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Items: 1 to 20 of 122

1.

Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.

Koenekoop RK, Lopez I, den Hollander AI, Allikmets R, Cremers FP.

Clin Exp Ophthalmol. 2007 Jul;35(5):473-85. Review.

PMID:
17651254
2.

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
3.

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.

PMID:
18055816
4.

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
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.

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. doi: 10.1167/iovs.08-2589. Epub 2008 Oct 20.

7.

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
8.

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
9.

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.

Coppieters F, De Wilde B, Lefever S, De Meester E, De Rocker N, Van Cauwenbergh C, Pattyn F, Meire F, Leroy BP, Hellemans J, Vandesompele J, De Baere E.

Genet Med. 2012 Jun;14(6):576-85. doi: 10.1038/gim.2011.51. Epub 2012 Jan 26.

PMID:
22261762
10.

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.

PMID:
16123401
11.

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
12.

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
13.
14.

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. doi: 10.1016/j.preteyeres.2008.05.003. Epub 2008 Jun 1. Review.

PMID:
18632300
15.

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. Epub 2009 Apr 30.

PMID:
19407021
16.

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.

17.

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
18.

Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.

Verma A, Perumalsamy V, Shetty S, Kulm M, Sundaresan P.

PLoS One. 2013 Sep 16;8(9):e73172. doi: 10.1371/journal.pone.0073172. eCollection 2013.

19.

RDH12 retinopathy: novel mutations and phenotypic description.

Mackay DS, Dev Borman A, Moradi P, Henderson RH, Li Z, Wright GA, Waseem N, Gandra M, Thompson DA, Bhattacharya SS, Holder GE, Webster AR, Moore AT.

Mol Vis. 2011;17:2706-16. Epub 2011 Oct 19.

20.

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. Epub 2010 Jan 15.

PMID:
20079931

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