Associated Papers
Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.
Gnanasekaran H et al.
Clinical Genetics, 2023
Complete genome sequence and bioinformatics analysis of nine Egyptian females with clinical information from different geographic regions in Egypt.
ElHefnawi M et al.
Gene, 2021
Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions.
Wang J et al.
Frontiers in Cell and Developmental Biology, 2021
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Whole genome sequencing and bioinformatics analysis of two Egyptian genomes.
ElHefnawi M et al.
Gene, 2018
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data.
D'Angelo R et al.
International Journal of Molecular Medicine, 2017
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L et al.
Investigative Ophthalmology & Visual Science, 2016
A novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family.
Qu LH et al.
Lipids in Health and Disease, 2014
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
de Sousa Dias M et al.
Molecular Vision, 2013
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
[Analysis of clinical phenotype and mode of inheritance in retinitis pigmentosa patients with consanguineous marriage].
Rong WN et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2012
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 2012
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC et al.
Ophthalmology, 2011
Differential pattern of RP1 mutations in retinitis pigmentosa.
Zhang X et al.
Molecular Vision, 2010
Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa.
Sheng X et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2008
Genetic association of low-density lipoprotein receptor-related protein 2 (LRP2) with plasma lipid levels.
Mii A et al.
Journal of Atherosclerosis and Thrombosis, 2007
A novel missense RP1 mutation in retinitis pigmentosa.
Chiang SW et al.
Eye (london, England), 2006
[Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong].
Wang DY et al.
Zhonghua Yi Xue Za Zhi, 2005
Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa.
Khaliq S et al.
Journal of Medical Genetics, 2005
Association of nucleotide variations in the apolipoprotein B48 receptor gene (APOB48R) with hypercholesterolemia.
Fujita Y et al.
Journal of Human Genetics, 2005
Hypercholesterolemia associated with splice-junction variation of inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) gene.
Fujita Y et al.
Journal of Human Genetics, 2004
Functional impairment of two novel mutations detected in lipoprotein-associated phospholipase A2 (Lp-PLA2) deficiency patients.
Ishihara M et al.
Journal of Human Genetics, 2004
Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene.
Fujita Y et al.
Journal of Human Genetics, 2003
[A study on localization of an autosomal dominant retinitis pigmentosa gene].
Ma X et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2002
A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa.
Dietrich K et al.
The British Journal of Ophthalmology, 2002
RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa.
Baum L et al.
Human Mutation, 2001
A molecular case report of autosomal dominant retinitis pigmentosa: RP1/RHO sequence variants in a Turkish family.
Nalbantoglu SM et al.
Omics : a Journal of Integrative Biology, 0