-
1
-
-
0004196290
-
Clinical ophthalmology: A systematic approach
-
London: Butterworth-Heinemann International Edition
-
Kanski JJ. Clinical ophthalmology: a systematic approach. In: Hereditary fundus dystrophies. 5th ed. London: Butterworth-Heinemann International Edition; 2003:491-4.
-
(2003)
Hereditary Fundus Dystrophies. 5th Ed.
, pp. 491-494
-
-
Kanski, J.J.1
-
2
-
-
0037095736
-
Retinitis pigmentosa and allied diseases: Numerous diseases, genes, and inheritance patterns
-
Rivolta C, Sharon D, DeAngelis MM, Dryja TP. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet 2002;11:1219-27.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1219-1227
-
-
Rivolta, C.1
Sharon, D.2
Deangelis, M.M.3
Dryja, T.P.4
-
3
-
-
2942685882
-
Retinitis pigmentosa: Understanding the clinical presentation, mechanisms and treatment options
-
Kalloniatis M, Fletcher EL. Retinitis pigmentosa: understanding the clinical presentation, mechanisms and treatment options. Clin Exp Optom 2004;87:65-80.
-
(2004)
Clin Exp Optom
, vol.87
, pp. 65-80
-
-
Kalloniatis, M.1
Fletcher, E.L.2
-
4
-
-
0032938659
-
Retinitis pigmentosa: Defined from a molecular point of view
-
van Soest S, Westerveld A, de Jong PT, Bleeker-Wagemakers EM, Bergen AA. Retinitis pigmentosa: defined from a molecular point of view. Surv Ophthalmol 1999;43:321-4.
-
(1999)
Surv Ophthalmol
, vol.43
, pp. 321-324
-
-
Soest, S.1
Westerveld, A.2
De Jong, P.T.3
Bleeker-Wagemakers, E.M.4
Bergen, A.A.5
-
5
-
-
19244381008
-
Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa
-
Hayakawa M, Fujiki K, Kanai A, et al. Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa. Jpn J Ophthalmol 1997;41:1-6.
-
(1997)
Jpn J Ophthalmol
, vol.41
, pp. 1-6
-
-
Hayakawa, M.1
Fujiki, K.2
Kanai, A.3
-
6
-
-
0031927666
-
Linkage analysis in a large Spanish family with X-linked retinitis pigmentosa: Phenotype-genotype correlation
-
Capeans C, Blanco MJ, Lareu MV, et al. Linkage analysis in a large Spanish family with X-linked retinitis pigmentosa: phenotype-genotype correlation. Clin Genet 1998;54:26-32.
-
(1998)
Clin Genet
, vol.54
, pp. 26-32
-
-
Capeans, C.1
Blanco, M.J.2
Lareu, M.V.3
-
7
-
-
0034622122
-
A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes
-
Phelan JK, Bok D. A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes. Mol Vis 2000;6:116-24.
-
(2000)
Mol Vis
, vol.6
, pp. 116-124
-
-
Phelan, J.K.1
Bok, D.2
-
8
-
-
0024269064
-
Retinitis pigmentosa
-
Pagon RA. Retinitis pigmentosa. Surv Ophthalmol 1988;33:137-77.
-
(1988)
Surv Ophthalmol
, vol.33
, pp. 137-177
-
-
Pagon, R.A.1
-
9
-
-
0027215872
-
A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa
-
Berson EL, Rosner B, Sandberg MA, et al. A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. Arch Ophthalmol 1993;111:761-72.
-
(1993)
Arch Ophthalmol
, vol.111
, pp. 761-772
-
-
Berson, E.L.1
Rosner, B.2
Sandberg, M.A.3
-
10
-
-
4444344714
-
Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment
-
Berson EL, Rosner B, Sandberg MA, et al. Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment. Arch Ophthalmol 2004;122:1297-305.
