Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding

Non-syndromic retinal ciliopathies: translating gene discovery into therapy

(2012) A. Estrada-Cuzcano et al.   HUMAN MOLECULAR GENETICS

Loss of Caveolin-1 Impairs Retinal Function Due to Disturbance of Subretinal Microenvironment

(2012) Xiaoman Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Homozygous Frameshift Mutation in LRAT Causes Retinitis Punctata Albescens

(2012) Karin W. Littink et al.   OPHTHALMOLOGY

Senior–Løken syndrome: A syndromic form of retinal dystrophy associated with nephronophthisis

(2012) C.C. Ronquillo et al.   VISION RESEARCH

Genetic Diagnosis in Consanguineous Families With Kidney Disease by Homozygosity Mapping Coupled With Whole-Exome Sequencing

(2011) Khaldoun I. Al-Romaih et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies

(2011) Moumita Chaki et al.   KIDNEY INTERNATIONAL

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Allelic and phenotypic heterogeneity inABCA4mutations

(2011) Tomas R. Burke et al.   OPHTHALMIC GENETICS

Genome-wide analysis of copy number variants in age-related macular degeneration

(2010) Kacie J. Meyer et al.   HUMAN GENETICS

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

(2010) E. A. Otto et al.   JOURNAL OF MEDICAL GENETICS

Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse

(2009) Si-Tse Jiang et al.   HUMAN MOLECULAR GENETICS

Nephronophthisis: Disease Mechanisms of a Ciliopathy

(2009) F. Hildebrandt et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY