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ARVO Annual Meeting Abstract May 2006

CSPG2/Versican Intron 7 Mutations Cause Wagner Disease Due to an Imbalance Between Splice Variants

A. Mukhopadhyay; K. Nikopoulos; A. Maugeri; E. van Nouhuys; A.P. de Brouwer; D. Wittebol–Post; G.C. M. Black; C.B. Hoyng; F.P. M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):4635.

ARVO Annual Meeting Abstract May 2006

Analysis of the RDS/Peripherin Gene in Macular Dystrophies

C.J. Boon; A.I. den Hollander; B.J. Klevering; M.N. Zonneveld; M.J. van Schooneveld; F.P. M. Cremers; C.B. Hoyng

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):5809.

ARVO Annual Meeting Abstract May 2006

Genome–Wide SNP Microarrays as a Diagnostic Tool in Consanguineous LCA Patients

R. Koenekoop; I. Lopez; M.A. Musarella; T. Strom; T. Meitinger; F.P. M. Cremers; A.I. den Hollander

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1688.

ARVO Annual Meeting Abstract May 2006

Microarray–Based Mutation Detection and Phenotypic Characterization of Patients With Leber Congenital Amaurosis

S. Yzer; B.P. Leroy; E. De Baere; J.P. Martinez Ciriano; J.–T.H. N. de Faber; F. Meire; I. Casteels; R. Allikmets; I. van den Born; F.P. M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1690.

ARVO Annual Meeting Abstract May 2006

Analysis of Autosomal Recessive Retinitis Pigmentosa Patients on the ARRP Genotyping Microarray (Disease Chip)

R. Allikmets; J. Zernant; K. Jaakson; I. Lopez; E. Haamer; A. den Hollander; C. Ayuso; S. Banfi; F.P. M. Cremers; R.K. Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1700.

ARVO Annual Meeting Abstract May 2006

The RPGRIP1 Assembly Complex Mediates Multiple Biological Processes That Are Vital for Retinal Function

R. Roepman; S.J. F. Letteboer; H.H. Arts; S.E. C. van Beersum; X. Lu; E. Krieger; P.A. Ferreira; F.P. M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):2064.

ARVO Annual Meeting Abstract May 2005

The Phenotypes of Patients and Heterozygous Carriers With RDH12 Mutations Are Different From Those With RPE65 Mutations

S. Yzer; I. Lopez; G.A. Fishman; J. Racine; A. Dorfman; P. Lachapelle; A.R. Janecke; F.P. M. Cremers; R. Allikmets; R.K. Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):528.

ARVO Annual Meeting Abstract May 2005

Heterozygous Carriers (Parents of Offspring With Leber Congenital Amaurosis) With CRB1 Mutations Have a Focal Retinal Dysfunction

S.S. Al–Zuhaibi; I. Lopez; G.A. Fishman; H. Chakor; J. Racine; P. Lachapelle; A. den Hollander; F.P. M. Cremers; R. Allikmets; R.K. Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):538.

ARVO Annual Meeting Abstract May 2005

Novel Expression of RPGRIP1 and Functional Analysis of Heterozygous Nonsense Mutations

R. Koenekoop; I. Lopez; G.A. Fishman; S. Yzer; M.A. Musarella; J. Racine; A. Dorfman; P. Lachapelle; F.P. M. Cremers; R. Allikmets

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1705.

ARVO Annual Meeting Abstract May 2005

Candidate Genes Analysis in Autosomal Dominant Rhegmatogenous Retinal Detachment

A. Mukhopadhyay; A. Maugeri; S.L. Go; C.B. Hoyng; F.P. M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):5487.

ARVO Annual Meeting Abstract May 2004

Towards the identification of novel members of the human CRB1 protein network in the retina

I. Gosens; A.I. den Hollander; S.J. F. Letteboer; F.P. M. Cremers; R. Roepman

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):4593.

ARVO Annual Meeting Abstract May 2004

Mutation screening of genes from the RP17 interval in patients with autosomal dominant retinitis pigmentosa (adRP)

C.F. Chakarova; A.I. den Hollander; F.P. M. Cremers; B. Wissinger; E. Zrenner; S.S. Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):4741.

ARVO Annual Meeting Abstract May 2004

Identification of a novel locus for autosomal dominant butterfly–shaped macular dystrophy on 5q21.2–q33.2

A.I. Den Hollander; J.J. C. van Lith–Verhoeven; F.F. J. Kersten; A.G. A. M. Heister; C.G. F. de Kovel; A.F. Deutman; C.B. Hoyng; F.P. M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):4744.

ARVO Annual Meeting Abstract May 2004

Novel interactors link the RPGR/RPGRIP1 multisubunit assembly complex to different key processes of the retina

R. Roepman; S.J. F. Letteboer; F.P. M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):2438.

ARVO Annual Meeting Abstract May 2004

Microarray–based mutation analysis of the genes underlying Leber congenital amaurosis reveals the CRB1 gene as the most frequent cause of LCA

S. Yzer; L.I. van den Born; T. de Ravel; G. Matthijs; T. Swinnen; A.I. den Hollander; R. Roepman; R. Allikmets; F.P. M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):2443.

ARVO Annual Meeting Abstract May 2004

MULTIALLELIC INHERITANCE AND/OR MODIFIER ALLELES IN LEBER CONGENITAL AMAUROSIS: ANALYSIS WITH THE LCA DISEASE CHIP

R.L. Allikmets; J. Zernant; I. Perrault; A. den Hollander; S. Dharmaraj; F.P. M. Cremers; J. Kaplan; R.K. Koenekoop; I. Maumenee

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):2444.

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