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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 - 5 (of 5 Records)

Query Trace: Disease and PRPF8[original query]
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 2013 Sep 54 (9): 6255-61.
Sullivan Lori S, Bowne Sara J, Reeves Melissa J, Blain Delphine, Goetz Kerry, Ndifor Vida, Vitez Sally, Wang Xinjing, Tumminia Santa J, Daiger Stephen
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
Molecular vision 2013 19 654-64.
de Sousa Dias Miguel, Hernan Imma, Pascual Beatriz, Borràs Emma, Mañé Begoña, Gamundi Maria José, Carballo Migu
High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.
Scientific reports 2017 Jan 7 39652.
Ezquerra-Inchausti Maitane, Barandika Olatz, Anasagasti Ander, Irigoyen Cristina, López de Munain Adolfo, Ruiz-Ederra Javi
Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.
Frontiers in cell and developmental biology 2021 2 8 629994.
Xiao Ting, Xie Yue, Zhang Xin, Xu Ke, Zhang Xiaohui, Jin Zi-Bing, Li Ya
TP53 and RB1 alterations characterize poor prognostic subgroups in pediatric acute myeloid leukemia.
Genes, chromosomes & cancer 2023 4 .
Yusuke Hara, Norio Shiba, Kenichi Yoshida, Genki Yamato, Taeko Kaburagi, Yuichi Shiraishi, Kentaro Ohki, Yusuke Shiozawa, Machiko Kawamura, Hirohide Kawasaki, Manabu Sotomatsu, Takumi Takizawa, Hidemasa Matsuo, Akira Shimada, Nobutaka Kiyokawa, Daisuke Tomizawa, Takashi Taga, Etsuro Ito, Keizo Horibe, Satoru Miyano, Souichi Adachi, Tomohiko Taki, Seishi Ogawa, Yasuhide Hayas
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