-
1
-
-
7144223296
-
Gene action in the X-chromosome of the mouse (Mus musculus L
-
Lyon M. Gene action in the X-chromosome of the mouse (Mus musculus L). Nature 1961; 190:372-373.
-
(1961)
Nature
, vol.190
, pp. 372-373
-
-
Lyon, M.1
-
2
-
-
0024572227
-
X-chromosome inactivation as a system of gene dosage compensation to regulate gene expression
-
Lyon M. X-chromosome inactivation as a system of gene dosage compensation to regulate gene expression. Prog Nucleic Acid Res Mol Biol 1989; 36:119-130.
-
(1989)
Prog Nucleic Acid Res Mol Biol
, vol.36
, pp. 119-130
-
-
Lyon, M.1
-
3
-
-
84887212282
-
Unravelling X-inactivation through time: Impactions of X-linked disorders in humans
-
Sofocleous C, Kanioura A, Amenta S, et al. Unravelling X-inactivation through time: Impactions of X-linked disorders in humans. Human Genet Embryol 2012; S3:001.
-
(2012)
Human Genet Embryol
, vol.S3
, pp. 001
-
-
Sofocleous, C.1
Kanioura, A.2
Amenta, S.3
-
4
-
-
77953679543
-
Context of change: X-inactivation and disease
-
Agrelo R, Wutz A. Context of change: X-inactivation and disease. EMBO Mol Med 2010; 2:6-15.
-
(2010)
EMBO Mol Med
, vol.2
, pp. 6-15
-
-
Agrelo, R.1
Wutz, A.2
-
5
-
-
33745224136
-
X-chromosomes Alternate Between Two States Prior Torandom X-Inactivation
-
Mlynarczyk-Evans S, Royce-Tolland M, Alexander MK, et al. X-chromosomes alternate between two states prior to random X-Inactivation. PloS Biol 2006; 4:e159.
-
(2006)
PloS Biol
, vol.4
-
-
Mlynarczyk-Evans, S.1
Royce-Tolland, M.2
Alexander, M.K.3
-
6
-
-
33644751726
-
Transient colocalization of X-inactivation centres accompanies the initiation of X inactivation
-
Bacher CP, Guggiari M, Brors B, et al. Transient colocalization of X-inactivation centres accompanies the initiation of X inactivation. Nat Cell Biol 2006; 8:293-299.
-
(2006)
Nat Cell Biol
, vol.8
, pp. 293-299
-
-
Bacher, C.P.1
Guggiari, M.2
Brors, B.3
-
7
-
-
0036727705
-
Homozygous Tsix Mutant Mice Reveal A Sex-ratio Distortion And Revert To random X-inactivation
-
Lee JT. Homozygous Tsix mutant mice reveal a sex-ratio distortion and revert to random X-inactivation. Nat Genet 2002; 32:195-200.
-
(2002)
Nat Genet
, vol.32
, pp. 195-200
-
-
Lee, J.T.1
-
8
-
-
34547842802
-
Why females are mosaics: X-inactivation and sex differences in diseases
-
Migeon B. Why females are mosaics: X-inactivation and sex differences in diseases. Gend Med 2007; 4:97-105.
-
(2007)
Gend Med
, vol.4
, pp. 97-105
-
-
Migeon, B.1
-
9
-
-
0014713395
-
Hemizygous expression of glucose-6- phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch- Nyhan syndrome
-
Nyhan WL, Bakay B, Connor JD, et al. Hemizygous expression of glucose-6- phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch- Nyhan syndrome. Proc Natl Acad Sci USA 1970; 65:214-218.
-
(1970)
Proc Natl Acad Sci USA
, vol.65
, pp. 214-218
-
-
Nyhan, W.L.1
Bakay, B.2
Connor, J.D.3
-
10
-
-
70349314767
-
X chromosome inactivation in clinical practice
-
Orstavik K. X chromosome inactivation in clinical practice. Human Genet 2009; 126:363-373.
-
(2009)
Human Genet
, vol.126
, pp. 363-373
-
-
Orstavik, K.1
-
12
-
-
0015356840
-
Evidence of nonrandom X chromosome activity in the mouse
-
Cattanach BM, Williams CE. Evidence of nonrandom X chromosome activity in the mouse. Genet Res 1972; 19:229-240.
-
(1972)
Genet Res
, vol.19
, pp. 229-240
-
-
Cattanach, B.M.1
Williams, C.E.2
-
13
-
-
80053545055
-
DNA methylation profiles of human active and inactive X chromosomes
-
Sharp AJ, Stathaki E, Migliavacca E, et al. DNA methylation profiles of human active and inactive X chromosomes. Genome Res 2011; 21:1592-1600.
-
(2011)
Genome Res
, vol.21
, pp. 1592-1600
-
-
Sharp, A.J.1
Stathaki, E.2
Migliavacca, E.3
-
14
-
-
15244353967
-
X-inactivation profile reveals extensive variability in X-linked gene expression in females
-
Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 2005; 434:400-404.
-
(2005)
Nature
, vol.434
, pp. 400-404
-
-
Carrel, L.1
Willard, H.F.2
-
15
-
-
0027322387
-
Clinical methods for detecting the carrier state of X-chromosome-linked retinal disorders
-
Wald KJ, Hirose T. Clinical methods for detecting the carrier state of X-chromosome-linked retinal disorders. Int Ophthalmol Clin 1993; 33:203-217.
