Associated Papers
Exome Sequencing of a Type 1 Diabetes Mellitus Family Exposes Both Common and Individualized Rare Variants Contributing to Pathogenesis.
Ibrahim TAM et al.
Journal of Diabetes Research, 2025
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
Donato L et al.
Plos One, 2022
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
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.
Pongor LS et al.
Scientific Reports, 2020
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento.
Ma L et al.
International Journal of Ophthalmology, 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
Differential pattern of RP1 mutations in retinitis pigmentosa.
Zhang X et al.
Molecular Vision, 2010
Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
Chen LJ et al.
Investigative Ophthalmology & Visual Science, 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
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
[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
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Sohocki MM 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