-
(2004)
Arch Ophthalmol
, vol.122
, pp. 1297-1305
-
-
Berson, E.L.1
Rosner, B.2
Sandberg, M.A.3
-
11
-
-
0345014794
-
Methods and perceptual thresholds for short-term electrical stimulation of human retina with microelectrode arrays
-
Rizzo JF 3rd, Wyatt J, Loewenstein J, Kelly S, Shire D. Methods and perceptual thresholds for short-term electrical stimulation of human retina with microelectrode arrays. Invest Ophthalmol Vis Sci 2003;44:5355-61.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 5355-5361
-
-
Rizzo III, J.F.1
Wyatt, J.2
Loewenstein, J.3
Kelly, S.4
Shire, D.5
-
12
-
-
0345445897
-
Perceptual efficacy of electrical stimulation of human retina with a microelectrode array during short-term surgical trials
-
Rizzo JF 3rd, Wyatt J, Loewenstein J, Kelly S, Shire D. Perceptual efficacy of electrical stimulation of human retina with a microelectrode array during short-term surgical trials. Invest Ophthalmol Vis Sci 2003;44:5362-9.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 5362-5369
-
-
Rizzo III, J.F.1
Wyatt, J.2
Loewenstein, J.3
Kelly, S.4
Shire, D.5
-
14
-
-
0038598030
-
Visual perception in a blind subject with a chromic microelectronic retinal prosthesis
-
Humayun MS, Weiland JD, Fujii GY, et al. Visual perception in a blind subject with a chromic microelectronic retinal prosthesis. Vision Res 2003;43:2573-81.
-
(2003)
Vision Res
, vol.43
, pp. 2573-2581
-
-
Humayun, M.S.1
Weiland, J.D.2
Fujii, G.Y.3
-
15
-
-
0029868192
-
Evaluation of patients with retinitis pigmentosa receiving electric stimulation, ozonated blood, and ocular surgery in Cuba
-
Berson EL, Remulla JF, Rosner B, Sandberg MA, Weigel-DiFranco C. Evaluation of patients with retinitis pigmentosa receiving electric stimulation, ozonated blood, and ocular surgery in Cuba. Arch Ophthalmol 1996;114:560-3.
-
(1996)
Arch Ophthalmol
, vol.114
, pp. 560-563
-
-
Berson, E.L.1
Remulla, J.F.2
Rosner, B.3
Sandberg, M.A.4
Weigel-DiFranco, C.5
-
16
-
-
1842425665
-
Outer retinal degeneration: An electronic retinal prosthesis as a treatment strategy
-
Loewenstein JI, Montezuma SR, Rizzo JF 3rd. Outer retinal degeneration: an electronic retinal prosthesis as a treatment strategy. Arch Ophthalmol 2004;122:587-96.
-
(2004)
Arch Ophthalmol
, vol.122
, pp. 587-596
-
-
Loewenstein, J.I.1
Montezuma, S.R.2
Rizzo III, J.F.3
-
17
-
-
0035032662
-
Gene therapy restores vision in a canine model of childhood blindness
-
Acland GM, Aguirre GD, Ray J, et al. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 2001;28:92-5.
-
(2001)
Nat Genet
, vol.28
, pp. 92-95
-
-
Acland, G.M.1
Aguirre, G.D.2
Ray, J.3
-
18
-
-
0033947697
-
Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy
-
Ali RR, Sarra GM, Stephens C, et al. Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Nat Genet 2000;25:306-10.
-
(2000)
Nat Genet
, vol.25
, pp. 306-310
-
-
Ali, R.R.1
Sarra, G.M.2
Stephens, C.3
-
19
-
-
5444266028
-
Recombinant AAV-mediated gene transfer to the retina: Gene therapy perspectives
-
Rolling F. Recombinant AAV-mediated gene transfer to the retina: gene therapy perspectives. Gene Ther 2004;11 (Suppl 1):26S-32S.
-
(2004)
Gene Ther
, vol.11
, Issue.SUPPL. 1
-
-
Rolling, F.1
-
20
-
-
2442480537
-
Inherited retinal degenerations: Therapeutic prospects
-
Delyfer MN, Leveillard T, Mohand-Said S, Hicks D, Picaud S, Sahel JA. Inherited retinal degenerations: therapeutic prospects. Biol Cell 2004;96:261-9.
-
(2004)
Biol Cell
, vol.96
, pp. 261-269
-
-
Delyfer, M.N.1
Leveillard, T.2
Mohand-Said, S.3
Hicks, D.4
Picaud, S.5
Sahel, J.A.6
-
21
-
-
0029842023
-
Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration
-
Keen TJ, Inglehearn CF. Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration. Hum Mutat 1996;8:297-303.
