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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 6, 2023. (Total: 217697Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Retinoschisis and RS1[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
Molecular genetic characteristics of X-linked retinoschisis in Koreans.
Molecular vision 2009 15 833-43.
Kim So Yeon, Ko Hyun Soo, Yu Young Suk, Hwang Jeong-Min, Lee Jong Joo, Kim Sung Yeun, Kim Ji Yeon, Seong Moon-Woo, Park Kyu Hyung, Park Sung S
Clinical and molecular characterization of females affected by X-linked retinoschisis.
Clinical & experimental ophthalmology 2015 Apr .
Staffieri Sandra E, Rose Loreto, Chang Andrew, De Roach John N, McLaren Terri L, Mackey David A, Hewitt Alex W, Lamey Tina
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
Effect of light and diurnal variation on macular thickness in X-linked retinoschisis: a case series.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2020 1 258 (3): 529-536.
Rubinstein Yair, Weiner Chen, Chetrit Noa, Newman Hadas, Hecht Idan, Shoshany Nadav, Pras Er
Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish population.
Ophthalmic genetics 2021 Dec 1-8.
Cetin Gokhan Ozan, Cetin Ebru Nevin, Akyol Tunahan, Ilhan Hatice Deniz, Pekel Gokh
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Genes 2022 4 13 (4): .
Bender Chelsea, Woo Elizabeth Geena, Guan Bin, Ullah Ehsan, Feng Eric, Turriff Amy, Tumminia Santa J, Sieving Paul A, Cukras Catherine A, Hufnagel Robert
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
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