137 related articles for article (PubMed ID: 18214790)
1. Leber congenital amaurosis: disease, genetics and therapy.
Ahmed E; Loewenstein J
Semin Ophthalmol; 2008; 23(1):39-43. PubMed ID: 18214790
[TBL] [Abstract][Full Text] [Related]
2. An overview of Leber congenital amaurosis: a model to understand human retinal development.
Koenekoop RK
Surv Ophthalmol; 2004; 49(4):379-98. PubMed ID: 15231395
[TBL] [Abstract][Full Text] [Related]
3. Leber congenital amaurosis: a genetic paradigm.
Allikmets R
Ophthalmic Genet; 2004 Jun; 25(2):67-79. PubMed ID: 15370538
[TBL] [Abstract][Full Text] [Related]
4. Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis.
Traboulsi EI; Koenekoop R; Stone EM
Ophthalmic Genet; 2006 Dec; 27(4):113-5. PubMed ID: 17148037
[TBL] [Abstract][Full Text] [Related]
5. Leber congenital amaurosis: genes, proteins and disease mechanisms.
den Hollander AI; Roepman R; Koenekoop RK; Cremers FP
Prog Retin Eye Res; 2008 Jul; 27(4):391-419. PubMed ID: 18632300
[TBL] [Abstract][Full Text] [Related]
6. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
Zernant J; Külm M; Dharmaraj S; den Hollander AI; Perrault I; Preising MN; Lorenz B; Kaplan J; Cremers FP; Maumenee I; Koenekoop RK; Allikmets R
Invest Ophthalmol Vis Sci; 2005 Sep; 46(9):3052-9. PubMed ID: 16123401
[TBL] [Abstract][Full Text] [Related]
7. Molecular genetics of Leber congenital amaurosis.
Cremers FP; van den Hurk JA; den Hollander AI
Hum Mol Genet; 2002 May; 11(10):1169-76. PubMed ID: 12015276
[TBL] [Abstract][Full Text] [Related]
8. [First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation].
Aboussair N; Berahou A; Perrault I; Elalaoui SC; Megzari A; Rozet JM; Kaplan J; Sefiani A
J Fr Ophtalmol; 2010 Feb; 33(2):117.e1-5. PubMed ID: 20056295
[TBL] [Abstract][Full Text] [Related]
9. [First results of gene therapy for Leber congenital amaurosis].
Nau JY
Rev Med Suisse; 2008 May; 4(156):1177. PubMed ID: 18630174
[No Abstract] [Full Text] [Related]
10. [From gene to disease; Leber congenital amaurosis (LCA)].
Yzer S; van den Born LI; Cremers FP; den Hollander AI
Ned Tijdschr Geneeskd; 2005 Oct; 149(42):2334-7. PubMed ID: 16261712
[TBL] [Abstract][Full Text] [Related]
11. Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
Cideciyan AV; Aleman TS; Jacobson SG; Khanna H; Sumaroka A; Aguirre GK; Schwartz SB; Windsor EA; He S; Chang B; Stone EM; Swaroop A
Hum Mutat; 2007 Nov; 28(11):1074-83. PubMed ID: 17554762
[TBL] [Abstract][Full Text] [Related]
12. RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.
Koenekoop RK
Ophthalmic Genet; 2005 Dec; 26(4):175-9. PubMed ID: 16352478
[TBL] [Abstract][Full Text] [Related]
13. Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.
Jacobson SG; Cideciyan AV; Aleman TS; Sumaroka A; Schwartz SB; Roman AJ; Stone EM
Ophthalmology; 2007 May; 114(5):895-8. PubMed ID: 17306875
[TBL] [Abstract][Full Text] [Related]
14. Preliminary results of gene therapy for retinal degeneration.
Miller JW
N Engl J Med; 2008 May; 358(21):2282-4. PubMed ID: 18441372
[No Abstract] [Full Text] [Related]
15. [Progress in gene therapy study of Leber congenital amaurosis].
Pan SS; Zheng QX; Li WS; Pang JJ
Zhonghua Yan Ke Za Zhi; 2011 Jan; 47(1):83-7. PubMed ID: 21418933
[TBL] [Abstract][Full Text] [Related]
16. Prospects for retinal gene replacement therapy.
Smith AJ; Bainbridge JW; Ali RR
Trends Genet; 2009 Apr; 25(4):156-65. PubMed ID: 19303164
[TBL] [Abstract][Full Text] [Related]
17. Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.
Porto FBO; Jones EM; Branch J; Soens ZT; Maia IM; Sena IFG; Sampaio SAM; Simões RT; Chen R
Genes (Basel); 2017 Nov; 8(12):. PubMed ID: 29186038
[TBL] [Abstract][Full Text] [Related]
18. Leber congenital amaurosis: from darkness to spotlight.
Kaplan J
Ophthalmic Genet; 2008 Sep; 29(3):92-8. PubMed ID: 18766987
[TBL] [Abstract][Full Text] [Related]
19. Concordance and recessive inheritance of Leber congenital amaurosis.
Lambert SR; Sherman S; Taylor D; Kriss A; Coffey R; Pembrey M
Am J Med Genet; 1993 May; 46(3):275-7. PubMed ID: 8488871
[TBL] [Abstract][Full Text] [Related]
20. Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients.
Casteels I; Spileers W; Demaerel P; Casaer P; De Cock P; Dralands L; Missotten L
Neuropediatrics; 1996 Aug; 27(4):189-93. PubMed ID: 8892367
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