-
(1996)
Hum Mutat
, vol.8
, pp. 297-303
-
-
Keen, T.J.1
Inglehearn, C.F.2
-
22
-
-
0034940212
-
Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa
-
Kedzierski W, Nusinowitz S, Birch D, et al. Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa. Proc Natl Acad Sci USA 2001;98:7718-23.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 7718-7723
-
-
Kedzierski, W.1
Nusinowitz, S.2
Birch, D.3
-
23
-
-
9444295897
-
Gene mutations in retinitis pigmentosa and their clinical implications
-
Wang DY, Chan WM, Tam PO, et al. Gene mutations in retinitis pigmentosa and their clinical implications. Clin Chim Acta 2005;351:5-16.
-
(2005)
Clin Chim Acta
, vol.351
, pp. 5-16
-
-
Wang, D.Y.1
Chan, W.M.2
Tam, P.O.3
-
24
-
-
0036241436
-
Mutations of RPGR in X-linked retinitis pigmentosa (RP3)
-
Vervoort R, Wright AF. Mutations of RPGR in X-linked retinitis pigmentosa (RP3). Hum Mutat 2002;19:486-500.
-
(2002)
Hum Mutat
, vol.19
, pp. 486-500
-
-
Vervoort, R.1
Wright, A.F.2
-
25
-
-
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;1:209-13.
-
(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
-
26
-
-
12644290290
-
Autosomal recessive retinitis pigmentosa in Spain: Evaluation of four genes and two loci involved in the disease
-
Bayes M, Martinez-Mir A, Valverde D, et al. Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease. Clin Genet 1996;50:380-7.
-
(1996)
Clin Genet
, vol.50
, pp. 380-387
-
-
Bayes, M.1
Martinez-Mir, A.2
Valverde, D.3
-
27
-
-
0034223110
-
Three novel mutations (P215L, T289P, and 3811-2 A→G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families
-
Martinez-Gimeno M, Trujillo MJ, Lorda I, et al. Three novel mutations (P215L, T289P, and 3811-2 A→G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families. Hum Mutat 2000;16:95-6.
-
(2000)
Hum Mutat
, vol.16
, pp. 95-96
-
-
Martinez-Gimeno, M.1
Trujillo, M.J.2
Lorda, I.3
-
29
-
-
0032499711
-
Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man
-
Cideciyan AV, Hood DC, Huang Y, et al. Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proc Natl Acad Sci USA 1998;95:7103-8.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 7103-7108
-
-
Cideciyan, A.V.1
Hood, D.C.2
Huang, Y.3
-
30
-
-
0041848367
-
Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23
-
Oh KT, Longmuir R, Oh DM, et al. Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23. Am J Ophthalmol 2003;136:306-13.
-
(2003)
Am J Ophthalmol
, vol.136
, pp. 306-313
-
-
Oh, K.T.1
Longmuir, R.2
Oh, D.M.3
-
31
-
-
1542674451
-
Molecular genetic analysis for Japanese patients with autosomal dominant retinitis pigmentosa
-
Wada Y, Tamai M. Molecular genetic analysis for Japanese patients with autosomal dominant retinitis pigmentosa [in Japanese]. Nippon Ganka Gakkai Zasshi 2003;107:687-94.
-
(2003)
Nippon Ganka Gakkai Zasshi
, vol.107
, pp. 687-694
-
-
Wada, Y.1
Tamai, M.2
-
32
-
-
0034839724
-
Rhodopsin mutations in Chinese patients with retinitis pigmentosa
-
Chan WM, Yeung KY, Pang CP, et al. Rhodopsin mutations in Chinese patients with retinitis pigmentosa. Br J Ophthalmol 2001;85:1046-8.
-
(2001)
Br J Ophthalmol
, vol.85
, pp. 1046-1048
-
-
Chan, W.M.1
Yeung, K.Y.2
Pang, C.P.3
-
33
-
-
0036327111
-
Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His
-
To K, Adamian M, Dryja TP, Berson EL. Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His. Am J Ophthalmol 2002;134:290-3.
-
(2002)
Am J Ophthalmol
, vol.134
, pp. 290-293
-
-
To, K.1
Adamian, M.2
Dryja, T.P.3
Berson, E.L.4
-
34
-
-
0033031796
-
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa
-
Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet 1999;22:248-54.
