PubMed

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.

Mohamed MD, Topping NC, Jafri H, Raashed Y, McKibbin MA, Inglehearn CF.

Br J Ophthalmol. 2003 Apr;87(4):473-5.PMID: 12642313 [PubMed - indexed for MEDLINE]Related articlesFree article

Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA.

Ozgül RK, Bozkurt B, Kiratli H, Oğüş A.

Eye (Lond). 2006 Jul;20(7):817-9. Epub 2005 Aug 5.PMID: 16082399 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 11548141 [PubMed - indexed for MEDLINE]Related articles

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.

Ramprasad VL, Soumittra N, Nancarrow D, Sen P, McKibbin M, Williams GA, Arokiasamy T, Lakshmipathy P, Inglehearn CF, Kumaramanickavel G.

Mol Vis. 2008 Mar 10;14:481-6.PMID: 18334959 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutation survey of known LCA genes and loci in the Saudi Arabian population.

Li Y, Wang H, Peng J, Gibbs RA, Lewis RA, Lupski JR, Mardon G, Chen R.

Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1336-43. Epub 2008 Oct 20.PMID: 18936139 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical phenotypes in carriers of Leber congenital amaurosis mutations.

Galvin JA, Fishman GA, Stone EM, Koenekoop RK.

Ophthalmology. 2005 Feb;112(2):349-56.PMID: 15691574 [PubMed - indexed for MEDLINE]Related articles

[From gene to disease; Leber congenital amaurosis (LCA)]

Yzer S, van den Born LI, Cremers FP, den Hollander AI.

Ned Tijdschr Geneeskd. 2005 Oct 15;149(42):2334-7. Review. Dutch. PMID: 16261712 [PubMed - indexed for MEDLINE]Related articles

Analysis of three genes in Leber congenital amaurosis in Indonesian patients.

Sitorus RS, Lorenz B, Preising MN.

Vision Res. 2003 Dec;43(28):3087-93.PMID: 14611946 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 16272259 [PubMed - indexed for MEDLINE]Related articlesFree article

[Genetic and clinical heterogeneity in LCA patients. The end of uniformity]

Preising MN, Paunescu K, Friedburg C, Lorenz B.

Ophthalmologe. 2007 Jun;104(6):490-8. German. PMID: 17525851 [PubMed - indexed for MEDLINE]Related articles

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.

Keen TJ, Mohamed MD, McKibbin M, Rashid Y, Jafri H, Maumenee IH, Inglehearn CF.

Eur J Hum Genet. 2003 May;11(5):420-3.PMID: 12734549 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis.

Gerber S, Perrault I, Hanein S, Shalev S, Zlotogora J, Barbet F, Ducroq D, Dufier J, Munnich A, Rozet J, Kaplan J.

Ophthalmic Genet. 2002 Dec;23(4):225-35.PMID: 12567265 [PubMed - indexed for MEDLINE]Related articles

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL.

Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5160-7.PMID: 17962469 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

Sundaresan P, Vijayalakshmi P, Thompson S, Ko AC, Fingert JH, Stone EM.

Mol Vis. 2009 Sep 4;15:1781-7.PMID: 19753312 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

Simonelli F, Ziviello C, Testa F, Rossi S, Fazzi E, Bianchi PE, Fossarello M, Signorini S, Bertone C, Galantuomo S, Brancati F, Valente EM, Ciccodicola A, Rinaldi E, Auricchio A, Banfi S.

Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4284-90.PMID: 17724218 [PubMed - indexed for MEDLINE]Related articlesFree article

A gene for Leber's congenital amaurosis maps to chromosome 17p.

Camuzat A, Dollfus H, Rozet JM, Gerber S, Bonneau D, Bonnemaison M, Briard ML, Dufier JL, Ghazi I, Leowski C, et al.

Hum Mol Genet. 1995 Aug;4(8):1447-52.PMID: 7581387 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 15024725 [PubMed - indexed for MEDLINE]Related articles

Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).

Weleber RG.

Ophthalmic Genet. 2002 Jun;23(2):71-97.PMID: 12187427 [PubMed - indexed for MEDLINE]Related articles

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

Gerber S, Hanein S, Perrault I, Delphin N, Aboussair N, Leowski C, Dufier JL, Roche O, Munnich A, Kaplan J, Rozet JM.

Hum Mutat. 2007 Dec;28(12):1245.PMID: 18000884 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 16543197 [PubMed - indexed for MEDLINE]Related articles