K. W. Littink

发表

Author Response: Genetic Testing and Clinical Characterization of Patients with Cone–Rod Dystrophy

F. Cremers, A. I. Hollander, R. Koenekoop, 2010 .

Autosomal-Recessive Retinitis Pigmentosa

B. J. Klevering, S. Shalev, H. Garzozi, 2010 .

Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome

F. Riemslag, F. Cremers, L. I. van den Born, 2018, Genes.

Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.

B. J. Klevering, A. D. den Hollander, F. Cremers, 2010, American journal of human genetics.

The power of homozygosity mapping: discovery of new genetic defects in patients with retinal dystrophy.

A. D. den Hollander, F. Cremers, R. Collin, 2012, Advances in experimental medicine and biology.

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.

F. Riemslag, A. D. den Hollander, J. Keunen, 2012, Ophthalmology.

A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.

F. Riemslag, A. D. den Hollander, F. Cremers, 2009, Investigative ophthalmology & visual science.

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

B. J. Klevering, E. Zrenner, T. de Ravel, 2012, Archives of ophthalmology.

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.

B. J. Klevering, J. Hehir-Kwa, T. Strom, 2011, Investigative ophthalmology & visual science.

BBS 1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

B. J. Klevering, E. Zrenner, D. Sharon, 2012 .

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.

C. Klaver, A. D. den Hollander, F. Cremers, 2010, Investigative ophthalmology & visual science.

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa

Joaquín Dopazo, Javier Santoyo, Montserrat Baiget, 2010, Human mutation.

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.

I. Chowers, T. Strom, A. D. den Hollander, 2010, Investigative ophthalmology & visual science.

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

J. Veltman, A. D. den Hollander, F. Cremers, 2010, Investigative ophthalmology & visual science.

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

B. J. Klevering, T. Strom, A. D. den Hollander, 2008, American journal of human genetics.

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.

B. J. Klevering, A. D. den Hollander, F. Cremers, 2010, Ophthalmology.

Identification of Novel Mutations in Patients With Leber Congenital Amaurosis by Genome-Wide Homozygosity Mapping With SNP Microarrays

G. Fishman, F. Cremers, S. Yzer, 2007 .

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

B. J. Klevering, T. Strom, A. D. den Hollander, 2008, American journal of human genetics.

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.

I. Chowers, Dikla Bandah-Rozenfeld, D. Sharon, 2010, Investigative ophthalmology & visual science.