-
(1993)
Int Ophthalmol Clin
, vol.33
, pp. 203-217
-
-
Wald, K.J.1
Hirose, T.2
-
16
-
-
0036282588
-
Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia
-
Roberts MF, Fishman GA, Roberts DK, et al. Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia. Br J Ophthalmol 2002; 86:658-662.
-
(2002)
Br J Ophthalmol
, vol.86
, pp. 658-662
-
-
Roberts, M.F.1
Fishman, G.A.2
Roberts, D.K.3
-
17
-
-
0022589420
-
Electroretinographic findings in selected pedigrees with choroideremia
-
Sieving PA, Niffenegger JH, Berson EL. Electroretinographic findings in selected pedigrees with choroideremia. Am J Ophthalmol 1986; 101:361-367.
-
(1986)
Am J Ophthalmol
, vol.101
, pp. 361-367
-
-
Sieving, P.A.1
Niffenegger, J.H.2
Berson, E.L.3
-
18
-
-
16944364182
-
Molecular basis of choroideremia (CHM): Mutations involving the Rab escort protein-1 (REP-1) gene
-
Van Den Hurk JA, Schwartz M, van Bokhoven H, et al. Molecular basis of choroideremia (CHM): Mutations involving the Rab escort protein-1 (REP-1) gene. Hum Mutat 1997; 9:110-117.
-
(1997)
Hum Mutat
, vol.9
, pp. 110-117
-
-
Van Den Hurk, J.A.1
Schwartz, M.2
Van Bokhoven, H.3
-
19
-
-
0025194109
-
Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases
-
Cremers FP, Sankila EM, Brunsmann F, et al. Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases. Am J Hum Genet 1990; 47:622-628.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 622-628
-
-
Cremers, F.P.1
Sankila, E.M.2
Brunsmann, F.3
-
20
-
-
0025271237
-
Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis
-
Van De Pol TJ, Cremers FP, Brohet RM, et al. Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis. Nucleic Acids Res 1990; 18:725-731.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 725-731
-
-
Van De Pol, T.J.1
Cremers, F.P.2
Brohet, R.M.3
-
21
-
-
0027339162
-
Retinal degeneration in choroideremia: Deficiency of rab geranylgeranyl transferase
-
Seabra MC, Brown MS, Goldstein JL. Retinal degeneration in choroideremia: Deficiency of rab geranylgeranyl transferase. Science 1993; 259:377-381.
-
(1993)
Science
, vol.259
, pp. 377-381
-
-
Seabra, M.C.1
Brown, M.S.2
Goldstein, J.L.3
-
22
-
-
0026864788
-
Aberrant splicing of the CHM gene is a significant cause of choroideremia
-
Sankila EM, Tolvanen R, van den Hurk JA, et al. Aberrant splicing of the CHM gene is a significant cause of choroideremia. Nat Genet 1992; 1:109-113.
-
(1992)
Nat Genet
, vol.1
, pp. 109-113
-
-
Sankila, E.M.1
Tolvanen, R.2
Van Den Hurk, J.A.3
-
23
-
-
0026749895
-
Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing
-
Van den Hurk JA, van de Pol TJ, Molloy CM, Brunsmann F, et al. Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. Am J Hum Genet 1992; 50:1195-1202.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1195-1202
-
-
Van Den Hurk, J.A.1
Van De Pol, T.J.2
Molloy, C.M.3
Brunsmann, F.4
-
24
-
-
0028285493
-
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients
-
Van Bokhoven H, Schwartz M, Andreasson S, et al. Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients. Hum Mol Genet 1994; 3:1047-1051.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1047-1051
-
-
Van Bokhoven, H.1
Schwartz, M.2
Andreasson, S.3
-
25
-
-
0028786734
-
Phenotype variations within a choroideremia family lacking the entire CHM gene
-
Ponjavic V, Abrahamson M, Andreasson S, et al. Phenotype variations within a choroideremia family lacking the entire CHM gene. Ophthalmic Genet 1995; 16:143-150.
-
(1995)
Ophthalmic Genet
, vol.16
, pp. 143-150
-
-
Ponjavic, V.1
Abrahamson, M.2
Andreasson, S.3
-
26
-
-
84887211524
-
Choroideremia; report of a case
-
Esterman B. Choroideremia; report of a case. Arch Ophthalmol 1947; 37:716-721.
-
(1947)
Arch Ophthalmol
, vol.37
, pp. 716-721
-
-
Esterman, B.1
-
27
-
-
65349134246
-
Choroideremia: New findings from ocular pathology and review of recent literature
-
MacDonald IM, Russell L, Chan CC. Choroideremia: New findings from ocular pathology and review of recent literature. Surv Ophthalmol 2009; 54:401-407.
-
(2009)
Surv Ophthalmol
, vol.54
, pp. 401-407
-
-
MacDonald, I.M.1
Russell, L.2
Chan, C.C.3
-
28
-
-
33749140610
-
Remodeling of the human retina in choroideremia: Rab escort protein 1 (REP-1) mutations
-
Jacobson SG, Cideciyan AV, Sumaroka A, et al. Remodeling of the human retina in choroideremia: Rab escort protein 1 (REP-1) mutations. Invest Ophthalmol Vis Sci 2006; 47:4113-4120.
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 4113-4120
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Sumaroka, A.3
-
29
-
-
84862832909
-
Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP
-
Lazow MA, Hood DC, Ramachandran R, et al. Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP). Invest Ophthalmol Vis Sci 2011; 52:9581-9590.
