
Shalev, S.A.5
Ben-Yosef, T.6
-
31
-
-
64049104423
-
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa
-
den Hollander AI, McGee TL, Ziviello C et al. A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 2009: 50: 1864-1872.
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, pp. 1864-1872
-
-
den Hollander, A.I.1
McGee, T.L.2
Ziviello, C.3
-
32
-
-
1642618120
-
Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology
-
Kurg A, Tonisson N, Georgiou I, Shumaker J, Tollett J, Metspalu A. Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology. Genet Test 2000: 4: 1-7.
-
(2000)
Genet Test
, vol.4
, pp. 1-7
-
-
Kurg, A.1
Tonisson, N.2
Georgiou, I.3
Shumaker, J.4
Tollett, J.5
Metspalu, A.6
-
35
-
-
68249092574
-
Massively parallel sequencing: the next big thing in genetic medicine
-
Tucker T, Marra M, Friedman JM. Massively parallel sequencing: the next big thing in genetic medicine. Am J Hum Genet 2009: 85: 142-154.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 142-154
-
-
Tucker, T.1
Marra, M.2
Friedman, J.M.3
-
36
-
-
84864920004
-
Comparison of next-generation sequencing systems
-
Liu L, Li Y, Li S et al. Comparison of next-generation sequencing systems. J Biomed Biotechnol 2012: 2012: 251364.
-
(2012)
J Biomed Biotechnol
, vol.2012
, pp. 251364
-
-
Liu, L.1
Li, Y.2
Li, S.3
-
37
-
-
84865591846
-
A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers
-
Quail MA, Smith M, Coupland P et al. A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers. BMC genomics 2012: 13: 341.
-
(2012)
BMC genomics
, vol.13
, pp. 341
-
-
Quail, M.A.1
Smith, M.2
Coupland, P.3
-
38
-
-
80052143586
-
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa
-
Tucker BA, Scheetz TE, Mullins RF et al. Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Proc Natl Acad Sci USA 2011: 108: E569-E576.
-
(2011)
Proc Natl Acad Sci USA
, vol.108
-
-
Tucker, B.A.1
Scheetz, T.E.2
Mullins, R.F.3
-
39
-
-
79851509221
-
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa
-
Zuchner S, Dallman J, Wen R et al. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet 2011: 88: 201-206.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 201-206
-
-
Zuchner, S.1
Dallman, J.2
Wen, R.3
-
41
-
-
84875217898
-
Disease-targeted sequencing: a cornerstone in the clinic
-
Rehm HL. Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet 2013: 14: 295-300.
-
(2013)
Nat Rev Genet
, vol.14
, pp. 295-300
-
-
Rehm, H.L.1
-
42
-
-
84856092778
-
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
-
Audo I, Bujakowska KM, Leveillard T et al. Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis 2012: 7: 8.
-
(2012)
Orphanet J Rare Dis
, vol.7
, pp. 8
-
-
Audo, I.1
Bujakowska, K.M.2
Leveillard, T.3
-
43
-
-
84877638125
-
Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases
-
Chen X, Zhao K, Sheng X et al. Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases. Invest Ophthalmol Vis Sci 2013: 54: 2186-2197.
-
(2013)
Invest Ophthalmol Vis Sci
, vol.54
, pp. 2186-2197
-
-
Chen, X.1
Zhao, K.2
Sheng, X.3
-
44
-
-
84890791575
-
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
-
Epub ahead of print.
-
Glockle N, Kohl S, Mohr J et al. Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur J Hum Genet 2013. Epub ahead of print.
-
(2013)
Eur J Hum Genet
-
-
Glockle, N.1
Kohl, S.2
Mohr, J.3
-
45
-
-
84865170123
-
Next-generation genetic testing for retinitis pigmentosa
-
Neveling K, Collin RW, Gilissen C et al. Next-generation genetic testing for retinitis pigmentosa. Hum Mutat 2012: 33: 963-972.
