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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 18 (of 18 Records)

Query Trace: Disease and NDP[original query]
Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity.
Molecular vision 2005 Jul 11 (): 501-8.
Hutcheson Kelly A, Paluru Prasuna C, Bernstein Steven L, Koh Jamie, Rappaport Eric F, Leach Richard A, Young Terri
Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity.
Molecular vision 2013 19 476-85.
Kondo Hiroyuki, Kusaka Shunji, Yoshinaga Aki, Uchio Eiichi, Tawara Akihiko, Tahira Tomo
Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.
Investigative ophthalmology & visual science 2015 Mar 56 (3): 1937-46.
Salvo Jason, Lyubasyuk Vera, Xu Mingchu, Wang Hui, Wang Feng, Nguyen Duy, Wang Keqing, Luo Hongrong, Wen Cindy, Shi Catherine, Lin Danni, Zhang Kang, Chen R
Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR.
Molecular vision 2016 22 491-502.
Musada Ganeswara Rao, Jalali Subhadra, Hussain Anjli, Chururu Anupama Reddy, Gaddam Pramod Reddy, Chakrabarti Subhabrata, Kaur Inderje
Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy.
Investigative ophthalmology & visual science 2017 11 58 (13): 5949-5957.
Tang Miao, Sun Limei, Hu Andina, Yuan Miner, Yang Yu, Peng Xuening, Ding Xiaoy
Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease.
Indian journal of ophthalmology 2017 11 65 (11): 1161-1165.
Huang Xiaoyan, Tian Mao, Li Jiankang, Cui Ling, Li Min, Zhang Jiang
Mutation spectrum of NDP, FZD4 and TSPAN12 genes in Indian patients with retinopathy of prematurity.
The British journal of ophthalmology 2017 Oct .
Rathi Sonika, Jalali Subhadra, Musada Ganeswara Rao, Patnaik Satish, Balakrishnan Divya, Hussain Anjli, Kaur Inderje
The characteristics of digenic familial exudative vitreoretinopathy.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2018 8 256 (11): 2149-2156.
Li Yian, Peng Jie, Li Jiakai, Zhang Qi, Li Jing, Zhang Xiang, Fei Ping, She Kaiqin, Zhao Peiqu
Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.
Investigative ophthalmology & visual science 2018 11 59 (13): 5368-5381.
Li Jia-Kai, Li Yian, Zhang Xiang, Chen Chun-Li, Rao Yu-Qing, Fei Ping, Zhang Qi, Zhao Peiquan, Li Ji
Symmetry of folds in FEVR: A genotype-phenotype correlation study.
Experimental eye research 2019 7 186 107720.
Wang Zhirong, Chen Chonglin, Sun Limei, Zhang Aiyuan, Liu Chengxi, Huang Li, Ding Xiaoy
Haplotyping by linked-read sequencing (HLRS) of the genetic disease carriers for preimplantation genetic testing without a proband or relatives.
BMC medical genomics 2020 8 13 (1): 117.
Li Qing, Mao Yan, Li Shaoying, Du Hongzi, He Wenzhi, He Jianchun, Kong Lingyin, Zhang Jun, Liang Bo, Liu Jianqi
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11.
American journal of ophthalmology 2021 Sep .
Yang Junxing, Xiao Xueshan, Li Shiqiang, Mai Guiying, Jia Xiaoyun, Wang Panfeng, Sun Wenmin, Zhang Qingjio
Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy.
BMC ophthalmology 2021 2 21 (1): 84.
Jia Li-Yun, Ma K
Mutation spectrum in a cohort with familial exudative vitreoretinopathy.
Molecular genetics & genomic medicine 2022 Jul e2021.
Qu Ning, Li Wei, Han Dong-Ming, Gao Jia-Yu, Yang Zheng-Tao, Jiang Li, Liu Tian-Bin, Chen Yan-Xian, Jiang Xiao-Sen, Zhou Liang, Wu Ji-Hong, Huang X
Ocular manifestations of Chinese patients with copy number variants in the NDP gene.
Molecular vision 2022 28 29-38.
Huang Li, Zhang Linyan, Li Xiaoyu, Lu Jinglin, Sun Limei, Chen Limei, Ding Xiaoyan, Li Zh
Update on the Phenotypic and Genotypic Spectrum of KIF11-Related Retinopathy.
Genes 2022 4 13 (4): .
Wang You, Zhang Zhaotian, Huang Li, Sun Limei, Li Songshan, Zhang Ting, Ding Xiaoy
Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy.
Annals of medicine 2022 11 54 (1): 3286-3298.
Mao Jianbo, Chen Yijing, Fang Yuyan, Shao Yirun, Xiang Ziyi, Li Hanxiao, Zhao Shixin, Chen Yiqi, Shen Lij
Ocular phenotype and genetical analysis in patients with retinopathy of prematurity.
BMC ophthalmology 2022 1 22 (1): 22.
Tao Tianchang, Meng Xianfen, Xu Ningda, Li Jiarui, Cheng Yong, Chen Yi, Huang Lvzh
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