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 9581-9590
-
-
Lazow, M.A.1
Hood, D.C.2
Ramachandran, R.3
-
30
-
-
34547876065
-
Clinical and functional findings in choroideremia due to complete deletion of the CHM gene
-
Mura M, Sereda C, Jablonski MM, et al. Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. Arch Ophthalmol 2007; 125:1107-1113.
-
(2007)
Arch Ophthalmol
, vol.125
, pp. 1107-1113
-
-
Mura, M.1
Sereda, C.2
Jablonski, M.M.3
-
31
-
-
0023131206
-
Histopathologic observations in choroideremia with emphasis on vascular changes of the uveal tract
-
Cameron JD, Fine BS, Shapiro I. Histopathologic observations in choroideremia with emphasis on vascular changes of the uveal tract. Ophthalmology 1987; 94:187-196.
-
(1987)
Ophthalmology
, vol.94
, pp. 187-196
-
-
Cameron, J.D.1
Fine, B.S.2
Shapiro, I.3
-
32
-
-
0021212980
-
Choroideremia: A clinical, electron microscopic, and biochemical report
-
Rodrigues MM, Ballintine EJ, Wiggert BN, et al. Choroideremia: A clinical, electron microscopic, and biochemical report. Ophthalmology 1984; 91:873-883.
-
(1984)
Ophthalmology
, vol.91
, pp. 873-883
-
-
Rodrigues, M.M.1
Ballintine, E.J.2
Wiggert, B.N.3
-
33
-
-
0018850817
-
Pathological findings from two cases of choroideremia
-
Ghosh M, McCulloch JC. Pathological findings from two cases of choroideremia. Can J Ophthalmol 1980; 15:147-153.
-
(1980)
Can J Ophthalmol
, vol.15
, pp. 147-153
-
-
Ghosh, M.1
McCulloch, J.C.2
-
34
-
-
0035083014
-
Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia
-
Syed N, Smith JE, John SK, et al. Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. Ophthalmology 2001; 108:711-720.
-
(2001)
Ophthalmology
, vol.108
, pp. 711-720
-
-
Syed, N.1
Smith, J.E.2
John, S.K.3
-
37
-
-
0022518241
-
Choroideremia A clinical and genetic study of 84 Finnish patients and 126 female carriers
-
Karna J. Choroideremia. A clinical and genetic study of 84 Finnish patients and 126 female carriers. Acta Ophthalmol Suppl 1986; 176:1-68.
-
(1986)
Acta Ophthalmol Suppl
, vol.176
, pp. 1-68
-
-
Karna, J.1
-
38
-
-
78649256487
-
Microperimetry and OCT findings in female carriers of choroideremia
-
Thobani A, Anastasakis A, Fishman GA. Microperimetry and OCT findings in female carriers of choroideremia. Ophthalmic Genet 2010; 31:235-239.
-
(2010)
Ophthalmic Genet
, vol.31
, pp. 235-239
-
-
Thobani, A.1
Anastasakis, A.2
Fishman, G.A.3
-
39
-
-
41149138131
-
Detection of mosaic retinal dysfunction in choroideremia carriers electroretinographic and psychophysical testing
-
Vajaranant TS, Fishman GA, Szlyk JP, et al. Detection of mosaic retinal dysfunction in choroideremia carriers electroretinographic and psychophysical testing. Ophthalmology 2008; 115:723-729.
-
(2008)
Ophthalmology
, vol.115
, pp. 723-729
-
-
Vajaranant, T.S.1
Fishman, G.A.2
Szlyk, J.P.3
-
40
-
-
67349105082
-
Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data
-
Preising MN, Wegscheider E, Friedburg C, et al. Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data. Ophthalmology 2009; 116:1201-1209 e.
-
(2009)
Ophthalmology
, vol.116
, pp. 1201-1209
-
-
Preising, M.N.1
Wegscheider, E.2
Friedburg, C.3
-
41
-
-
0004431486
-
Clinical and genetic features of choroideremia
-
Ohba N, Isashiki Y. Clinical and genetic features of choroideremia. Japanese J Ophthalmol 2000; 44:317.
-
(2000)
Japanese J Ophthalmol
, vol.44
, pp. 317
-
-
Ohba, N.1
Isashiki, Y.2
-
42
-
-
84863450060
-
Choroideremia: Effect of age on visual acuity in patients and female carriers
-
Coussa RG, Kim J, Traboulsi EI. Choroideremia: Effect of age on visual acuity in patients and female carriers. Ophthalmic Genet 2012; 33:66-73.
-
(2012)
Ophthalmic Genet
, vol.33
, pp. 66-73
-
-
Coussa, R.G.1
Kim, J.2
Traboulsi, E.I.3
-
43
-
-
4744356755
-
Clinical findings in a carrier of a new mutation in the choroideremia gene
-
Potter MJ, Wong E, Szabo SM, McTaggart KE. Clinical findings in a carrier of a new mutation in the choroideremia gene. Ophthalmology 2004; 111:1905-1909.
-
(2004)
Ophthalmology
, vol.111
, pp. 1905-1909
-
-
Potter, M.J.1
Wong, E.2
Szabo, S.M.3
McTaggart, K.E.4
-
44
-
-
84883462311
-
Hereditary retinal and choroidal degenerations
-
Elsevier
-
Heckenlively Jr. Hereditary retinal and choroidal degenerations. 5th ed Churchill Livingston: Elsevier; 2007.
-
(2007)
5th ed Churchill Livingston
-
-
Heckenlively, J.R.1
-
49
-
-
33846957381
-
Perspective on genes and mutations causing retinitis pigmentosa
-
Daiger SP. 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
-
50
-
-
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
-
51
-
-
8944241311
-
Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide- exchange factor RCC1.
