346 related articles for article (PubMed ID: 23233793)
1. 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]
2. An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.
Eidinger O; Leibu R; Newman H; Rizel L; Perlman I; Ben-Yosef T
Mol Vis; 2015; 21():1295-306. PubMed ID: 26702251
[TBL] [Abstract][Full Text] [Related]
3. Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.
Nikopoulos K; Avila-Fernandez A; Corton M; Lopez-Molina MI; Perez-Carro R; Bontadelli L; Di Gioia SA; Zurita O; Garcia-Sandoval B; Rivolta C; Ayuso C
Sci Rep; 2015 Sep; 5():13902. PubMed ID: 26350383
[TBL] [Abstract][Full Text] [Related]
4. A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.
Abbasi AH; Garzozi HJ; Ben-Yosef T
Mol Vis; 2008 Apr; 14():675-82. PubMed ID: 18432314
[TBL] [Abstract][Full Text] [Related]
5. Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.
Duncan JL; Roorda A; Navani M; Vishweswaraiah S; Syed R; Soudry S; Ratnam K; Gudiseva HV; Lee P; Gaasterland T; Ayyagari R
Arch Ophthalmol; 2012 Oct; 130(10):1301-8. PubMed ID: 23044944
[TBL] [Abstract][Full Text] [Related]
6. A rare case of
Mermeklieva E; Kamenarova K; Mihova K; Shakola F; Kaneva R
Ophthalmic Genet; 2021 Dec; 42(6):747-752. PubMed ID: 34229535
[TBL] [Abstract][Full Text] [Related]
7. Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
Beryozkin A; Zelinger L; Bandah-Rozenfeld D; Shevach E; Harel A; Storm T; Sagi M; Eli D; Merin S; Banin E; Sharon D
Invest Ophthalmol Vis Sci; 2014 Feb; 55(2):1149-60. PubMed ID: 24474277
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature.
Bessette AP; DeBenedictis MJ; Traboulsi EI
Ophthalmic Genet; 2018; 39(1):51-55. PubMed ID: 28885867
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.
Dvir L; Srour G; Abu-Ras R; Miller B; Shalev SA; Ben-Yosef T
Am J Hum Genet; 2010 Aug; 87(2):258-64. PubMed ID: 20655036
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
Lazar CH; Mutsuddi M; Kimchi A; Zelinger L; Mizrahi-Meissonnier L; Marks-Ohana D; Boleda A; Ratnapriya R; Sharon D; Swaroop A; Banin E
Invest Ophthalmol Vis Sci; 2014 Dec; 56(1):420-30. PubMed ID: 25515582
[TBL] [Abstract][Full Text] [Related]
14. CDHR1 mutations in retinal dystrophies.
Stingl K; Mayer AK; Llavona P; Mulahasanovic L; Rudolph G; Jacobson SG; Zrenner E; Kohl S; Wissinger B; Weisschuh N
Sci Rep; 2017 Aug; 7(1):6992. PubMed ID: 28765526
[TBL] [Abstract][Full Text] [Related]
15. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
Khan SY; Ali S; Naeem MA; Khan SN; Husnain T; Butt NH; Qazi ZA; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
Mol Vis; 2015; 21():871-82. PubMed ID: 26321862
[TBL] [Abstract][Full Text] [Related]
16. Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.
Arno G; Hull S; Carss K; Dev-Borman A; Chakarova C; Bujakowska K; van den Born LI; Robson AG; Holder GE; Michaelides M; Cremers FP; Pierce E; Raymond FL; Moore AT; Webster AR
Invest Ophthalmol Vis Sci; 2016 Sep; 57(11):4806-13. PubMed ID: 27623334
[TBL] [Abstract][Full Text] [Related]
17. Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.
Mayer AK; Mahajnah M; Zobor D; Bonin M; Sharkia R; Wissinger B
Mol Vis; 2015; 21():306-15. PubMed ID: 25814828
[TBL] [Abstract][Full Text] [Related]
18. Progressive cone dystrophy associated with mutation in CNGB3.
Michaelides M; Aligianis IA; Ainsworth JR; Good P; Mollon JD; Maher ER; Moore AT; Hunt DM
Invest Ophthalmol Vis Sci; 2004 Jun; 45(6):1975-82. PubMed ID: 15161866
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Clinical characteristics of early retinal disease due to CDHR1 mutation.
Ba-Abbad R; Sergouniotis PI; Plagnol V; Robson AG; Michaelides M; Holder GE; Webster AR
Mol Vis; 2013; 19():2250-9. PubMed ID: 24265541
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]