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Bowne,S.J., Liu,Q., Sullivan,L.S., Zhu,J., Spellicy,C.J., Rickman,C.B., Pierce,E.A., and Daiger,S.P. Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration? 2006; Invest Ophthalmol Vis.Sci. 47: 3754-3765.
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Camuzat,A., Rozet,J.M., Dollfus,H., Gerber,S., Perrault,I., Weissenbach,J., Munnich,A., and Kaplan,J. Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13. 1996; Hum.Genet. 97: 798-801.
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den Hollander,A.I., Heckenlively,J.R., van den Born,L.I., de Kok,Y.J., Velde-Visser,S.D., Kellner,U., Jurklies,B., van Schooneveld,M.J., Blankenagel,A., Rohrschneider,K., Wissinger,B., Cruysberg,J.R., Deutman,A.F., Brunner,H.G., Apfelstedt-Sylla,E., Hoyng,C.B., and Cremers,F.P. Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. 2001; Am.J.Hum.Genet. 69: 198-203.
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den Hollander,A.I., Koenekoop,R.K., Mohamed,M.D., Arts,H.H., Boldt,K., Towns,K.V., Sedmak,T., Beer,M., Nagel-Wolfrum,K., McKibbin,M., Dharmaraj,S., Lopez,I., Ivings,L., Williams,G.A., Springell,K., Woods,C.G., Jafri,H., Rashid,Y., Strom,T.M., van der,Z.B., Gosens,I., Kersten,F.F., van,W.E., Veltman,J.A., Zonneveld,M.N., van Beersum,S.E., Maumenee,I.H., Wolfrum,U., Cheetham,M.E., Ueffing,M., Cremers,F.P., Inglehearn,C.F., and Roepman,R. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. 2007; Nat.Genet. 39: 889-895.
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den Hollander,A.I., Koenekoop,R.K., Yzer,S., Lopez,I., Arends,M.L., Voesenek,K.E., Zonneveld,M.N., Strom,T.M., Meitinger,T., Brunner,H.G., Hoyng,C.B., van den Born,L.I., Rohrschneider,K., and Cremers,F.P. Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis. 2006; Am J Hum Genet. 79: 556-561.
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Dharmaraj,S., Li,Y., Robitaille,J.M., Silva,E., Zhu,D., Mitchell,T.N., Maltby,L.P., Baffoe-Bonnie,A.B., and Maumenee,I.H. A Novel Locus for Leber Congenital Amaurosis Maps to Chromosome 6q. 2000; Am.J.Hum.Genet. 66: 319-326.
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Dryja,T.P., Adams,S.M., Grimsby,J.L., McGee,T.L., Hong,D.H., Li,T., Andreasson,S., and Berson,E.L. Null RPGRIP1 alleles in patients with leber congenital amaurosis. 2001; Am.J.Hum.Genet. 68: 1295-1298.
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Freund,C.L., Wang,Q.L., Chen,S., Muskat,B.L., Wiles,C.D., Sheffield,V.C., Jacobson,S.G., McInnes,R.R., Zack,D.J., and Stone,E.M. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. 1998; Nat.Genet. 18: 311-312.
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Friedman,J.S., Chang,B., Kannabiran,C., Chakarova,C., Singh,H.P., Jalali,S., Hawes,N.L., Branham,K., Othman,M., Filippova,E., Thompson,D.A., Webster,A.R., Andreasson,S., Jacobson,S.G., Bhattacharya,S.S., Heckenlively,J.R., and Swaroop,A. Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. 2006; Am.J.Hum.Genet. 79: 1059-1070.
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Gerber,S., Perrault,I., Hanein,S., Barbet,F., Ducroq,D., Ghazi,I., Martin-Coignard,D., Leowski,C., Homfray,T., Dufier,J.L., Munnich,A., Kaplan,J., and Rozet,J.M. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. 2001; Eur.J.Hum.Genet. 9: 561-571.
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Gu,S., Thompson,D.A., Srisailapathy Srikumari,C.R., Lorenz,B., Finckh,U., Nicoletti,A., Murthy,K.R., Rathmann,M., Kumaramanickavel,G., Denton,M.J., and Gal,A. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 1997; Nat.Genet. 17: 194-197.
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Hameed,A., Khaliq,S., Ismail,M., Ebenezer,N.D., Jordon,T., Mehdi,S.Q., Payne,A.M., and Bhattacharya,S.S. A novel locus for Leber congential amaurosis (LCA) with anterior keratoconus mapping to chromosome 17p13. 1999; Am.J.Hum.Genet. 65: A255 Goto Top
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Henderson,R.H., Williamson,K.A., Kennedy,J.S., Webster,A.R., Holder,G.E., Robson,A.G., Fitzpatrick,D.R., van,H., V, and Moore,A.T. A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. 2009; Mol.Vis. 15:2442-7.: 2442-2447.
