SCOPUS 정보 검색 플랫폼

Volumn 68, Issue 5, 2001, Pages 1295-1298

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

(8) Dryja, Thaddeus P a Adams, Scott M a Grimsby, Jonna L a McGee, Terri L a Hong, Dong Hyun a Li, Tiansen a Andréasson, Sten a,b Berson, Eliot L a

a MASSACHUSETTS EYE AND EAR INFIRMARY (United States)

b LUND UNIVERSITY HOSPITAL (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; GENE PRODUCT; RPGR PROTEIN; RPGR1P1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CELL DEGENERATION; CHROMOSOME 14Q; CLINICAL ARTICLE; GENE; GENE LOCATION; GENE MUTATION; GENETIC CODE; HUMAN; LEBER CONGENITAL AMAUROSIS; NYSTAGMUS; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA CONE; RETINA ROD; RPGRIP1 GENE; STOP CODON; VISUAL ACUITY;

EID: 0035004268 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: 10.1086/320113 Document Type: Article

Times cited : (240)

References (19)

1
- 0023879597
- Narrowband filtering for monitoring low-amplitude cone electroretinograms in retinitis pigmentosa
- (1988) Am J Ophthalmol , vol.105 , pp. 500-503
- Andréasson, S.O.L.¹ Sandberg, M.A.² Berson, E.L.³

2
- 0021993263
- Natural course of retinitis pigmentosa over a three-year interval
- (1985) Am J Ophthalmol , vol.99 , pp. 240-251
- Berson, E.L.¹ Sandberg, M.A.² Rosner, B.³ Birch, D.G.⁴ Hanson, A.H.⁵

3
- 0034284501
- Identification of a novel protein interacting with RPGR
- (2000) Hum Mol Genet , vol.9 , pp. 2085-2093
- Boylan, J.P.¹ Wright, A.F.²

4
- 0033747042
- Mutational analysis and clinical correlation in Leber congenital amaurosis
- (2000) Ophthalmic Genet , vol.21 , pp. 135-150
- Dharmaraj, S.¹ Silva, E.² Pina, A.L.³ Li, Y.Y.⁴ Yang, J.-M.⁵ Carter, R.C.⁶ Loyer, M.⁷ El-Hilali, H.⁸ Traboulsi, E.⁹ Sundin, O.¹⁰ Zhu, D.¹¹ Koenekoop, R.K.¹² Maumenee, I.H.¹³

5
- 0032037626
- De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
- (1998) Nat Genet , vol.18 , pp. 311-312
- Freund, C.L.¹ Wang, Q.L.² Chen, S.M.³ Muskat, B.L.⁴ Wiles, C.D.⁵ Sheffield, V.C.⁶ Jacobson, S.G.⁷ McInnes, R.R.⁸ Zack, D.J.⁹ Stone, E.M.¹⁰

6
- 0035853834
- A retinitis pigmentosa GTPase regulator (RPGR)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium
- in press
- (2001) J Biol Chem
- Hong, D.-H.¹ Yue, G.² Adamian, M.³ Li, T.⁴

7
- 0031790083
- Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene
- (1998) Invest Ophthalmol Vis Sci , vol.39 , pp. 2417-2426
- Jacobson, S.G.¹ Cideciyan, A.V.² Huang, Y.³ Hanna, D.B.⁴ Freund, C.L.⁵ Affatigato, L.M.⁶ Carr, R.E.⁷ Zack, D.J.⁸ Stone, E.M.⁹ McInnes, R.R.¹⁰

8
- 0033573979
- The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase
- (1999) Proc Natl Acad Sci USA , vol.96 , pp. 1315-1320
- Linari, M.¹ Ueffing, M.² Manson, F.³ Wright, A.⁴ Meitinger, T.⁵ Becker, J.⁶

9
- 0034127482
- Mutation analysis of 3 genes in patients with Leber congenital amaurosis
- (2000) Arch Ophthalmol , vol.118 , pp. 538-543
- Lotery, A.J.¹ Namperumalsamy, P.² Jacobson, S.G.³ Weleber, R.G.⁴ Fishman, G.A.⁵ Musarella, M.A.⁶ Hoyt, C.S.⁷ Héon, E.⁸ Levin, A.⁹ Jan, J.¹⁰ Lam, B.¹¹ Carr, R.E.¹² Franklin, A.¹³ Radha, S.¹⁴ Andorf, J.L.¹⁵ Sheffield, V.C.¹⁶ Stone, E.M.¹⁷