-
(1999)
Nat Genet
, vol.22
, pp. 248-254
-
-
Pierce, E.A.1
Quinn, T.2
Meehan, T.3
McGee, T.L.4
Berson, E.L.5
Dryja, T.P.6
-
35
-
-
0032989251
-
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa
-
Sullivan LS, Heckenlively JR, Bowne SJ, et al. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nat Genet 1999;22:255-9.
-
(1999)
Nat Genet
, vol.22
, pp. 255-259
-
-
Sullivan, L.S.1
Heckenlively, J.R.2
Bowne, S.J.3
-
36
-
-
0032838642
-
A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus
-
Guillonneau X, Piriev NI, Danciger M, et al. A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. Hum Mol Genet 1999;8:1541-6.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1541-1546
-
-
Guillonneau, X.1
Piriev, N.I.2
Danciger, M.3
-
37
-
-
0041342076
-
De novo mutation in the RP1 Gene (Arg677ter) associated with retinitis pigmentosa
-
Schwartz SB, Aleman TS, Cideciyan AV, Swaroop A, Jacobson SG, Stone EM. De novo mutation in the RP1 Gene (Arg677ter) associated with retinitis pigmentosa. Invest Ophthalmol Vis Sci 2003;44:3593-7.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 3593-3597
-
-
Schwartz, S.B.1
Aleman, T.S.2
Cideciyan, A.V.3
Swaroop, A.4
Jacobson, S.G.5
Stone, E.M.6
-
38
-
-
2942614972
-
Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa
-
Kawamura M, Wada Y, Noda Y, et al. Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa. Am J Ophthalmol 2004;137:1137-9.
-
(2004)
Am J Ophthalmol
, vol.137
, pp. 1137-1139
-
-
Kawamura, M.1
Wada, Y.2
Noda, Y.3
-
39
-
-
0034842578
-
Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1)
-
Berson EL, Grimsby JL, Adams SM, et al. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). Invest Ophthalmol Vis Sci 2001;42:2217-24.
-
(2001)
Invest Ophthalmol Vis Sci
, vol.42
, pp. 2217-2224
-
-
Berson, E.L.1
Grimsby, J.L.2
Adams, S.M.3
-
40
-
-
15844378213
-
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
-
Meindl A, Dry K, Herrmann K, et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet 1996;13:35-42.
-
(1996)
Nat Genet
, vol.13
, pp. 35-42
-
-
Meindl, A.1
Dry, K.2
Herrmann, K.3
-
41
-
-
0037378886
-
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15
-
Bader I, Brandau O, Achatz H, et al. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. Invest Ophthalmol Vis Sci 2003;44:1458-63.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 1458-1463
-
-
Bader, I.1
Brandau, O.2
Achatz, H.3
-
42
-
-
0141570506
-
Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families
-
Koenekoop RK, Loyer M, Hand CK, et al. Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. Am J Ophthalmol 2003;136:678-87.
-
(2003)
Am J Ophthalmol
, vol.136
, pp. 678-687
-
-
Koenekoop, R.K.1
Loyer, M.2
Hand, C.K.3
-
43
-
-
0034198913
-
Identification of two novel mutations (E332X and c153delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa
-
Liu L, Jin L, Liu M, et al. Identification of two novel mutations (E332X and c153delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa. Hum Mutat 2000;15:584.
-
(2000)
Hum Mutat
, vol.15
, pp. 584
-
-
Liu, L.1
Jin, L.2
Liu, M.3
-
44
-
-
0002590642
-
RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa
-
Baum L, Chan WM, Yeung KY, Lam DS, Kwok AK, Pang CP. RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa. Hum Mutat 2001;17:436.
-
(2001)
Hum Mutat
, vol.17
, pp. 436
-
-
Baum, L.1
Chan, W.M.2
Yeung, K.Y.3
Lam, D.S.4
Kwok, A.K.5
Pang, C.P.6
-
45
-
-
0034094531
-
Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa
-
Jacobson SG, Cideciyan AV, Iannaccone A, et al. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2000;41:1898-908.
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, pp. 1898-1908
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Iannaccone, A.3
-
46
-
-
0035572954
-
Novel deletion of the RPGR gene in a Chinese family with X-linked retinitis pigmentosa
-
Zhao K, Wang L, Wang L, Wang L, Zhang Q, Wang Q. Novel deletion of the RPGR gene in a Chinese family with X-linked retinitis pigmentosa. Ophthalmic Genet 2001;22:187-94.
