A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies

High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

(2015) Gaël Manes et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

NGS-based Molecular diagnosis of 105 eyeGENE® probands with Retinitis Pigmentosa

(2015) Zhongqi Ge et al.   Scientific Reports

Clinical Heterogeneity in a Family With Mutations inUSH2A

(2015) Eva Lenassi et al.   JAMA Ophthalmology

Evaluation of copy number variation detection for a SNP array platform

(2014) Xin Zhang et al.   BMC BIOINFORMATICS

Novel Mutations of RPGR in Chinese Retinitis Pigmentosa Patients and the Genotype-Phenotype Correlation

(2014) Liping Yang et al.   PLoS One

Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies

(2014) María González-del Pozo et al.   PLoS One

Gene Augmentation for adRP Mutations in RHO

(2014) A. S. Lewin et al.   Cold Spring Harbor Perspectives in Medicine

Early Structural Anomalies Observed by High-Resolution Imaging in Two Related Cases of Autosomal-Dominant Retinitis Pigmentosa

(2014) Sung Pyo Park et al.   Ophthalmic Surgery Lasers & Imaging Retina

Genes and mutations causing retinitis pigmentosa

(2013) S P Daiger et al.   CLINICAL GENETICS

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

(2013) Joanna Wiszniewska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

(2013) Nicola Glöckle et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

Sterile Alpha Motif Containing 7 (Samd7) Is a Novel Crx-Regulated Transcriptional Repressor in the Retina

(2013) Julia Hlawatsch et al.   PLoS One

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

(2013) K. M. Nishiguchi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Photoreceptor cell death and rescue in retinal detachment and degenerations

(2013) Yusuke Murakami et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Programmed cell death pathways in cancer: a review of apoptosis, autophagy and programmed necrosis

(2012) L. Ouyang et al.   CELL PROLIFERATION

Next-generation genetic testing for retinitis pigmentosa

(2012) Kornelia Neveling et al.   HUMAN MUTATION

Comparison Between MP-1 and Humphrey Visual Field Defects in Glaucoma and Retinitis Pigmentosa

(2012) Jennifer H. Acton et al.   OPTOMETRY AND VISION SCIENCE

The Role of Mislocalized Phototransduction in Photoreceptor Cell Death of Retinitis Pigmentosa

(2012) Takeshi Nakao et al.   PLoS One

Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

(2011) Rıza Köksal Özgül et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families

(2011) S. Naz et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

Clinical and Rehabilitative Management of Retinitis Pigmentosa:Up-to-Date

(2011) Katia De Nadai et al.   CURRENT GENOMICS

Editorial [Hot Topic: Clinics, Epidemiology and Genetics of Retinitis Pigmentosa (Guest Editor: Francesco Parmeggiani)]

(2011) Francesco Parmeggiani   CURRENT GENOMICS

Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic Variability

(2011) Susie Chang et al.   CURRENT GENOMICS

Good Epidemiologic Practice in Retinitis Pigmentosa: From Phenotyping to Biobanking

(2011) Alessandro Galan et al.   CURRENT GENOMICS

Retinitis Pigmentosa: Genes and Disease Mechanisms

(2011) Francesco Parmeggiani et al.   CURRENT GENOMICS

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

(2011) Sara J Bowne et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

CRB1mutations in inherited retinal dystrophies

(2011) Kinga Bujakowska et al.   HUMAN MUTATION

RIPK-Dependent Necrosis and Its Regulation by Caspases: A Mystery in Five Acts

(2011) Douglas R. Green et al.   MOLECULAR CELL

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

STRUCTURAL AND FUNCTIONAL CHANGES ASSOCIATED WITH NORMAL AND ABNORMAL FUNDUS AUTOFLUORESCENCE IN PATIENTS WITH RETINITIS PIGMENTOSA

(2011) Vivienne C. Greenstein et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Correlation of fundus autofluorescence with photoreceptor morphology and functional changes in eyes with retinitis pigmentosa

(2010) Taku Wakabayashi et al.   ACTA OPHTHALMOLOGICA

Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

(2010) Dikla Bandah-Rozenfeld et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fourier-Domain Optical Coherence Tomography and Microperimetry Findings in Retinitis Pigmentosa

(2010) Stefano Lupo et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Biochemical Analysis of Phenotypic Diversity Associated with Mutations in Codon 244 of the Retinal Degeneration Slow Gene

(2010) Shannon M. Conley et al.   BIOCHEMISTRY

Prevalence of retinitis pigmentosa in Slovenia

(2010) B. Peterlin et al.   CLINICAL GENETICS

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

(2010) Laura K. Conlin et al.   HUMAN MOLECULAR GENETICS

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

(2010) Alan F. Wright et al.   NATURE REVIEWS GENETICS

Inhibition of Nuclear Translocation of Apoptosis-Inducing Factor Is an Essential Mechanism of the Neuroprotective Activity of Pigment Epithelium-Derived Factor in a Rat Model of Retinal Degeneration

(2008) Yusuke Murakami et al.   AMERICAN JOURNAL OF PATHOLOGY

Correlation between retinal sensitivity and photoreceptor inner/outer segment junction in patients with retinitis pigmentosa

(2008) Y Mitamura et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Autophagy fights disease through cellular self-digestion

(2008) Noboru Mizushima et al.   NATURE

Caspases in apoptosis and beyond

(2008) J Li et al.   ONCOGENE