10
- 0031252434
- Mutations in RPE65 cause Leber's congenital amaurosis
- (1997) Nat Genet , vol.17 , pp. 139-141
- Marlhens, F.¹ Bareil, C.² Griffoin, J.M.³ Zrenner, E.⁴ Amalric, P.⁵ Eliaou, C.⁶ Liu, S.Y.⁷ Harris, E.⁸ Redmond, T.M.⁹ Arnaud, B.¹⁰ Claustres, M.¹¹ Hamel, C.P.¹²

11
- 15844378213
- A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
- (1996) Nat Genet , vol.13 , pp. 35-42
- Meindl, A.¹ Dry, K.² Herrmann, K.³ Manson, F.⁴ Ciccodicola, A.⁵ Edgar, A.⁶ Carvalho, M.R.S.⁷ Achatz, H.⁸ Hellebrand, H.⁹ Lennon, A.¹⁰ Migliaccio, C.¹¹ Porter, K.¹² Zrenner, E.¹³ Bird, A.¹⁴ Jay, M.¹⁵ Lorenz, B.¹⁶ Wittwer, B.¹⁷ D'Urso, M.¹⁸ Meitinger, T.¹⁹ Wright, A.²⁰ more..

12
- 0032539851
- Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis
- (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
- 16144363583
- Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
- (1996) Nat Genet , vol.14 , pp. 461-464
- Perrault, I.¹ Rozet, J.M.² Calvas, P.³ Gerber, S.⁴ Camuzat, A.⁵ Dollfus, H.⁶ Châtelin, S.⁷ Souied, E.⁸ Ghazi, I.⁹ Leowski, C.¹⁰ Bonnemaison, M.¹¹ Le Paslier, D.¹² Frézal, J.¹³ Dufier, J.-L.¹⁴ Pittler, S.¹⁵ Munnich, A.¹⁶ Kaplan, J.¹⁷

14
- 0034284508
- The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photo-receptors
- (2000) Hum Mol Genet , vol.9 , pp. 2095-2105
- Roepman, R.¹ Bernoud-Hubac, N.² Schick, D.E.³ Maugeri, A.⁴ Berger, W.⁵ Ropers, H.H.⁶ Cremers, F.P.⁷ Ferreira, P.A.⁸

15
- 8944241311
- Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide exchange factor RCC1
- (1996) Hum Mol Genet , vol.5 , pp. 1035-1041
- Roepman, R.¹ Van Duijnhoven, G.² Rosenberg, T.³ Pinckers, A.J.L.G.⁴ Bleeker-Wagemakers, L.M.⁵ Bergen, A.A.B.⁶ Post, J.⁷ Beck, A.⁸ Reinhardt, R.⁹ Ropers, H.H.¹⁰ Cremers, F.P.M.¹¹ Berger, W.¹²

16
- 0033985972
- Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
- (2000) Nat Genet , vol.24 , pp. 79-83
- Sohocki, M.M.¹ Bowne, S.J.² Sullivan, L.S.³ Blackshaw, S.⁴ Cepko, C.L.⁵ Payne, A.M.⁶ Bhattacharya, S.S.⁷ Khaliq, S.⁸ Mehdi, S.Q.⁹ Birch, D.G.¹⁰ Harrison, W.R.¹¹ Elder, F.F.B.¹² Heckenlively, J.R.¹³ Daiger, S.P.¹⁴

17
- 0035162582
- Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies
- (2001) Hum Mutat , vol.17 , pp. 42-51
- Sohocki, M.M.¹ Daiger, S.P.² Bowne, S.J.³ Rodriquez, J.A.⁴ Northrup, H.⁵ Heckenlively, J.R.⁶ Birch, D.G.⁷ Mintz-Hittner, H.⁸ Ruiz, R.S.⁹ Lewis, R.A.¹⁰ Saperstein, D.A.¹¹ Sullivan, L.S.¹²

18
- 0032231603
- A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene
- (1998) Am J Hum Genet , vol.63 , pp. 1307-1315
- Sohocki, M.M.¹ Sullivan, L.S.² Mintz-Hittner, H.A.³ Birch, D.⁴ Heckenlively, J.R.⁵ Freund, C.L.⁶ McInnes, R.R.⁷ Daiger, S.P.⁸

19
- 0034425755
- Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa
- (2000) Nat Genet , vol.25 , pp. 462-466
- Vervoort, R.¹ Lennon, A.² Bird, A.C.³ Tulloch, B.⁴ Axton, R.⁵ Miano, M.G.⁶ Meindl, A.⁷ Meitinger, T.⁸ Ciccodicola, A.⁹ Wright, A.F.¹⁰

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.