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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 - 5 (of 5 Records)

Query Trace: Juvenile Retinoschisis[original query]
Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.
Molecular vision 2007 13 (): 611-7.
Suganthalakshmi Balasubbu, Shukla Dhananjay, Rajendran Anand, Kim Ramasamy, Nallathambi Jeyabalan, Sundaresan Periasa
Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China.
Acta ophthalmologica 2020 10 99 (4): e470-e479.
Gao Feng-Juan, Dong Jian-Hong, Wang Dan-Dan, Chen Fang, Hu Fang-Yuan, Chang Qing, Xu Ping, Liu Wei, Li Jian-Kang, Huang Ying, Wu Ji-Hong, Xu Ge-Z
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.
Ophthalmic genetics 2022 11 44 (1): 35-42.
Fortunato P, Pagliazzi A, Bargiacchi S, Marziali E, Sodi A, Caputo R, Passerini I, Pelo E, Bacci G
Genotype-Phenotype Correlations in 83 Korean X-linked Retinoschisis Patients: Impact of RS1 Secretion Profiles on Clinical Phenotypes.
Ophthalmology. Retina 2024 9 .
Seok Jae Lee, Hui Jiang, Hyun Chul Jeong, Dong Hyun Jo, Hyun Beom Song, Heon Yung Gee, Ki Hwang Lee, Jeong Hun K
The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis.
Scientific reports 2025 1 15 (1): 541.
Ragkit Suvannaboon, Aekkachai Tuekprakhon, Aulia Rahmi Pawestri, Phitchapa Pongpaksupasin, Adisak Trinavarat, La-Ongsri Atchaneeyasak
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