-
1
-
-
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
-
2
-
-
67349162970
-
The functional effect of pathogenic mutations in Rab escort protein 1
-
Sergeev YV, Smaoui N, Sui R et al: The functional effect of pathogenic mutations in Rab escort protein 1. Mutat Res 2009; 665: 44-50
-
(2009)
Mutat Res
, vol.665
, pp. 44-50
-
-
Sergeev, Y.V.1
Smaoui, N.2
Sui, R.3
-
3
-
-
81255136935
-
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase
-
Esposito G, De Falco F, Tinto N et al: Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase. Hum Mutat 2011; 32: 1460-1469
-
(2011)
Hum Mutat
, vol.32
, pp. 1460-1469
-
-
Esposito, G.1
De Falco, F.2
Tinto, N.3
-
4
-
-
0025064847
-
Cloning of a gene that is rearranged in patients with choroideraemia
-
Cremers FP, van de Pol DJ, van Kerkhoff LP, Wieringa B, Ropers HH: Cloning of a gene that is rearranged in patients with choroideraemia. Nature 1990; 347: 674-677
-
(1990)
Nature
, vol.347
, pp. 674-677
-
-
Cremers, F.P.1
Van De Pol, D.J.2
Van Kerkhoff, L.P.3
Wieringa, B.4
Ropers, H.H.5
-
5
-
-
0028237921
-
Cloning and characterization of the human choroideremia gene
-
van Bokhoven H, van den Hurk JA, Bogerd L et al: Cloning and characterization of the human choroideremia gene. Hum Mol Genet 1994; 3: 1041-1046
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1041-1046
-
-
Van Bokhoven, H.1
Van Den Hurk, J.A.2
Bogerd, L.3
-
6
-
-
0033739359
-
Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation
-
Lorda-Sanchez IJ, Ibanez AJ, Sanz RJ et al: Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation. Ophthalmic Genet 2000; 21: 185-189
-
(2000)
Ophthalmic Genet
, vol.21
, pp. 185-189
-
-
Lorda-Sanchez, I.J.1
Ibanez, A.J.2
Sanz, R.J.3
-
7
-
-
78649233393
-
Choroideremia in a woman with ectodermal dysplasia and complex translocations involving chromosomes X 1, and 3
-
Mukkamala K, Gentile RC, Willner J, Tsang S: Choroideremia in a woman with ectodermal dysplasia and complex translocations involving chromosomes X, 1, and 3. Ophthalmic Genet 2010; 31: 178-182
-
(2010)
Ophthalmic Genet
, vol.31
, pp. 178-182
-
-
Mukkamala, K.1
Gentile, R.C.2
Willner, J.3
Tsang, S.4
-
8
-
-
84931340092
-
-
Choroideremia; in Pagon RA, Adam MP, Bird TD et al: (eds Seattle (WA): University of Washington, Seattlerfpy1 1993 Available from 21 Feb 2003 [Updated 3 June 2010].
-
MacDonald IM, Smaoui N, Seabra MC: Choroideremia; in Pagon RA, Adam MP, Bird TD et al: (eds). GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: Http://www.ncbi.nlm.nih.gov/ books/NBK1337/, 21 Feb 2003 [Updated 3 June 2010].
-
(2013)
GeneReviews
-
-
Macdonald, I.M.1
Smaoui, N.2
Seabra, M.C.3
-
9
-
-
84887920940
-
Copy number variant analysis in chm to detect duplications underlying choroideremia
-
E-pub Ahead Of Print 28 December 2012 doi:10.3109/13816810.2012.752016
-
Chi JY, Macdonald IM, Hume S: Copy number variant analysis in CHM to detect duplications underlying Choroideremia. Ophthalmic Genet 2012; e-pub ahead of print 28 December 2012; doi:10.3109/13816810.2012.752016
-
(2012)
Ophthalmic Genet
-
-
Chi, J.Y.1
Macdonald, I.M.2
Hume, S.3
-
10
-
-
0031732871
-
A practical diagnostic test for choroideremia
-
MacDonald IM, Mah DY, Ho YK, Lewis RA, Seabra MC: A practical diagnostic test for choroideremia. Ophthalmology 1998; 105: 1637-1640
-
(1998)
Ophthalmology
, vol.105
, pp. 1637-1640
-
-
Macdonald, I.M.1
Mah, D.Y.2
Ho, Y.K.3
Lewis, R.A.4
Seabra, M.C.5
-
11
-
-
80053050730
-
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement
-
Bowne SJ, Humphries MM, Sullivan LS et al: A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet 2011; 19: 1074-1081
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 1074-1081
-
-
Bowne, S.J.1
Humphries, M.M.2
Sullivan, L.S.3
-
12
-
-
24944547546
-
Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene
-
Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT: Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene. Ophthalmology 2005; 112: 1592-1598
-
(2005)
Ophthalmology
, vol.112
, pp. 1592-1598
-
-
Michaelides, M.1
Holder, G.E.2
Bradshaw, K.3
Hunt, D.M.4
Moore, A.T.5
-
13
-
-
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
-
14
-
-
34547876065
-
Clinical and functional findings in choroideremia due to complete deletion of the chm gene
-
Mura M, Sereda C, Jablonski MM, MacDonald IM, Iannaccone A: 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
Macdonald, I.M.4
Iannaccone, A.5
-
15
-
-
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
-
16
-
-
33750968223
-
Choroideremia: Variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram
-
Renner AB, Kellner U, Cropp E et al: Choroideremia: Variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram. Ophthalmology 2006; 113: 2066, e1-e10
-
(2006)
Ophthalmology
, vol.113
, Issue.2066
-
-
Renner, A.B.1
Kellner, U.2
Cropp, E.3
-
17
-
-
84858686208
-
CHM/REP1 cDNA delivery by lentiviral vectors provides functional expression of the transgene in the retinal pigment epithelium of choroideremia mice
-
Tolmachova T, Tolmachov OE, Wavre-Shapton ST, Tracey-White D, Futter CE, Seabra MC: CHM/REP1 cDNA delivery by lentiviral vectors provides functional expression of the transgene in the retinal pigment epithelium of choroideremia mice. J Gene Med 2012; 14: 158-168
-
(2012)
J Gene Med
, vol.14
, pp. 158-168
-
-
Tolmachova, T.1
Tolmachov, O.E.2
Wavre-Shapton, S.T.3
Tracey-White, D.4
Futter, C.E.5
Seabra, M.C.6
-
18
-
-
57049115353
-
Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease
-
Moosajee M, Gregory-Evans K, Ellis CD, Seabra MC, Gregory-Evans CY: Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease. Hum Mol Genet 2008; 17: 3987-4000
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3987-4000
-
-
Moosajee, M.1
Gregory-Evans, K.2
Ellis, C.D.3
Seabra, M.C.4
Gregory-Evans, C.Y.5
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