Identifying two pathogenic variants in a patient with pigmented paravenous retinochoroidal atrophy

Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients

(2021) Avigail Beryozkin et al.   Frontiers in Cell and Developmental Biology

Pigmented paravenous retinochoroidal atrophy associated with Vogt-Koyanagi-Harada disease: a case report

(2020) Prithvi Ramtohul et al.   BMC Ophthalmology

Asymmetry in Pigmented Paravenous Retinochoroidal Atrophy

(2020) Lekha Mukkamala et al.   JAMA Ophthalmology

Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing

(2019) Kai Yang et al.   Biomed Research International

Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1 , a Component of Bruch’s Membrane

(2018) Jordi Corominas et al.   OPHTHALMOLOGY

Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing

(2017) Saber Imani et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients

(2017) Hui Huang et al.   Oncotarget

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes

(2017) Fabiana Louise Motta et al.   Scientific Reports

Detection of feigned attention deficit hyperactivity disorder

(2014) Lara Tucha et al.   JOURNAL OF NEURAL TRANSMISSION

Pigmented paravenous retinochoroidal atrophy (Review)

(2014) HOU-BIN HUANG et al.   Experimental and Therapeutic Medicine

Successful Gene Therapy in the RPGRIP1-deficient Dog: a Large Model of Cone–Rod Dystrophy

(2013) Elsa Lhériteau et al.   MOLECULAR THERAPY

Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes

(2013) Li Huang et al.   PLoS One

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

(2012) L. Abu-Safieh et al.   GENOME RESEARCH

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

(2011) Lorena Fernández-Martínez et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis

(2009) Jungyeon Won et al.   HUMAN MOLECULAR GENETICS