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Janecke,A.R., Thompson,D.A., Utermann,G., Becker,C., Hubner,C.A., Schmid,E., McHenry,C.L., Nair,A.R., Ruschendorf,F., Heckenlively,J., Wissinger,B., Nurnberg,P., and Gal,A. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 2004; Nat.Genet. 36: 850-854.
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Keen,T.J., Mohamed,M.D., McKibbin,M., Rashid,Y., Jafri,H., Maumenee,I.H., and Inglehearn,C.F. Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36. 2003; Eur.J.Hum.Genet. 11: 420-423.
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Li,Y., Wang,H., Peng,J., Gibbs,R.A., Lewis,R.A., Lupski,J.R., Mardon,G., and Chen,R. Mutation survey of known LCA genes and loci in the Saudi Arabian population. 2009; Invest Ophthalmol Vis.Sci. 50: 1336-1343.
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Lotery,A.J., Jacobson,S.G., Fishman,G.A., Weleber,R.G., Fulton,A.B., Namperumalsamy,P., Heon,E., Levin,A.V., Grover,S., Rosenow,J.R., Kopp,K.K., Sheffield,V.C., and Stone,E.M. Mutations in the CRB1 gene cause Leber congenital amaurosis. 2001; Arch.Ophthalmol. 119: 415-420.
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Marlhens,F., Bareil,C., Griffoin,J.M., Zrenner,E., Amalric,P., Eliaou,C., Liu,S.Y., Harris,E., Redmond,T.M., Arnaud,B., Claustres,M., and Hamel,C.P. Mutations in RPE65 cause Leber's congenital amaurosis. 1997; Nat.Genet. 17: 139-141.
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Mohamed,M.D., Topping,N.C., Jafri,H., Raashed,Y., McKibbin,M.A., and Inglehearn,C.F. Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. 2003; Br.J Ophthalmol. 87: 473-475.
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Perrault,I., Hanein,S., Gerard,X., Delphin,N., Fares-Taie,L., Gerber,S., Pelletier,V., Merce,E., Dollfus,H., Puech,B., foort-Dhellemmes,S., Petersen,M.D., Zafeiriou,D., Munnich,A., Kaplan,J., Roche,O., and Rozet,J.M. Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 2010; Hum.Mutat. 31: E1241-E1250
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Perrault,I., Hanein,S., and Kaplan,J. L'amaurose congenitale de Leber: les retinol-deshydrogenases au banc des accuses. 2004; Med.Sci.(Paris). 20: 1066-1068.
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Perrault,I., Rozet,J.M., Calvas,P., Gerber,S., Camuzat,A., Dollfus,H., Chatelin,S., Souied,E., Ghazi,I., Leowski,C., Bonnemaison,M., Le Paslier,D., Frezal,J., Dufier,J.L., Pittler,S., Munnich,A., and Kaplan,J. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. 1996; Nat.Genet. 14: 461-464.
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Perrault,I., Rozet,J.M., Gerber,S., Ghazi,I., Ducroq,D., Souied,E., Leowski,C., Bonnemaison,M., Dufier,J.L., Munnich,A., and Kaplan,J. Spectrum of retGC1 mutations in Leber's congenital amaurosis. 2000; Eur.J.Hum.Genet. 8: 578-582.
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Sohocki,M.M., Bowne,S.J., Sullivan,L.S., Blackshaw,S., Cepko,C.L., Payne,A.M., Bhattacharya,S.S., Khaliq,S., Qasim Mehdi,S., Birch,D.G., Harrison,W.R., Elder,F.F., Heckenlively,J.R., and Daiger,S.P. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. 2000; Nat.Genet. 24: 79-83.
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Stockton,D.W., Lewis,R.A., Abboud,E.B., Al Rajhi,A., Jabak,M., Anderson,K.L., and Lupski,J.R. A novel locus for Leber congenital amaurosis on chromosome 14q24. 1998; Hum.Genet. 103: 328-333.
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Thompson,D.A., Li,Y., McHenry,C.L., Carlson,T.J., Ding,X., Sieving,P.A., Apfelstedt-Sylla,E., and Gal,A. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. 2001; Nat.Genet. 28: 123-124.
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Wang,H., den Hollander,A.I., Moayedi,Y., Abulimiti,A., Li,Y., Collin,R.W., Hoyng,C.B., Lopez,I., Bray,M., Lewis,R.A., Lupski,J.R., Mardon,G., Koenekoop,R.K., and Chen,R. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. 2009; Am.J.Hum.Genet. 84: 380-387.
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