-
Roepman R, van Duijnhoven G, Rosenberg T, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide- exchange factor RCC1. Hum Mol Genet 1996; 5:1035-1041.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1035-1041
-
-
Roepman, R.1
Van Duijnhoven, G.2
Rosenberg, T.3
-
52
-
-
17344363489
-
Positional cloning of the gene for X-linked retinitis pigmentosa 2.
-
Schwahn U, Lenzner S, Dong J, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet 1998; 19:327-332.
-
(1998)
Nat Genet
, vol.19
, pp. 327-332
-
-
Schwahn, U.1
Lenzner, S.2
Dong, J.3
-
53
-
-
0021344697
-
Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28.
-
Bhattacharya S, Wright AF, Clayton JF, et al. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature 1984; 309:253-255.
-
(1984)
Nature
, vol.309
, pp. 253-255
-
-
Bhattacharya, S.1
Wright, A.F.2
Clayton, J.F.3
-
54
-
-
18344391605
-
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa
-
Breuer DK, Yashar BM, Filippova E, et al. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet 2002; 70:1545-1554.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1545-1554
-
-
Breuer, D.K.1
Yashar, B.M.2
Filippova, E.3
-
55
-
-
0017838513
-
Retinitis pigmentosa Genetic percentage
-
Fishman G. Retinitis pigmentosa. Genetic percentage. Arch Ophthalmol 1978; 96:822-826.
-
(1978)
Arch Ophthalmol
, vol.96
, pp. 822-826
-
-
Fishman, G.1
-
56
-
-
0016491752
-
X-linked retinitis pigmentosa
-
Bird AC. X-linked retinitis pigmentosa. Br J Ophthalmol 1975; 59:177-199.
-
(1975)
Br J Ophthalmol
, vol.59
, pp. 177-199
-
-
Bird, A.C.1
-
57
-
-
0023926027
-
X-linked retinitis pigmentosa Profile of clinical findings
-
Fishman GF, Farber MD, Derlacki DJ. X-linked retinitis pigmentosa. Profile of clinical findings. Arch Ophthalmol 1986; 1988:369-375.
-
(1986)
Arch Ophthalmol
, vol.1988
, pp. 369-375
-
-
Fishman, G.F.1
Farber, M.D.2
Derlacki, D.J.3
-
58
-
-
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
-
59
-
-
0034425755
-
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa
-
Vervoort R, Lennon A, Bird AC, et al. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet 2000; 25:462-466.
-
(2000)
Nat Genet
, vol.25
, pp. 462-466
-
-
Vervoort, R.1
Lennon, A.2
Bird, A.C.3
-
60
-
-
0242522448
-
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa
-
Sharon D, Sandberg MA, Rabe VW, et al. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet 2003; 73:1131-1146.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1131-1146
-
-
Sharon, D.1
Sandberg, M.A.2
Rabe, V.W.3
-
61
-
-
33845937443
-
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: Genotype- phenotype correlations and impact on genetic counseling
-
Pelletier V, Jambou M, Delphin N, et al. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: Genotype- phenotype correlations and impact on genetic counseling. Hum Mutat 2007; 28:81-91.
-
(2007)
Hum Mutat
, vol.28
, pp. 81-91
-
-
Pelletier, V.1
Jambou, M.2
Delphin, N.3
-
62
-
-
0033364676
-
Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa
-
Mears AJ, Gieser L, Yan D, et al. Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet 1999; 64:897-900.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 897-900
-
-
Mears, A.J.1
Gieser, L.2
Yan, D.3
-
63
-
-
0033854355
-
X-linked retinitis pigmentosa: Mutation spectrum of the RPGR and RP2 genes and correlation with visual function
-
Sharon D, Bruns GA, McGee TL, et al. X-linked retinitis pigmentosa: Mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Invest Ophthalmol Vis Sci 2000; 41:2712-2721.
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, pp. 2712-2721
-
-
Sharon, D.1
Bruns, G.A.2
McGee, T.L.3
-
64
-
-
0033361920
-
Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study
-
Hardcastle AJ, Thiselton DL, Van Maldergem L, et al. Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. Am J Hum Genet 1999; 64:1210-1215.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1210-1215
-
-
Hardcastle, A.J.1
Thiselton, D.L.2
Van Maldergem, L.3
-
65
-
-
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; 44:1458-1463.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 1458-1463
-
-
Bader, I.1
Brandau, O.2
Achatz, H.3
-
66
-
-
27744574620
-
Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms. Hum Mol Genet
-
Ferreira PA. Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms. Hum Mol Genet 2005; 14 Spec No. 2:R259-R267.
-
(2005)
14 Spec
, Issue.2
-
-
Ferreira, P.A.1
-
67
-
-
45849110349
-
Identification of novel mutations in Xlinked retinitis pigmentosa families and implications for diagnostic testing
-
Neidhardt J, Glaus E, Lorenz B, et al. Identification of novel mutations in Xlinked retinitis pigmentosa families and implications for diagnostic testing. Mol Vis 2008; 14:1081-1093.
-
(2008)
Mol Vis
, vol.14
, pp. 1081-1093
-
-
Neidhardt, J.1
Glaus, E.2
Lorenz, B.3
-
68
-
-
0033799623
-
Remapping of the RP15 locus for Xlinked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.
