CRB1mutations in inherited retinal dystrophies

Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos

(2011) Juan Carlos Zenteno et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of Novel Mutations in Pakistani Families With Autosomal Recessive Retinitis Pigmentosa

(2011) Maleeha Azam   ARCHIVES OF OPHTHALMOLOGY

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

(2011) Lin Li et al.   PLoS One

Genotype-Phenotype Correlation for Leber Congenital Amaurosis in Northern Pakistan

(2010) Martin McKibbin   ARCHIVES OF OPHTHALMOLOGY

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

(2010) Frauke Coppieters et al.   HUMAN MUTATION

EYS is a major gene for rod-cone dystrophies in France

(2010) Isabelle Audo et al.   HUMAN MUTATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa

(2010) Saloni Walia et al.   OPHTHALMOLOGY

Development of a Diagnostic Genetic Test for Simplex and Autosomal Recessive Retinitis Pigmentosa

(2010) Graeme Richard Clark et al.   OPHTHALMOLOGY

Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: The pitfalls of homozygosity mapping

(2009) Liat Benayoun et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Case Report: Autofluorescence Imaging and Phenotypic Variance in a Sibling Pair with Early-Onset Retinal Dystrophy Due to Defective CRB1 Function

(2009) Joaquin Tosi et al.   CURRENT EYE RESEARCH

NR2E3mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)

(2009) Daniel F. Schorderet et al.   HUMAN MUTATION

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

The prevalence of cystoid macular oedema in retinitis pigmentosa patients determined by optical coherence tomography

(2008) M Hajali et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Composition and function of the Crumbs protein complex in the mammalian retina

(2008) Ilse Gosens et al.   EXPERIMENTAL EYE RESEARCH

Leber congenital amaurosis: Genes, proteins and disease mechanisms

(2008) Anneke I. den Hollander et al.   PROGRESS IN RETINAL AND EYE RESEARCH