Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 30 Records) |
Query Trace: NDP[original query] |
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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 |
A novel non-synonymous mutation in the melanocortin-4 receptor gene (MC4R) in a 2-year-old Austrian girl with extreme obesity. Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2007 Jan 115 (1): 7-12. Rettenbacher E, Tarnow P, Brumm H, Prayer D, Wermter A-K, Hebebrand J, Biebermann H, Hinney A, Widhalm |
Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy. American journal of ophthalmology 2011 Jun 151 (6): 1095-1100.e1. Kondo Hiroyuki, Kusaka Shunji, Yoshinaga Aki, Uchio Eiichi, Tawara Akihiko, Hayashi Kenshi, Tahira Tomo |
Investigating association of four gene regions (GABRB3, MAOB, PAH, and SLC6A4) with five symptoms in schizophrenia. Psychiatry research 2012 Jul 198 (2): 202-6. Sun Jingchun, Jayathilake Karu, Zhao Zhongming, Meltzer Herbert |
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 |
Whole exome sequence analysis of Peters anomaly. Human genetics 2014 Dec 133 (12): 1497-511. Weh Eric, Reis Linda M, Happ Hannah C, Levin Alex V, Wheeler Patricia G, David Karen L, Carney Erin, Angle Brad, Hauser Natalie, Semina Elena |
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 |
Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy. Genetic testing and molecular biomarkers 2016 May . Zhang Lin, Yang Yeming, Li Shujin, Tai Zhengfu, Huang Lulin, Liu Yuqing, Zhu Xiong, Di Yanan, Qu Chao, Jiang Zhilin, Li Yuanfeng, Zhang Guolin, Kim Ramasamy, Sundaresan Periasamy, Yang Zhenglin, Zhu Xianj |
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 |
Detection of FZD4, LRP5 and TSPAN12 Genes Variants in Malay Premature Babies with Retinopathy of Prematurity. Journal of ophthalmic & vision research 0 14 (2): 171-178. Mohd Khair Siti Zulaikha Nashwa, Ismail Abdul Salim, Embong Zunaina, Mohamed Yusoff Abdul Az |
A Novel Mutation in the NDP Gene is Associated with Familial Exudative Vitreoretinopathy in a Southern Chinese Family. Genetic testing and molecular biomarkers 2019 12 23 (12): 850-856. Bao Yun, Yang Jingmin, Chen Lu, Chen Miaohong, Zhao Peiquan, Qiu Shuiping, Zhang Lu, Zhang Guomi |
The Role of Chromosome X in Intraocular Pressure Variation and Sex-Specific Effects. Investigative ophthalmology & visual science 2020 Sep 61 (11): 20. Simcoe Mark J, Khawaja Anthony P, Mahroo Omar A, Hammond Christopher J, Hysi Pirro G, |
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 |
Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy. Investigative ophthalmology & visual science 2021 12 62 (15): 4. Tao Tianchang, Xu Ningda, Li Jiarui, Li Hongyan, Qu Jinfeng, Yin Hong, Liang Jianhong, Zhao Mingwei, Li Xiaoxin, Huang Lvzh |
Analysis of Genomic Alterations Associated with Recurrence in Early Stage HER2-Positive Breast Cancer. Cancers 2022 Jul 14 (15): . Kim Yong-Seok, Sun Der Sheng, Ahn Juneyoung, Kim Yongseon, Yoon Jung-Sook, Won Hye Su |
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 |
Genotype-phenotype associations in familial exudative vitreoretinopathy: A systematic review and meta-analysis on more than 3200 individuals. PloS one 2022 7 17 (7): e0271326. Wang Xiaona, Chen Jun, Xiong Hui, Yu Xuh |
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 |
Plasma Drug Concentration of Propranolol and Genetic Study in Chinese Han Patients With Infantile Haemangioma. Frontiers in pediatrics 2022 5 10 849496. Li Li, Yu Lu, He Huan, Wei Li, Xu Zigang, Zhao Libo, Sun Yujuan, Zhang Bin, Liu Yuanxiang, He Rui, Wang Xiaoling, Ma L |
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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- Page last updated:Apr 29, 2024
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