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Items: 1 to 20 of 37

1.

Visual phenotype in patients with Arg41Gln and ala196+1bp mutations in the CRX gene.

Tzekov RT, Sohocki MM, Daiger SP, Birch DG.

Ophthalmic Genet. 2000 Jun;21(2):89-99.

PMID:
10916183
2.

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, Birch DG, Heckenlively JR, Daiger SP.

Mol Genet Metab. 2000 Jun;70(2):142-50.

PMID:
10873396
3.

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

Sohocki MM, Bowne SJ, Sullivan LS, Blackshaw S, Cepko CL, Payne AM, Bhattacharya SS, Khaliq S, Qasim Mehdi S, Birch DG, Harrison WR, Elder FF, Heckenlively JR, Daiger SP.

Nat Genet. 2000 Jan;24(1):79-83.

4.

Retinitis pigmentosa: rod photoreceptor rescue by a calcium-channel blocker in the rd mouse.

Frasson M, Sahel JA, Fabre M, Simonutti M, Dreyfus H, Picaud S.

Nat Med. 1999 Oct;5(10):1183-7.

PMID:
10502823
5.

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

Bowne SJ, Daiger SP, Hims MM, Sohocki MM, Malone KA, McKie AB, Heckenlively JR, Birch DG, Inglehearn CF, Bhattacharya SS, Bird A, Sullivan LS.

Hum Mol Genet. 1999 Oct;8(11):2121-8.

6.

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.

Sullivan LS, Heckenlively JR, Bowne SJ, Zuo J, Hide WA, Gal A, Denton M, Inglehearn CF, Blanton SH, Daiger SP.

Nat Genet. 1999 Jul;22(3):255-9.

7.

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.

Nat Genet. 1999 Jul;22(3):248-54.

PMID:
10391211
8.

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

Sohocki MM, Sullivan LS, Mintz-Hittner HA, Birch D, Heckenlively JR, Freund CL, McInnes RR, Daiger SP.

Am J Hum Genet. 1998 Nov;63(5):1307-15.

9.

Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa.

Lewin AS, Drenser KA, Hauswirth WW, Nishikawa S, Yasumura D, Flannery JG, LaVail MM.

Nat Med. 1998 Aug;4(8):967-71. Erratum in: Nat Med 1998 Sep;4(9):1081.

PMID:
9701253
10.

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, Brady KD, Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA, Zack DJ.

Neuron. 1997 Dec;19(6):1329-36.

11.

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.

Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick JA, Duncan A, Scherer SW, Tsui LC, Loutradis-Anagnostou A, Jacobson SG, Cepko CL, Bhattacharya SS, McInnes RR.

Cell. 1997 Nov 14;91(4):543-53.

12.

Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes.

Chen S, Wang QL, Nie Z, Sun H, Lennon G, Copeland NG, Gilbert DJ, Jenkins NA, Zack DJ.

Neuron. 1997 Nov;19(5):1017-30.

13.
14.

Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene.

Nakazawa M, Kikawa E, Chida Y, Wada Y, Shiono T, Tamai M.

Arch Ophthalmol. 1996 Jan;114(1):72-8.

PMID:
8540854
15.

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al.

Nat Genet. 1993 Mar;3(3):213-8.

PMID:
8485576
16.
17.

Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.

Macke JP, Davenport CM, Jacobson SG, Hennessey JC, Gonzalez-Fernandez F, Conway BP, Heckenlively J, Palmer R, Maumenee IH, Sieving P, et al.

Am J Hum Genet. 1993 Jul;53(1):80-9.

18.

Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene.

Wroblewski JJ, Wells JA 3rd, Eckstein A, Fitzke F, Jubb C, Keen TJ, Inglehearn C, Bhattacharya S, Arden GB, Jay M, et al.

Ophthalmology. 1994 Jan;101(1):12-22.

PMID:
8302543
19.
20.

Heterozygous 'null allele' mutation in the human peripherin/RDS gene.

Meins M, GrĂ¼ning G, Blankenagel A, Krastel H, Reck B, Fuchs S, Schwinger E, Gal A.

Hum Mol Genet. 1993 Dec;2(12):2181-2. No abstract available.

PMID:
8111389

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