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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 30, 2023. (Total: 223474Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Vision and ND4[original query]
The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation.
Investigative ophthalmology & visual science 2006 1 47 (2): 475-83.
Qu Jia, Li Ronghua, Zhou Xiangtian, Tong Yi, Lu Fan, Qian Yaping, Hu Yongwu, Mo Jun Qin, West Constance E, Guan Min-X
CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING.
Retina (Philadelphia, Pa.) 2016 Oct .
Hafler Brian
Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability.
Human molecular genetics 2018 03 27 (5): 891-900.
Valiente-Pallejà Alba, Torrell Helena, Muntané Gerard, Cortés Maria J, Martínez-Leal Rafael, Abasolo Nerea, Alonso Yolanda, Vilella Elisabet, Martorell Lourd
Long-term screening for primary mitochondrial DNA variants associated with Leber hereditary optic neuropathy: incidence, penetrance and clinical features.
Mitochondrion 2020 8 54 128-132.
Marotta Rosetta, Chin Judy, Chiotis Maria, Shuey Neil, Collins Steven
Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene.
Ophthalmic genetics 2021 4 42 (4): 440-445.
Vandeputte Justine, Van Heetvelde Mattias, Van Cauwenbergh Caroline, Seneca Sara, De Baere Elfride, Leroy Bart P, De Zaeytijd Jul
Mutation profile of neurodegenerative mitochondriopathy - LHON in Southern India.
Gene 2022 Apr 819 146202.
Gowri Poigaialwar, Sathish Ponraj, Mahesh Kumar Shanmugam, Sundaresan Periasa
Prevalence of primary mutations in Leber hereditary optic neuropathy: A five-year report from a tertiary eye care center in India.
Molecular vision 2022 1 27 718-724.
Sundaramurthy Srilekha, Selvakumar Ambika, Dharani Vidhya, Soumittra Nagasamy, Mani Jayaprakash, Thirumalai Karthiyayini, Periyasamy Porkodi, Mathavan Sinnakaruppan, Sripriya Sarangapa
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