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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 18, 2024. (Total: 231582Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Retinal Degeneration and PRPH2[original query]
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
Investigative ophthalmology & visual science 2014 Sep 55 (9): 5510-21.
Alapati Akhila, Goetz Kerry, Suk John, Navani Mili, Al-Tarouti Amani, Jayasundera Thiran, Tumminia Santa J, Lee Pauline, Ayyagari Rad
Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.
Molecular vision 2016 22 150-60.
Oishi Maho, Oishi Akio, Gotoh Norimoto, Ogino Ken, Higasa Koichiro, Iida Kei, Makiyama Yukiko, Morooka Satoshi, Matsuda Fumihiko, Yoshimura Nagahi
A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping.
Investigative ophthalmology & visual science 2019 8 60 (10): 3388-3397.
Charbel Issa Peter, Gliem Martin, Yusuf Imran H, Birtel Johannes, Müller Philipp L, Mangold Elisabeth, Downes Susan M, MacLaren Robert E, Betz Christian, Bolz Hanno
Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.
Human mutation 2020 6 41 (9): 1528-1539.
Reeves Melissa J, Goetz Kerry E, Guan Bin, Ullah Ehsan, Blain Delphine, Zein Wadih M, Tumminia Santa J, Hufnagel Robert
Genetic factors associated with age-related macular degeneration: identification of a novel PRPH2 single nucleotide polymorphism associated with increased risk of the disease.
Acta ophthalmologica 2020 Dec .
Ula?czyk Zofia, Grabowicz Aleksandra, Mozolewska-Piotrowska Katarzyna, Safranow Krzysztof, Kawa Mi?osz Piotr, Pa?ucha Andrzej, Krawczyk Mariusz, Sikora Piotr, Matczy?ska Ewa, Machali?ski Bogus?aw, Machali?ska An
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
PLoS genetics 2022 3 18 (3): e1010129.
Zernant Jana, Lee Winston, Wang Jun, Goetz Kerry, Ullah Ehsan, Nagasaki Takayuki, Su Pei-Yin, Fishman Gerald A, Tsang Stephen H, Tumminia Santa J, Brooks Brian P, Hufnagel Robert B, Chen Rui, Allikmets Ran
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