-
(2001)
Ophthalmic Genet
, vol.22
, pp. 187-194
-
-
Zhao, K.1
Wang, L.2
Wang, L.3
Wang, L.4
Zhang, Q.5
Wang, Q.6
-
47
-
-
0038313211
-
Detection of single nucleotide polymorphisms
-
Kwok PY, Chen X. Detection of single nucleotide polymorphisms. Curr Issues Mol Biol 2003;5:43-60.
-
(2003)
Curr Issues Mol Biol
, vol.5
, pp. 43-60
-
-
Kwok, P.Y.1
Chen, X.2
-
48
-
-
18844414022
-
High-throughput single-strand conformation polymorphism analysis on a microfabricated capillary array electrophoresis device
-
Tian H, Emrich CA, Scherer JR, et al. High-throughput single-strand conformation polymorphism analysis on a microfabricated capillary array electrophoresis device. Electrophoresis 2005;26:1834-42.
-
(2005)
Electrophoresis
, vol.26
, pp. 1834-1842
-
-
Tian, H.1
Emrich, C.A.2
Scherer, J.R.3
-
49
-
-
15544369976
-
novoSNP, a novel computational tool for sequence variation discovery
-
Weckx S, Del-Favero J, Rademakers R, et al. novoSNP, a novel computational tool for sequence variation discovery. Genome Res 2005;15:436-42.
-
(2005)
Genome Res
, vol.15
, pp. 436-442
-
-
Weckx, S.1
Del-Favero, J.2
Rademakers, R.3
-
50
-
-
0242439359
-
Comparison of GenFlex Tag array and Pyrosequencing in SNP genotyping
-
Chen DC, Saarela J, Nuotio I, Jokiaho A, Peltonen L, Palotie A. Comparison of GenFlex Tag array and Pyrosequencing in SNP genotyping. J Mol Diagn 2003;5:243-9.
-
(2003)
J Mol Diagn
, vol.5
, pp. 243-249
-
-
Chen, D.C.1
Saarela, J.2
Nuotio, I.3
Jokiaho, A.4
Peltonen, L.5
Palotie, A.6
-
51
-
-
2342626684
-
Approaches for analyzing human mutations and nucleotide sequence variation: A report from the Seventh International Mutation Detection meeting, 2003
-
Syvanen AC, Taylor GR. Approaches for analyzing human mutations and nucleotide sequence variation: a report from the Seventh International Mutation Detection meeting, 2003. Hum Mutat 2004;23:401-5.
-
(2004)
Hum Mutat
, vol.23
, pp. 401-405
-
-
Syvanen, A.C.1
Taylor, G.R.2
-
52
-
-
0035134170
-
High-throughput conformation-sensitive gel electrophoresis for discovery of SNPs
-
Leung YF, Tam PO, Tong WC, et al. High-throughput conformation-sensitive gel electrophoresis for discovery of SNPs. Biotechniques 2001;30:334-40.
-
(2001)
Biotechniques
, vol.30
, pp. 334-340
-
-
Leung, Y.F.1
Tam, P.O.2
Tong, W.C.3
-
53
-
-
0033813257
-
Cost savings using automated DNA sequencing
-
Leung YF, Tam PO, Baum L, Chan WM, Lam DS, Pang CP. Cost savings using automated DNA sequencing. Biotechniques 2000;29:544.
-
(2000)
Biotechniques
, vol.29
, pp. 544
-
-
Leung, Y.F.1
Tam, P.O.2
Baum, L.3
Chan, W.M.4
Lam, D.S.5
Pang, C.P.6
-
54
-
-
0034751290
-
Molecular diagnostics for retinitis pigmentosa
-
Yeung KY, Baum L, Chan WM, Lam DS, Kwok AK, Pang CP. Molecular diagnostics for retinitis pigmentosa. Clin Chim Acta 2001;313:209-15.
-
(2001)
Clin Chim Acta
, vol.313
, pp. 209-215
-
-
Yeung, K.Y.1
Baum, L.2
Chan, W.M.3
Lam, D.S.4
Kwok, A.K.5
Pang, C.P.6
|