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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 9 (of 9 Records)

Query Trace: Leber Congenital Amaurosis and RDH12[original query]
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
American journal of human genetics 2004 Oct 75 (4): 639-46.
Perrault Isabelle, Hanein Sylvain, Gerber Sylvie, Barbet Fabienne, Ducroq Dominique, Dollfus Helene, Hamel Christian, Dufier Jean-Louis, Munnich Arnold, Kaplan Josseline, Rozet Jean-Mich
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
Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases.
Journal of human genetics 2016 Jul .
Sundaramurthy Srilekha, Swaminathan Meenakshi, Sen Parveen, Arokiasamy Tharigopala, Deshpande Swati, John Neetha, Gadkari Rupali A, Mannan Ashraf U, Soumittra Nagasa
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Retina (Philadelphia, Pa.) 2018 Aug .
Zou Xuan, Fu Qing, Fang Sha, Li Hui, Ge Zhongqi, Yang Lizhu, Xu Mingchu, Sun Zixi, Li Huajin, Li Yumei, Dong Fangtian, Chen Rui, Sui Ruifa
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy.
Ophthalmic genetics 2019 3 40 (2): 110-117.
Glen W Bailey, Peterseim M Millicent W, Badilla Ramses, Znoyko Iya, Bourg Andre, Wilson Robert, Hardiman Gary, Wolff Daynna, Martinez Joaqu
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
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
Ophthalmic genetics 2021 5 42 (4): 392-401.
Zhu Luyao, Ouyang Wangbin, Zhang Minfang, Wang Hao, Li Shiying, Meng Xiaohong, Yin Zheng Q
Clinical and genetic characterization of RDH12-retinal dystrophy in a South American cohort.
Ophthalmology. Retina 2023 9 .
Malena Daich Varela, Rene Moya, Rebeca Azevedo Souza Amaral, Patricio G Schlottmann, Alejandro Álvarez Mendiara, Aníbal Francone, Rosane Guazi Resende, Luciana Capalbo, Nancy Gelvez, Greizy López, Ana M Morales-Acevedo, Rafael H Ossa, Gavin Arno, Michel Michaelides, Martha L Tamayo, Juliana Maria Ferraz Sall
Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center.
Indian journal of ophthalmology 2024 12 .
Abhishek Upadhyaya, Srikanta Kr Padhy, Nithin Teja, Goura Chattannavar, Shreya Dutta, Venkatesh Pochaboina, Jeyapoorani Balasubramanian, Chitra Kannabiran, Brijesh Takkar, Manjushree Bhate, Subhadra Jalali, Deepika C Parameswarap
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