-
Mears AJ, Hiriyanna S, Vervoort R, et al. Remapping of the RP15 locus for Xlinked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15. Am J Hum Genet 2000; 67:1000-1003.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1000-1003
-
-
Mears, A.J.1
Hiriyanna, S.2
Vervoort, R.3
-
69
-
-
0036992832
-
X-linked recessive atrophic macular degeneration from RPGR mutation
-
Ayyagari R, Demirci FY, Liu J, et al. X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics 2002; 80:166-171.
-
(2002)
Genomics
, vol.80
, pp. 166-171
-
-
Ayyagari, R.1
Demirci, F.Y.2
Liu, J.3
-
70
-
-
0038331670
-
Phenotype in two families with RP3 associated with RPGR mutations
-
Lorenz B, Andrassi M, Kretschmann U. Phenotype in two families with RP3 associated with RPGR mutations. Ophthalmic Genet 2003; 24:89-101.
-
(2003)
Ophthalmic Genet
, vol.24
, pp. 89-101
-
-
Lorenz, B.1
Andrassi, M.2
Kretschmann, U.3
-
71
-
-
34047251141
-
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations
-
Sandberg MA, Rosner B, Weigel-DiFranco C, et al. Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Invest Ophthalmol Vis Sci 2007; 48:1298-1304.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 1298-1304
-
-
Sandberg, M.A.1
Rosner, B.2
Weigel-DiFranco, C.3
-
72
-
-
77955006177
-
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa
-
Jayasundera T, Branham KE, Othman M, et al. RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Arch Ophthalmol 2010; 128:915-923.
-
(2010)
Arch Ophthalmol
, vol.128
, pp. 915-923
-
-
Jayasundera, T.1
Branham, K.E.2
Othman, M.3
-
73
-
-
0032743211
-
Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2
-
Rosenberg T, Schwahn U, Feil S, Berger W. Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2). Ophthalmic Genet 1999; 20:161-172.
-
(1999)
Ophthalmic Genet
, vol.20
, pp. 161-172
-
-
Rosenberg, T.1
Schwahn, U.2
Feil, S.3
Berger, W.4
-
74
-
-
12144291356
-
An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene
-
Dandekar SS, Ebenezer ND, Grayson C, et al. An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene. Br J Ophthalmol 2004; 88:528-532.
-
(2004)
Br J Ophthalmol
, vol.88
, pp. 528-532
-
-
Dandekar, S.S.1
Ebenezer, N.D.2
Grayson, C.3
-
75
-
-
0033800806
-
Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of Leber hereditary optic neuropathy who showed marked differences in clinical severity
-
Mashima Y, Saga M, Hiida Y, et al. Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of Leber hereditary optic neuropathy who showed marked differences in clinical severity. Am J Ophthalmol 2000; 130:357-359.
-
(2000)
Am J Ophthalmol
, vol.130
, pp. 357-359
-
-
Mashima, Y.1
Saga, M.2
Hiida, Y.3
-
76
-
-
1642474064
-
Arg120stop nonsense mutation in the RP2 gene: Mutational hotspot and germ line mosaicism?
-
Vorster AA, Rebello MT, Coutts N, et al. Arg120stop nonsense mutation in the RP2 gene: Mutational hotspot and germ line mosaicism? Clin Genet 2004; 65:7-10.
-
(2004)
Clin Genet
, vol.65
, pp. 7-10
-
-
Vorster, A.A.1
Rebello, M.T.2
Coutts, N.3
-
77
-
-
0033986020
-
A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa
-
Wada Y, Nakazawa M, Abe T, Tamai M. A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci 2000; 41:290-293.
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, pp. 290-293
-
-
Wada, Y.1
Nakazawa, M.2
Abe, T.3
Tamai, M.4
-
78
-
-
77952503327
-
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa
-
Wu DM, Khanna H, Atmaca-Sonmez P, et al. Long-term follow-up of a family with dominant X-linked retinitis pigmentosa. Eye (Lond) 2010; 24:764-774.
-
(2010)
Eye (Lond)
, vol.24
, pp. 764-774
-
-
Wu, D.M.1
Khanna, H.2
Atmaca-Sonmez, P.3
-
79
-
-
0343447115
-
Chorioretinal degeneration or retinitis pigmentosa of intermediate sex-linked heredity
-
Francois J. Chorioretinal degeneration or retinitis pigmentosa of intermediate sex-linked heredity. Doc Ophthalmol 1962; 16:111-127.
-
(1962)
Doc Ophthalmol
, vol.16
, pp. 111-127
-
-
Francois, J.1
-
80
-
-
0001104505
-
Sex-linked ocular disorders: Trait expressivity in males and carrier females
-
Goodman G, Ripps H, Siegel IM. Sex-linked ocular disorders: Trait expressivity in males and carrier females. Arch Ophthalmol 1965; 73:387-398.
-
(1965)
Arch Ophthalmol
, vol.73
, pp. 387-398
-
-
Goodman, G.1
Ripps, H.2
Siegel, I.M.3
-
81
-
-
0014183028
-
Observations of carriers of X-chromosomal-linked chorioretinal degenerations Do these support the 'inactivation hypothesis'?
-
Krill AE. Observations of carriers of X-chromosomal-linked chorioretinal degenerations. Do these support the 'inactivation hypothesis'? Am J Ophthalmol 1967; 64:1029-1040.
-
(1967)
Am J Ophthalmol
, vol.64
, pp. 1029-1040
-
-
Krill, A.E.1
-
82
-
-
0014194167
-
X-linked retinitis pigmentosa and linkage studies with the Xg blood-groups
-
Klein D, Franceschetti A, Hussels I, et al. X-linked retinitis pigmentosa and linkage studies with the Xg blood-groups. Lancet 1967; 1:974-975.
