New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11

Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

(2013) Alice E. Davidson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genes and mutations causing retinitis pigmentosa

(2013) S P Daiger et al.   CLINICAL GENETICS

Mutations in the Mevalonate Kinase ( MVK ) Gene Cause Nonsyndromic Retinitis Pigmentosa

(2013) Anna M. Siemiatkowska et al.   OPHTHALMOLOGY

Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa

(2011) Stephan Züchner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

(2011) Cecilie Bredrup et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Key enzymes of the retinoid (visual) cycle in vertebrate retina

(2011) Philip D. Kiser et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Signaling by vitamin A and retinol-binding protein in regulation of insulin responses and lipid homeostasis

(2011) Daniel C. Berry et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Usher syndrome (sensorineural deafness and retinitis pigmentosa)

(2011) Crystel Bonnet et al.   CURRENT OPINION IN NEUROLOGY

Morphological defects in a novel Rdh10 mutant that has reduced retinoic acid biosynthesis and signaling

(2011) Amir M. Ashique et al.   GENESIS

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

(2011) J. M. Schultz et al.   JOURNAL OF MEDICAL GENETICS

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

(2011) Audrey Putoux et al.   PEDIATRIC NEPHROLOGY

Retinol dehydrogenases (RDHs) in the visual cycle

(2010) Ryan O. Parker et al.   EXPERIMENTAL EYE RESEARCH

CEP290, a gene with many faces: mutation overview and presentation of CEP290base

(2010) Frauke Coppieters et al.   HUMAN MUTATION

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

(2009) Norann A. Zaghloul et al.   JOURNAL OF CLINICAL INVESTIGATION

Unraveling cadherin 23's role in development and mechanotransduction

(2009) J.-B. Shin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ISCEV Standard for full-field clinical electroretinography (2008 update)

(2008) M. F. Marmor et al.   DOCUMENTA OPHTHALMOLOGICA

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

(2008) Carmen C Leitch et al.   NATURE GENETICS