Associated Papers
Clinical features and molecular mechanisms of RP1L1 variants causing occult macular dystrophy.
Pan Y et al.
Hgg Advances, 2025
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
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
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.
Yohe S et al.
Molecular Genetics & Genomic Medicine, 2020
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Somatic Variations in Cervical Cancers in Indian Patients.
Das P et al.
Plos One, 2016
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
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
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 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
A novel missense RP1 mutation in retinitis pigmentosa.
Chiang SW et al.
Eye (london, England), 2006
Genetic factors modifying clinical expression of autosomal dominant RP.
Daiger SP et al.
Advances in Experimental Medicine and Biology, 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
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