-
(1967)
Lancet
, vol.1
, pp. 974-975
-
-
Klein, D.1
Franceschetti, A.2
Hussels, I.3
-
83
-
-
0014920049
-
X-linked recessive fundus dystrophies and their carrier states
-
Bird AC, Blach RK. X-linked recessive fundus dystrophies and their carrier states. Trans Ophthalmol Soc U K 1970; 90:127-138.
-
(1970)
Trans Ophthalmol Soc U K
, vol.90
, pp. 127-138
-
-
Bird, A.C.1
Blach, R.K.2
-
84
-
-
0015470279
-
Clinical and electrophysiological observations on genetic carriers of retinitis pigmentosa in a family (pedigree Tt) showing sex-linked inheritance
-
Imaizumi K, Takahashi R, Tazawa Y, et al. Clinical and electrophysiological observations on genetic carriers of retinitis pigmentosa in a family (pedigree Tt) showing sex-linked inheritance. Adv Exp Med Biol 1972; 24:301-307.
-
(1972)
Adv Exp Med Biol
, vol.24
, pp. 301-307
-
-
Imaizumi, K.1
Takahashi, R.2
Tazawa, Y.3
-
85
-
-
0018381442
-
Electroretinographic testing as an aid in detection of carriers of X-chromosome-linked retinitis pigmentosa
-
Berson EL, Rosen JB, Simonoff EA. Electroretinographic testing as an aid in detection of carriers of X-chromosome-linked retinitis pigmentosa. Am J Ophthalmol 1979; 87:460-468.
-
(1979)
Am J Ophthalmol
, vol.87
, pp. 460-468
-
-
Berson, E.L.1
Rosen, J.B.2
Simonoff, E.A.3
-
87
-
-
0036188625
-
Detection using the multifocal electroretinogram of mosaic retinal dysfunction in carriers of X-linked retinitis pigmentosa
-
Vajaranant TS, Seiple W, Szlyk JP, Fishman GA. Detection using the multifocal electroretinogram of mosaic retinal dysfunction in carriers of X-linked retinitis pigmentosa. Ophthalmology 2002; 109:560-568.
-
(2002)
Ophthalmology
, vol.109
, pp. 560-568
-
-
Vajaranant, T.S.1
Seiple, W.2
Szlyk, J.P.3
Fishman, G.A.4
-
88
-
-
3543044979
-
Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data
-
Wegscheider E, Preising MN, Lorenz B. Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data. Graefes Arch Clin Exp Ophthalmol 2004; 242:501-511.
-
(2004)
Graefes Arch Clin Exp Ophthalmol
, vol.242
, pp. 501-511
-
-
Wegscheider, E.1
Preising, M.N.2
Lorenz, B.3
-
89
-
-
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
-
90
-
-
34249866185
-
A nonancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa
-
Banin E, Mizrahi-Meissonnier L, Neis R, et al. A nonancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. Am J Med Genet A 2007; 143A:1150-1158.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 1150-1158
-
-
Banin, E.1
Mizrahi-Meissonnier, L.2
Neis, R.3
-
91
-
-
0036247905
-
Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene
-
Rozet JM, Perrault I, Gigarel N, et al. Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene. J Med Genet 2002; 39:284-285.
-
(2002)
J Med Genet
, vol.39
, pp. 284-285
-
-
Rozet, J.M.1
Perrault, I.2
Gigarel, N.3
-
92
-
-
62549130245
-
Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene
-
Al-Maskari A, O'Grady A, Pal B, McKibbin M. Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene. Eye (Lond) 2009; 23:519-521.
-
(2009)
Eye (Lond)
, vol.23
, pp. 519-521
-
-
Al-Maskari, A.1
O'Grady, A.2
Pal, B.3
McKibbin, M.4
-
93
-
-
78049308239
-
Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa
-
Pomares E, Riera M, Castro-Navarro J, et al. Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci 2009; 50:5107-5114.
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, pp. 5107-5114
-
-
Pomares, E.1
Riera, M.2
Castro-Navarro, J.3
-
94
-
-
15644362762
-
Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene
-
Jacobson SG, Buraczynska M, Milam AH, et al. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. Invest Ophthalmol Vis Sci 1997; 38:1983-1997.
-
(1997)
Invest Ophthalmol Vis Sci
, vol.38
, pp. 1983-1997
-
-
Jacobson, S.G.1
Buraczynska, M.2
Milam, A.H.3
-
95
-
-
0021948505
-
Retinal histopathology of a carrier of X-chromosomelinked retinitis pigmentosa
-
Szamier RB, Berson EL. Retinal histopathology of a carrier of X-chromosomelinked retinitis pigmentosa. Ophthalmology 1985; 92:271-278.
-
(1985)
Ophthalmology
, vol.92
, pp. 271-278
-
-
Szamier, R.B.1
Berson, E.L.2
-
96
-
-
0036032865
-
Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.
-
Aguirre GD, Yashar BM, John SK, et al. Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15. Exp Eye Res 2002; 75:431-443.
-
(2002)
Exp Eye Res
, vol.75
, pp. 431-443
-
-
Aguirre, G.D.1
Yashar, B.M.2
John, S.K.3
-
97
-
-
33748869718
-
Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene
-
Adamian M, Pawlyk BS, Hong DH, Berson EL. Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene. Am J Ophthalmol 2006; 142:515-518.
