283 related articles for article (PubMed ID: 10615133)
1. 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. PubMed ID: 10615133
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 10873396
[TBL] [Abstract][Full Text] [Related]
3. A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.
Hameed A; Khaliq S; Ismail M; Anwar K; Ebenezer ND; Jordan T; Mehdi SQ; Payne AM; Bhattacharya SS
Invest Ophthalmol Vis Sci; 2000 Mar; 41(3):629-33. PubMed ID: 10711674
[TBL] [Abstract][Full Text] [Related]
4. Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p.
Damji KF; Sohocki MM; Khan R; Gupta SK; Rahim M; Loyer M; Hussein N; Karim N; Ladak SS; Jamal A; Bulman D; Koenekoop RK
Can J Ophthalmol; 2001 Aug; 36(5):252-9. PubMed ID: 11548141
[TBL] [Abstract][Full Text] [Related]
5. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
Perrault I; Rozet JM; Calvas P; Gerber S; Camuzat A; Dollfus H; Châtelin S; Souied E; Ghazi I; Leowski C; Bonnemaison M; Le Paslier D; Frézal J; Dufier JL; Pittler S; Munnich A; Kaplan J
Nat Genet; 1996 Dec; 14(4):461-4. PubMed ID: 8944027
[TBL] [Abstract][Full Text] [Related]
6. Mutational analysis and clinical correlation in Leber congenital amaurosis.
Dharmaraj SR; Silva ER; Pina AL; Li YY; Yang JM; Carter CR; Loyer MK; El-Hilali HK; Traboulsi EK; Sundin OK; Zhu DK; Koenekoop RK; Maumenee IH
Ophthalmic Genet; 2000 Sep; 21(3):135-50. PubMed ID: 11035546
[TBL] [Abstract][Full Text] [Related]
7. Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans.
Sohocki MM; Sullivan LS; Tirpak DL; Daiger SP
Mamm Genome; 2001 Jul; 12(7):566-8. PubMed ID: 11420621
[TBL] [Abstract][Full Text] [Related]
8. Four polymorphic variations in the PEDF gene identified during the mutation screening of patients with Leber congenital amaurosis.
Koenekoop R; Pina AL; Loyer M; Davidson J; Robitaille J; Maumenee I; Tombran-Tink J
Mol Vis; 1999 Jul; 5():10. PubMed ID: 10398730
[TBL] [Abstract][Full Text] [Related]
9. Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
Yücel-Yılmaz D; Tarlan B; Kıratlı H; Ozgül RK
DNA Cell Biol; 2014 Dec; 33(12):876-83. PubMed ID: 25148430
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.
Swaroop A; Wang QL; Wu W; Cook J; Coats C; Xu S; Chen S; Zack DJ; Sieving PA
Hum Mol Genet; 1999 Feb; 8(2):299-305. PubMed ID: 9931337
[TBL] [Abstract][Full Text] [Related]
12. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.
Gerber S; Perrault I; Hanein S; Barbet F; Ducroq D; Ghazi I; Martin-Coignard D; Leowski C; Homfray T; Dufier JL; Munnich A; Kaplan J; Rozet JM
Eur J Hum Genet; 2001 Aug; 9(8):561-71. PubMed ID: 11528500
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).
Pang JJ; Chang B; Hawes NL; Hurd RE; Davisson MT; Li J; Noorwez SM; Malhotra R; McDowell JH; Kaushal S; Hauswirth WW; Nusinowitz S; Thompson DA; Heckenlively JR
Mol Vis; 2005 Feb; 11():152-62. PubMed ID: 15765048
[TBL] [Abstract][Full Text] [Related]
15. A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.
Silva E; Dharmaraj S; Li YY; Pina AL; Carter RC; Loyer M; Traboulsi E; Theodossiadis G; Koenekoop R; Sundin O; Maumenee I
Ophthalmic Genet; 2004 Sep; 25(3):205-17. PubMed ID: 15512997
[TBL] [Abstract][Full Text] [Related]
16. Leber congenital amaurosis.
Perrault I; Rozet JM; Gerber S; Ghazi I; Leowski C; Ducroq D; Souied E; Dufier JL; Munnich A; Kaplan J
Mol Genet Metab; 1999 Oct; 68(2):200-8. PubMed ID: 10527670
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S; Perrault I; Gerber S; Tanguy G; Barbet F; Ducroq D; Calvas P; Dollfus H; Hamel C; Lopponen T; Munier F; Santos L; Shalev S; Zafeiriou D; Dufier JL; Munnich A; Rozet JM; Kaplan J
Hum Mutat; 2004 Apr; 23(4):306-17. PubMed ID: 15024725
[TBL] [Abstract][Full Text] [Related]
19. Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
Lotery AJ; Namperumalsamy P; Jacobson SG; Weleber RG; Fishman GA; Musarella MA; Hoyt CS; Héon E; Levin A; Jan J; Lam B; Carr RE; Franklin A; Radha S; Andorf JL; Sheffield VC; Stone EM
Arch Ophthalmol; 2000 Apr; 118(4):538-43. PubMed ID: 10766140
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]