Human Genome Epidemiology Literature Finder
Records 1 - 14 (of 14 Records) |
Query Trace: Leber Congenital Amaurosis and GUCY2D[original query] |
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Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. Molecular vision 2009 15 1781-7. Sundaresan Periasamy, Vijayalakshmi P, Thompson Stewart, Ko Audrey C, Fingert John H, Stone Edwin |
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. PloS one 2013 8 (1): 1. Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM |
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis. Journal of ophthalmology 2015 2015 693468. Hosono Katsuhiro, Harada Yuko, Kurata Kentaro, Hikoya Akiko, Sato Miho, Minoshima Shinsei, Hotta Yoshihi |
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands. Experimental eye research 2016 08 149 93-99. Xu Yan, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Xin Wei, Wang Panfeng, Sun Wenmin, Huang Li, Guo Xiangming, Zhang Qingjio |
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2016 Nov 254 (11): 2227-2238. Wang Shiyuan, Zhang Qi, Zhang Xiang, Wang Zhaoyang, Zhao Peiqu |
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. Molecular vision 2017 10 23 649-659. Han Jinu, Rim John Hoon, Hwang In Sik, Kim Jieun, Shin Saeam, Lee Seung-Tae, Choi Jong R |
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. The British journal of ophthalmology 2019 10 104 (7): 932-937. Xu Ke, Xie Yue, Sun Tengyang, Zhang Xiaohui, Chen Chunjie, Li Ya |
Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases. PloS one 2020 9 15 (9): e0239748. Rashid Muhammad, Qasim Muhammad, Ishaq Rafaqat, Bukhari Shazia Anwer, Sajid Zureesha, Ashfaq Usman Ali, Haque Asma, Ahmed Zubair |
The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS. PloS one 2020 4 15 (4): e0231115. Feng Xue, Wei Tianying, Sun Junhui, Luo Yuqin, Huo Yanan, Yu Ping, Chen Jiao, Wei Xiaoming, Qi Ming, Ye Yingh |
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis. Molecular vision 2020 3 26 26-35. Surl Dongheon, Shin Saeam, Lee Seung-Tae, Choi Jong Rak, Lee Junwon, Byeon Suk Ho, Han Sueng-Han, Lim Hyun Taek, Han Ji |
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results. Orphanet journal of rare diseases 2020 2 15 (1): 32. Cho Ahra, Lima de Carvalho Jose Ronaldo, Tanaka Akemi J, Jauregui Ruben, Levi Sarah R, Bassuk Alexander G, Mahajan Vinit B, Tsang Stephen |
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA). Orphanet journal of rare diseases 2020 Dec 15 (1): 345. Skorczyk-Werner Anna, Niedziela Zuzanna, Stopa Marcin, Krawczy?ski Maciej Robe |
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS. Journal of applied genetics 2022 11 64 (1): 89-104. Skorczyk-Werner Anna, Sowi?ska-Seidler Anna, Wawrocka Anna, Walczak-Sztulpa Joanna, Krawczy?ski Maciej Robe |
Comprehensive genotyping and phenotyping analysis of GUCY2D-associated rod- and cone-dominated dystrophies. American journal of ophthalmology 2023 6 . Cristina Rodilla, Inmaculada Martín-Merida, Fiona Blanco-Kelly, María José Trujillo-Tiebas, Almudena Avila-Fernandez, Rosa Riveiro-Alvarez, Marta Del Pozo-Valero, Irene Perea-Romero, Saoud T Swafiri, Olga Zurita, Cristina Villaverde, Miguel A López, Raquel Romero, Ionut Florin Iancu, Gonzalo Núñez-Moreno, Belén Jiménez-Rolando, María Pilar Martin-Gutierrez, Ester Carreño, Pablo Minguez, Blanca García-Sandoval, Carmen Ayuso, Marta Cort |
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- Page last updated:Apr 22, 2024
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