-
(2006)
Am J Ophthalmol
, vol.142
, pp. 515-518
-
-
Adamian, M.1
Pawlyk, B.S.2
Hong, D.H.3
Berson, E.L.4
-
98
-
-
17344374015
-
OA1 mutations and deletions in X-linked ocular albinism
-
Schnur RE, Gao M, Wick PA, et al. OA1 mutations and deletions in X-linked ocular albinism. Am J Hum Genet 1998; 62:800-809.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 800-809
-
-
Schnur, R.E.1
Gao, M.2
Wick, P.A.3
-
99
-
-
0034642294
-
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1
-
d'Addio M, Pizzigoni A, Bassi MT, et al. Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. Hum Mol Genet 2000; 9:3011-3018.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 3011-3018
-
-
D'Addio, M.1
Pizzigoni, A.2
Bassi, M.T.3
-
100
-
-
0036162139
-
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene
-
Oetting WS. New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. Hum Mutat 2002; 19:85-92.
-
(2002)
Hum Mutat
, vol.19
, pp. 85-92
-
-
Oetting, W.S.1
-
101
-
-
0028022094
-
Molecular genetics of oculocutaneous albinism
-
SpecNo
-
Spritz RA. Molecular genetics of oculocutaneous albinism. Hum Mol Genet 1994; 3 Spec No:1469-1475.
-
(1994)
Hum Mol Genet
, pp. 1469-1475
-
-
Spritz, R.A.1
-
102
-
-
0029059066
-
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
-
Bassi MT, Schiaffino MV, Renieri A, et al. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet 1995; 10:13-19.
-
(1995)
Nat Genet
, vol.10
, pp. 13-19
-
-
Bassi, M.T.1
Schiaffino, M.V.2
Renieri, A.3
-
103
-
-
0017826072
-
Autosomal recessively inherited ocular albinism A new form of ocular albinism affecting females as severely as males
-
O'Donnell FE Jr, King RA, Green WR, Witkop CJ Jr. Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males. Arch Ophthalmol 1978; 96:1621-1625.
-
(1978)
Arch Ophthalmol
, vol.96
, pp. 1621-1625
-
-
O'Donnell Jr., F.E.1
King, R.A.2
Green, W.R.3
Witkop Jr., C.J.4
-
104
-
-
0037251394
-
Configuration of the optic chiasm in humans with albinism as revealed by magnetic resonance imaging
-
Schmitz B, Schaefer T, Krick CM, et al. Configuration of the optic chiasm in humans with albinism as revealed by magnetic resonance imaging. Invest Ophthalmol Vis Sci 2003; 44:16-21.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 16-21
-
-
Schmitz, B.1
Schaefer, T.2
Krick, C.M.3
-
105
-
-
21344452528
-
Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene
-
Lauronen L, Jalkanen R, Huttunen J, et al. Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene. Br J Ophthalmol 2005; 89:820-824.
-
(2005)
Br J Ophthalmol
, vol.89
, pp. 820-824
-
-
Lauronen, L.1
Jalkanen, R.2
Huttunen, J.3
-
106
-
-
0034293258
-
Comparison of techniques for detecting visually evoked potential asymmetry in albinism
-
Soong F, Levin AV, Westall CA. Comparison of techniques for detecting visually evoked potential asymmetry in albinism. J AAPOS 2000; 4:302-310.
-
(2000)
J AAPOS
, vol.4
, pp. 302-310
-
-
Soong, F.1
Levin, A.V.2
Westall, C.A.3
-
107
-
-
32944460376
-
Misrouting of the optic nerves in albinism: Estimation of the extent with visual evoked potentials
-
Hoffmann MB, Lorenz B, Morland AB, Schmidtborn LC. Misrouting of the optic nerves in albinism: Estimation of the extent with visual evoked potentials. Invest Ophthalmol Vis Sci 2005; 46:3892-3898.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 3892-3898
-
-
Hoffmann, M.B.1
Lorenz, B.2
Morland, A.B.3
Schmidtborn, L.C.4
-
108
-
-
0035511532
-
Subnormal visual acuity syndromes (SVAS): Albinism in Swedish 12-13-year-old children
-
Sjostrom A, Kraemer M, Ohlsson J, Villarreal G. Subnormal visual acuity syndromes (SVAS): Albinism in Swedish 12-13-year-old children. Doc Ophthalmol 2001; 103:35-46.
-
(2001)
Doc Ophthalmol
, vol.103
, pp. 35-46
-
-
Sjostrom, A.1
Kraemer, M.2
Ohlsson, J.3
Villarreal, G.4
-
110
-
-
0026755863
-
Ocular motility anomalies in developmental misdirection of the optic chiasm
-
Kriss T, Harris C, Lambert SR. Ocular motility anomalies in developmental misdirection of the optic chiasm. Am J Ophthalmol 1992; 113:601-603.
-
(1992)
Am J Ophthalmol
, vol.113
, pp. 601-603
-
-
Kriss, T.1
Harris, C.2
Lambert, S.R.3
-
111
-
-
0002432846
-
The electroretinogram in albinos and carriers of the ocular albino trait
-
Krill AE, Lee GB. The electroretinogram in albinos and carriers of the ocular albino trait. Arch Ophthalmol 1963; 69:32-38.
-
(1963)
Arch Ophthalmol
, vol.69
, pp. 32-38
-
-
Krill, A.E.1
Lee, G.B.2
-
113
-
-
0035010990
-
X-linked ocular albinism (Nettleship- Falls): A novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis
-
Rudolph G, Meindl A, Bechmann M, et al. X-linked ocular albinism (Nettleship- Falls): A novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis. Graefes Arch Clin Exp Ophthalmol 2001; 239:167-172.
