Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 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
TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations.
Chen C et al.
Experimental Eye Research, 2024
Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders.
Xintong Z et al.
Bmc Medical Genomics, 2023
Identification of 12 OCA Cases in Chinese Population and Two Novel Variants.
Zhong Z et al.
Frontiers in Genetics, 2022
Novel compound heterozygous variants of tyrosinase gene in an isolated foveal hypoplasia patient without nystagmus.
Xu T et al.
Journal of Human Genetics, 2021
Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.
Xu C et al.
Journal of Clinical Laboratory Analysis, 2021
Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism.
Chuan Z et al.
Current Eye Research, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.
Bibi N et al.
Frontiers in Genetics, 2020
Molecular genetic study of 59 Chinese Oculocutaneous albinism families.
Luo D et al.
European Journal of Medical Genetics, 2019
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
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Power B et al.
Orphanet Journal of Rare Diseases, 2019
Identification of TYR mutations in patients with oculocutaneous albinism.
Sun W et al.
Molecular Medicine Reports, 2018
Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing.
Qiu B et al.
Genetic Testing and Molecular Biomarkers, 2018
Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.
Wei AH et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2015
Tyrosinase gene mutations in the Chinese Han population with OCA1.
Liu N et al.
Genetics Research, 2014
[Early prenatal genetic diagnosis of oculocutaneous albinism type I in seven families].
Wu Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2012
[Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients].
Zheng H et al.
Zhongguo Ying Yong Sheng Li Xue Za Zhi = Zhongguo Yingyong Shenglixue Zazhi = Chinese Journal of Applied Physiology, 2011
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.
Wei A et al.
Journal of Dermatological Science, 2011
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
Wei A et al.
The Journal of Investigative Dermatology, 2010
Four novel mutations of TYR gene in Chinese OCA1 patients.
Wang Y et al.
Journal of Dermatological Science, 2009
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.
Oetting WS
Pigment Cell Research, 2000