340 related articles for article (PubMed ID: 23449718)
1. Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.
Beryozkin A; Zelinger L; Bandah-Rozenfeld D; Harel A; Strom TA; Merin S; Chowers I; Banin E; Sharon D
Invest Ophthalmol Vis Sci; 2013 Mar; 54(3):2068-75. PubMed ID: 23449718
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
Bandah-Rozenfeld D; Littink KW; Ben-Yosef T; Strom TM; Chowers I; Collin RW; den Hollander AI; van den Born LI; Zonneveld MN; Merin S; Banin E; Cremers FP; Sharon D
Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4387-94. PubMed ID: 20375346
[TBL] [Abstract][Full Text] [Related]
4. CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.
Yzer S; Fishman GA; Racine J; Al-Zuhaibi S; Chakor H; Dorfman A; Szlyk J; Lachapelle P; van den Born LI; Allikmets R; Lopez I; Cremers FP; Koenekoop RK
Invest Ophthalmol Vis Sci; 2006 Sep; 47(9):3736-44. PubMed ID: 16936081
[TBL] [Abstract][Full Text] [Related]
5. Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
Vallespin E; Cantalapiedra D; Riveiro-Alvarez R; Wilke R; Aguirre-Lamban J; Avila-Fernandez A; Lopez-Martinez MA; Gimenez A; Trujillo-Tiebas MJ; Ramos C; Ayuso C
Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5653-61. PubMed ID: 18055816
[TBL] [Abstract][Full Text] [Related]
6. CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis.
McMahon TT; Kim LS; Fishman GA; Stone EM; Zhao XC; Yee RW; Malicki J
Invest Ophthalmol Vis Sci; 2009 Jul; 50(7):3185-7. PubMed ID: 19407021
[TBL] [Abstract][Full Text] [Related]
7. An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
Henderson RH; Waseem N; Searle R; van der Spuy J; Russell-Eggitt I; Bhattacharya SS; Thompson DA; Holder GE; Cheetham ME; Webster AR; Moore AT
Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5684-9. PubMed ID: 18055820
[TBL] [Abstract][Full Text] [Related]
8. CRB1 mutation spectrum in inherited retinal dystrophies.
den Hollander AI; Davis J; van der Velde-Visser SD; Zonneveld MN; Pierrottet CO; Koenekoop RK; Kellner U; van den Born LI; Heckenlively JR; Hoyng CB; Handford PA; Roepman R; Cremers FP
Hum Mutat; 2004 Nov; 24(5):355-69. PubMed ID: 15459956
[TBL] [Abstract][Full Text] [Related]
9. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
Yzer S; Leroy BP; De Baere E; de Ravel TJ; Zonneveld MN; Voesenek K; Kellner U; Ciriano JP; de Faber JT; Rohrschneider K; Roepman R; den Hollander AI; Cruysberg JR; Meire F; Casteels I; van Moll-Ramirez NG; Allikmets R; van den Born LI; Cremers FP
Invest Ophthalmol Vis Sci; 2006 Mar; 47(3):1167-76. PubMed ID: 16505055
[TBL] [Abstract][Full Text] [Related]
10. Clinical phenotypes in carriers of Leber congenital amaurosis mutations.
Galvin JA; Fishman GA; Stone EM; Koenekoop RK
Ophthalmology; 2005 Feb; 112(2):349-56. PubMed ID: 15691574
[TBL] [Abstract][Full Text] [Related]
11. Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
Booij JC; Florijn RJ; ten Brink JB; Loves W; Meire F; van Schooneveld MJ; de Jong PT; Bergen AA
J Med Genet; 2005 Nov; 42(11):e67. PubMed ID: 16272259
[TBL] [Abstract][Full Text] [Related]
12. Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.
Li S; Shen T; Xiao X; Guo X; Zhang Q
Int J Mol Med; 2014 Apr; 33(4):913-8. PubMed ID: 24535598
[TBL] [Abstract][Full Text] [Related]
13. Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy.
Jalkh N; Guissart C; Chouery E; Yammine T; El Ali N; Farah HA; Mégarbané A
Ophthalmic Genet; 2014 Mar; 35(1):57-62. PubMed ID: 23362850
[TBL] [Abstract][Full Text] [Related]
14. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
Srilekha S; Arokiasamy T; Srikrupa NN; Umashankar V; Meenakshi S; Sen P; Kapur S; Soumittra N
PLoS One; 2015; 10(7):e0131679. PubMed ID: 26147992
[TBL] [Abstract][Full Text] [Related]
15. A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
Abouzeid H; Li Y; Maumenee IH; Dharmaraj S; Sundin O
Ophthalmic Genet; 2006 Mar; 27(1):15-20. PubMed ID: 16543197
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
Zelinger L; Cideciyan AV; Kohl S; Schwartz SB; Rosenmann A; Eli D; Sumaroka A; Roman AJ; Luo X; Brown C; Rosin B; Blumenfeld A; Wissinger B; Jacobson SG; Banin E; Sharon D
Ophthalmology; 2015 May; 122(5):997-1007. PubMed ID: 25616768
[TBL] [Abstract][Full Text] [Related]
18. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
den Hollander AI; Lopez I; Yzer S; Zonneveld MN; Janssen IM; Strom TM; Hehir-Kwa JY; Veltman JA; Arends ML; Meitinger T; Musarella MA; van den Born LI; Fishman GA; Maumenee IH; Rohrschneider K; Cremers FP; Koenekoop RK
Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5690-8. PubMed ID: 18055821
[TBL] [Abstract][Full Text] [Related]
19. A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
Littink KW; Pott JW; Collin RW; Kroes HY; Verheij JB; Blokland EA; de Castro Miró M; Hoyng CB; Klaver CC; Koenekoop RK; Rohrschneider K; Cremers FP; van den Born LI; den Hollander AI
Invest Ophthalmol Vis Sci; 2010 Jul; 51(7):3646-52. PubMed ID: 20130272
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
