192 related articles for article (PubMed ID: 24945461)
1. Novel recessive cone-rod dystrophy caused by POC1B mutation.
Durlu YK; Köroğlu Ç; Tolun A
JAMA Ophthalmol; 2014 Oct; 132(10):1185-91. PubMed ID: 24945461
[TBL] [Abstract][Full Text] [Related]
2. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
Khan AO; Aldahmesh MA; Abu-Safieh L; Alkuraya FS
Ophthalmic Genet; 2014 Sep; 35(3):130-7. PubMed ID: 23767994
[TBL] [Abstract][Full Text] [Related]
3. Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract.
El-Haig WM; Jakobsson C; Favez T; Schorderet DF; Abouzeid H
Br J Ophthalmol; 2014 Dec; 98(12):1718-23. PubMed ID: 25091951
[TBL] [Abstract][Full Text] [Related]
4. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
Roosing S; van den Born LI; Hoyng CB; Thiadens AA; de Baere E; Collin RW; Koenekoop RK; Leroy BP; van Moll-Ramirez N; Venselaar H; Riemslag FC; Cremers FP; Klaver CC; den Hollander AI
Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
[TBL] [Abstract][Full Text] [Related]
5. Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.
Zelinger L; Wissinger B; Eli D; Kohl S; Sharon D; Banin E
Ophthalmology; 2013 Nov; 120(11):2338-43. PubMed ID: 23725738
[TBL] [Abstract][Full Text] [Related]
6. Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.
Ksantini M; Lafont E; Bocquet B; Meunier I; Hamel CP
Eur J Ophthalmol; 2012; 22(4):647-53. PubMed ID: 22180149
[TBL] [Abstract][Full Text] [Related]
7. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
Maubaret CG; Vaclavik V; Mukhopadhyay R; Waseem NH; Churchill A; Holder GE; Moore AT; Bhattacharya SS; Webster AR
Invest Ophthalmol Vis Sci; 2011 Dec; 52(13):9304-9. PubMed ID: 22039234
[TBL] [Abstract][Full Text] [Related]
8. Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.
Ritter M; Vodopiutz J; Lechner S; Moser E; Schmidt-Erfurth UM; Janecke AR
Br J Ophthalmol; 2013 Feb; 97(2):169-73. PubMed ID: 23143909
[TBL] [Abstract][Full Text] [Related]
9. Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
den Hollander AI; van Lith-Verhoeven JJ; Arends ML; Strom TM; Cremers FP; Hoyng CB
Arch Ophthalmol; 2007 Jul; 125(7):932-5. PubMed ID: 17620573
[TBL] [Abstract][Full Text] [Related]
10. A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.
Cohen B; Chervinsky E; Jabaly-Habib H; Shalev SA; Briscoe D; Ben-Yosef T
Mol Vis; 2012; 18():2915-21. PubMed ID: 23233793
[TBL] [Abstract][Full Text] [Related]
11. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
Jacobson SG; Buraczynska M; Milam AH; Chen C; Järvaläinen M; Fujita R; Wu W; Huang Y; Cideciyan AV; Swaroop A
Invest Ophthalmol Vis Sci; 1997 Sep; 38(10):1983-97. PubMed ID: 9331262
[TBL] [Abstract][Full Text] [Related]
12. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
Fishman GA; Grover S; Jacobson SG; Alexander KR; Derlacki DJ; Wu W; Buraczynska M; Swaroop A
Ophthalmology; 1998 Dec; 105(12):2286-96. PubMed ID: 9855162
[TBL] [Abstract][Full Text] [Related]
13. A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
Audo I; Bujakowska K; Mohand-Saïd S; Tronche S; Lancelot ME; Antonio A; Germain A; Lonjou C; Carpentier W; Sahel JA; Bhattacharya S; Zeitz C
Mol Vis; 2011; 17():1598-606. PubMed ID: 21738389
[TBL] [Abstract][Full Text] [Related]
14. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.
Michaelides M; Wilkie SE; Jenkins S; Holder GE; Hunt DM; Moore AT; Webster AR
Ophthalmology; 2005 Aug; 112(8):1442-7. PubMed ID: 15953638
[TBL] [Abstract][Full Text] [Related]
15. Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.
Kameya S; Fujinami K; Ueno S; Hayashi T; Kuniyoshi K; Ideta R; Kikuchi S; Kubota D; Yoshitake K; Katagiri S; Sakuramoto H; Kominami T; Terasaki H; Yang L; Fujinami-Yokokawa Y; Liu X; Arno G; Pontikos N; Miyake Y; Iwata T; Tsunoda K;
Invest Ophthalmol Vis Sci; 2019 Aug; 60(10):3432-3446. PubMed ID: 31390656
[TBL] [Abstract][Full Text] [Related]
16. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
Littink KW; van den Born LI; Koenekoop RK; Collin RW; Zonneveld MN; Blokland EA; Khan H; Theelen T; Hoyng CB; Cremers FP; den Hollander AI; Klevering BJ
Ophthalmology; 2010 Oct; 117(10):2026-33, 2033.e1-7. PubMed ID: 20537394
[TBL] [Abstract][Full Text] [Related]
17. Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.
Yang P; Chiang PW; Weleber RG; Pennesi ME
JAMA Ophthalmol; 2015 Jun; 133(6):653-61. PubMed ID: 25789692
[TBL] [Abstract][Full Text] [Related]
18. RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
Davidson AE; Sergouniotis PI; Mackay DS; Wright GA; Waseem NH; Michaelides M; Holder GE; Robson AG; Moore AT; Plagnol V; Webster AR
Hum Mutat; 2013 Mar; 34(3):506-14. PubMed ID: 23281133
[TBL] [Abstract][Full Text] [Related]
19. A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene.
Zhang Q; Zulfiqar F; Riazuddin SA; Xiao X; Yasmeen A; Rogan PK; Caruso R; Sieving PA; Riazuddin S; Hejtmancik JF
Mol Vis; 2005 Nov; 11():977-85. PubMed ID: 16319817
[TBL] [Abstract][Full Text] [Related]
20. Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.
van Huet RA; Estrada-Cuzcano A; Banin E; Rotenstreich Y; Hipp S; Kohl S; Hoyng CB; den Hollander AI; Collin RW; Klevering BJ
Invest Ophthalmol Vis Sci; 2013 Jul; 54(7):4683-90. PubMed ID: 23788369
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
