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Items: 1 to 20 of 110

1.

Mutations in the CRB1 gene cause Leber congenital amaurosis.

Lotery AJ, Jacobson SG, Fishman GA, Weleber RG, Fulton AB, Namperumalsamy P, Héon E, Levin AV, Grover S, Rosenow JR, Kopp KK, Sheffield VC, Stone EM.

Arch Ophthalmol. 2001 Mar;119(3):415-20.

PMID:
11231775
2.

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.

PMID:
10766140
3.

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
5.

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.

PMID:
16505055
6.

Evaluation of genotype-phenotype associations in leber congenital amaurosis.

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

Retina. 2005 Oct-Nov;25(7):919-29.

PMID:
16205573
7.

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.

den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A, Rohrschneider K, Wissinger B, Cruysberg JR, Deutman AF, Brunner HG, Apfelstedt-Sylla E, Hoyng CB, Cremers FP.

Am J Hum Genet. 2001 Jul;69(1):198-203. Erratum in: Am J Hum Genet 2001 Nov;69(5):1160.

8.

Molecular characterization of Leber congenital amaurosis in Koreans.

Seong MW, Kim SY, Yu YS, Hwang JM, Kim JY, Park SS.

Mol Vis. 2008 Aug 4;14:1429-36.

9.

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.

Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH.

Arch Ophthalmol. 2004 Jul;122(7):1029-37.

PMID:
15249368
10.

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.

PMID:
16936081
11.

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. doi: 10.1167/iovs.08-2886.

PMID:
19407021
12.

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
13.

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.

PMID:
18055820
14.

Screening for CRX gene mutations in Chinese patients with Leber congenital amaurosis and mutational phenotype.

Zhang Q, Li S, Guo X, Guo L, Xiao X, Jia X, Kuang Z.

Ophthalmic Genet. 2001 Jun;22(2):89-96.

PMID:
11449318
15.

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.

PMID:
11035546
16.

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

Bustamante-Aragones A, Vallespin E, Rodriguez de Alba M, Trujillo-Tiebas MJ, Gonzalez-Gonzalez C, Diego-Alvarez D, Riveiro-Alvarez R, Lorda-Sanchez I, Ayuso C, Ramos C.

Mol Vis. 2008 Aug 4;14:1388-94.

17.
18.

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.

19.

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

Walia S, Fishman GA, Jacobson SG, Aleman TS, Koenekoop RK, Traboulsi EI, Weleber RG, Pennesi ME, Heon E, Drack A, Lam BL, Allikmets R, Stone EM.

Ophthalmology. 2010 Jun;117(6):1190-8. doi: 10.1016/j.ophtha.2009.09.056.

PMID:
20079931
20.

Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.

van den Hurk JA, Rashbass P, Roepman R, Davis J, Voesenek KE, Arends ML, Zonneveld MN, van Roekel MH, Cameron K, Rohrschneider K, Heckenlively JR, Koenekoop RK, Hoyng CB, Cremers FP, den Hollander AI.

Mol Vis. 2005 Apr 15;11:263-73.

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