-
(2001)
Graefes Arch Clin Exp Ophthalmol
, vol.239
, pp. 167-172
-
-
Rudolph, G.1
Meindl, A.2
Bechmann, M.3
-
115
-
-
84907115149
-
X-linked ocular albinism characteristic pattern of affection in female carriers
-
Lang GE, Rott HD, Pfeiffer RA. X-linked ocular albinism. Characteristic pattern of affection in female carriers. Ophthalmic Paediatr Genet 1990; 11:265-271.
-
(1990)
Ophthalmic Paediatr Genet
, vol.11
, pp. 265-271
-
-
Lang, G.E.1
Rott, H.D.2
Pfeiffer, R.A.3
-
116
-
-
0027233787
-
Clinical features of affected males with X linked ocular albinism
-
Charles SJ,Green JS, Grant JW, et al. Clinical features of affected males with X linked ocular albinism. Br J Ophthalmol 1993; 77:222-227.
-
(1993)
Br J Ophthalmol
, vol.77
, pp. 222-227
-
-
Charles, S.J.1
Green, J.S.2
Grant, J.W.3
-
117
-
-
0002286027
-
Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote
-
Falls HF. Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote. Am J Ophthalmol 1951; 34:41-50.
-
(1951)
Am J Ophthalmol
, vol.34
, pp. 41-50
-
-
Falls, H.F.1
-
118
-
-
84877716733
-
Morphogenetic model for radial streaking in the fundus of the carrier state of X-linked albinism
-
Moshiri A, Scholl HP, Canto-Soler MV, Goldberg MF. Morphogenetic model for radial streaking in the fundus of the carrier state of X-linked albinism. JAMA Ophthalmol 2013; 131:691-693.
-
(2013)
JAMA Ophthalmol
, vol.131
, pp. 691-693
-
-
Moshiri, A.1
Scholl, H.P.2
Canto-Soler, M.V.3
Goldberg, M.F.4
-
120
-
-
0015315475
-
Nystagmus in a female carrier of ocular albinism
-
Pearce WG, Johnson GJ, Gillan JG. Nystagmus in a female carrier of ocular albinism. J Med Genet 1972; 9:126-129.
-
(1972)
J Med Genet
, vol.9
, pp. 126-129
-
-
Pearce, W.G.1
Johnson, G.J.2
Gillan, J.G.3
-
123
-
-
0015106895
-
Familial exudative vitreoretinopathy. An expanded view
-
Gow J, Oliver GL. Familial exudative vitreoretinopathy. an expanded view. Arch Ophthalmol 1971; 86:150-155.
-
(1971)
Arch Ophthalmol
, vol.86
, pp. 150-155
-
-
Gow, J.1
Oliver, G.L.2
-
124
-
-
0028077215
-
Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene
-
Joos KM, Kimura AE, Vandenburgh K, et al. Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene. Arch Ophthalmol 1994; 112:1574-1579.
-
(1994)
Arch Ophthalmol
, vol.112
, pp. 1574-1579
-
-
Joos, K.M.1
Kimura, A.E.2
Vandenburgh, K.3
-
125
-
-
0032745431
-
Norrie disease and exudative vitreoretinopathy in families with affected female carriers
-
Shastry BS, Hiraoka M, Trese DC, Trese MT. Norrie disease and exudative vitreoretinopathy in families with affected female carriers. Eur J Ophthalmol 1999; 9:238-242.
-
(1999)
Eur J Ophthalmol
, vol.9
, pp. 238-242
-
-
Shastry, B.S.1
Hiraoka, M.2
Trese, D.C.3
Trese, M.T.4
-
126
-
-
77749273702
-
Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c. 268delC) that caused severe Norrie disease in the proband
-
Lin P, Shankar SP, Duncan J, et al. Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c. 268delC) that caused severe Norrie disease in the proband. J AAPOS 2010; 14:93-96.
-
(2010)
J AAPOS
, vol.14
, pp. 93-96
-
-
Lin, P.1
Shankar, S.P.2
Duncan, J.3
-
127
-
-
0017044254
-
Lowe's syndrome: Identification of carriers by lens examination
-
Gardner RJ, Brown N. Lowe's syndrome: Identification of carriers by lens examination. J Med Genet 1976; 13:449-454.
-
(1976)
J Med Genet
, vol.13
, pp. 449-454
-
-
Gardner, R.J.1
Brown, N.2
-
129
-
-
0032608436
-
Molecular confirmation of carriers for Lowe syndrome
-
Lin T, Lewis RA, Nussbaum RL. Molecular confirmation of carriers for Lowe syndrome. Ophthalmology 1999; 106:119-122.
-
(1999)
Ophthalmology
, vol.106
, pp. 119-122
-
-
Lin, T.1
Lewis, R.A.2
Nussbaum, R.L.3
-
130
-
-
18144432452
-
Carrier assessment in families with Lowe oculocerebrorenal syndrome: Novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination
-
Roschinger W, Muntau AC, Rudolph G, et al. Carrier assessment in families with Lowe oculocerebrorenal syndrome: Novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Mol Genet Metab 2000; 69:213-222.
-
(2000)
Mol Genet Metab
, vol.69
, pp. 213-222
-
-
Roschinger, W.1
Muntau, A.C.2
Rudolph, G.3
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