-
(2012)
Hum Mutat
, vol.33
, pp. 963-972
-
-
Neveling, K.1
Collin, R.W.2
Gilissen, C.3
-
46
-
-
84864099628
-
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
-
O'Sullivan J, Mullaney BG, Bhaskar SS et al. A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. J Med Genet 2012: 49: 322-326.
-
(2012)
J Med Genet
, vol.49
, pp. 322-326
-
-
O'Sullivan, J.1
Mullaney, B.G.2
Bhaskar, S.S.3
-
47
-
-
84874108268
-
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
-
Shanks ME, Downes SM, Copley RR et al. Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. Eur J Hum Genet 2013: 21: 274-280.
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 274-280
-
-
Shanks, M.E.1
Downes, S.M.2
Copley, R.R.3
-
48
-
-
67349131580
-
Breakpoint characterization of a novel approximately 59kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance
-
Köhn L, Bowne SJ, Sullivan LS et al. Breakpoint characterization of a novel approximately 59kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance. Eur J Hum Genet 2009: 17: 651-655.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 651-655
-
-
Köhn, L.1
Bowne, S.J.2
Sullivan, L.S.3
-
49
-
-
80051618338
-
Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations
-
Fahim AT, Bowne SJ, Sullivan LS et al. Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. PLoS ONE 2011: 6: ie23021.
-
(2011)
PLoS ONE
, vol.6
-
-
Fahim, A.T.1
Bowne, S.J.2
Sullivan, L.S.3
-
50
-
-
84880165088
-
Application of whole-exome and retinal-capture next-generation DNA sequencing to identify disease-causing mutations in families with a diagnosis of autosomal dominant retinitis pigmentosa
-
E-Abstract, ARVO Annual Meeting.
-
Daiger SP, Sullivan LS, Bowne SJ et al. Application of whole-exome and retinal-capture next-generation DNA sequencing to identify disease-causing mutations in families with a diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2013 E-Abstract, ARVO Annual Meeting.
-
(2013)
Invest Ophthalmol Vis Sci
-
-
Daiger, S.P.1
Sullivan, L.S.2
Bowne, S.J.3
-
51
-
-
84873328062
-
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease
-
Branham K, Othman M, Brumm M et al. Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest Ophthalmol Vis Sci 2012: 53: 8232-8237.
-
(2012)
Invest Ophthalmol Vis Sci
, vol.53
, pp. 8232-8237
-
-
Branham, K.1
Othman, M.2
Brumm, M.3
-
52
-
-
0035162582
-
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies
-
Sohocki MM, Daiger SP, Bowne SJ et al. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat 2001: 17: 42-51.
-
(2001)
Hum Mutat
, vol.17
, pp. 42-51
-
-
Sohocki, M.M.1
Daiger, S.P.2
Bowne, S.J.3
-
53
-
-
84864609645
-
Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population
-
Nishiguchi KM, Rivolta C. Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population. PLoS ONE 2012: 7: e41902.
-
(2012)
PLoS ONE
, vol.7
-
-
Nishiguchi, K.M.1
Rivolta, C.2
-
54
-
-
0028245437
-
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
-
Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994: 264: 1604-1608.
-
(1994)
Science
, vol.264
, pp. 1604-1608
-
-
Kajiwara, K.1
Berson, E.L.2
Dryja, T.P.3
-
55
-
-
0035929273
-
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
-
Katsanis N, Ansley SJ, Badano JL et al. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 2001: 293: 2256-2259.
-
(2001)
Science
, vol.293
, pp. 2256-2259
-
-
Katsanis, N.1
Ansley, S.J.2
Badano, J.L.3
-
56
-
-
84874993295
-
Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa
-
Churchill JD, Bowne SJ, Sullivan LS et al. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2013: 54: 1411-1416.
-
(2013)
Invest Ophthalmol Vis Sci
, vol.54
, pp. 1411-1416
-
-
Churchill, J.D.1
Bowne, S.J.2
Sullivan, L.S.3
-
57
-
-
77951975201
-
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa
-
Riazuddin SA, Iqbal M, Wang Y et al. A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am J Hum Genet 2010: 86: 805-812.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 805-812
-
-
Riazuddin, S.A.1
Iqbal, M.2
Wang, Y.3
|