Associated Papers
Genetic analysis of participants with foveal hypoplasia.
Lejoyeux R et al.
Ophthalmic Genetics, 2025
Curation of OCA2 Variants of Uncertain Significance From Chinese Oculocutaneous Albinism Patients Based on Multiplex Assays.
Yang Q et al.
Pigment Cell & Melanoma Research, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism.
Woertz EN et al.
Investigative Ophthalmology & Visual Science, 2024
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Jiang B et al.
Molecular Genetics & Genomic Medicine, 2024
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.
Arcot Sadagopan K et al.
Ophthalmic Genetics, 2023
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.
Xiao Y et al.
Bmc Genomics, 2022
Identification of 12 OCA Cases in Chinese Population and Two Novel Variants.
Zhong Z et al.
Frontiers in Genetics, 2022
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
Kessel L et al.
Ophthalmic Genetics, 2021
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.
Litts KM et al.
Translational Vision Science & Technology, 2021
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
Chan HW et al.
Genes, 2021
Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.
Xu C et al.
Journal of Clinical Laboratory Analysis, 2021
Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.
Ma L et al.
Frontiers in Genetics, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Latency and interval therapy affect the evolution in metastatic colorectal cancer.
Nikbakht H et al.
Scientific Reports, 2020
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.
Zhong Z et al.
Pigment Cell & Melanoma Research, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov DR et al.
Human Mutation, 2013
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.
Wei A et al.
Journal of Dermatological Science, 2011
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).
Spritz RA et al.
Human Mutation, 1997