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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 10 (of 10 Records)

Query Trace: Norrie Disease[original query]
Retinopathy of prematurity: mutations in the Norrie disease gene and the risk of progression to advanced stages.
Pediatrics international : official journal of the Japan Pediatric Society 2001 Apr 43 (2): 120-3.
Haider MZ, Devarajan LV, Al-Essa M, Srivastva BS, Kumar H, Azad R, Rashwan N
Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity.
Journal of human genetics 2001 46 (4): 178-81.
Hiraoka M, Berinstein D M, Trese M T, Shastry B
A C597-->A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants.
Journal of biomedical science 0 9 (4): 365-70.
Haider M Z, Devarajan L V, Al-Essa M, Kumar
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
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
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
Comprehensive analysis of syndromic hearing loss patients in Japan.
Scientific reports 2019 8 9 (1): 11976.
Ideura Michie, Nishio Shin-Ya, Moteki Hideaki, Takumi Yutaka, Miyagawa Maiko, Sato Teruyuki, Kobayashi Yumiko, Ohyama Kenji, Oda Kiyoshi, Matsui Takamichi, Ito Tsukasa, Suzumura Hiroshi, Nagai Kyoko, Izumi Shuji, Nishiyama Nobuhiro, Komori Manabu, Kumakawa Kozo, Takeda Hidehiko, Kishimoto Yoko, Iwasaki Satoshi, Furutate Sakiko, Ishikawa Kotaro, Fujioka Masato, Nakanishi Hiroshi, Nakayama Jun, Horie Rie, Ohta Yumi, Naito Yasushi, Kakudo Mariko, Sakaguchi Hirofumi, Kataoka Yuko, Sugahara Kazuma, Hato Naohito, Nakagawa Takashi, Tsuchihashi Nana, Kanda Yukihiko, Kihara Chiharu, Tono Tetsuya, Miyanohara Ikuyo, Ganaha Akira, Usami Shin-Ic
Norrie disease gene polymorphism in Indonesian infants with retinopathy of prematurity.
BMJ open ophthalmology 2019 4 4 (1): e000211.
Siswanto J Edy, Ronoatmodjo Sudarto, Sitorus Rita S, Soemantri Ag, Setijaningsih Iswari, Sauer Pieter J
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 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
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