Human Genome Epidemiology Literature Finder
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Records 1 - 27 (of 27 Records) |
| Query Trace: Disease and RP1[original query] |
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| Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Human mutation 2001 1 17 (1): 42-51. Sohocki M M, Daiger S P, Bowne S J, Rodriquez J A, Northrup H, Heckenlively J R, Birch D G, Mintz-Hittner H, Ruiz R S, Lewis R A, Saperstein D A, Sullivan L |
| [Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2002 Jun 19 (3): 194-7. Zhang Xiaoli, Yeung Kwun-Yan, Pang Chi-Pui, Fu Weili |
| HLA and cytokine gene polymorphisms in relation to occurrence of palindromic rheumatism and its progression to rheumatoid arthritis. The Journal of rheumatology 2002 Nov 29 (11): 2319-26. Maksymowych Walter P, Suarez-Almazor Maria E, Buenviaje Heidi, Cooper Bobbi-Lynn, Degeus Caroline, Thompson Michael, Russell Anthony |
| [Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong]. Zhonghua yi xue za zhi 2005 Jun 85 (23): 1613-7. Wang Dan-yi, Fan Bao-jian, Chan Wai-man, Tam Oi-sin, Chiang Wai-yee, Lam Shun-chiu, Pang Chi-p |
| Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. Molecular vision 2008 14 1105-13. Gandra M, Anandula V, Authiappan V, Sundaramurthy S, Raman R, Bhattacharya S, Govindasamy K |
| Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population. Investigative ophthalmology & visual science 2010 Apr 51 (4): 2229-35. Yang Yaping, Zhang Xin, Chen Li Jia, Chiang Sylvia W Y, Tam Pancy O S, Lai Timothy Y Y, Chan Carmen K M, Wang Ningli, Lam Dennis S C, Pang Chi P |
| Differential pattern of RP1 mutations in retinitis pigmentosa. Molecular vision 2010 16 1353-60. Zhang Xin, Chen Li Jia, Law Jonathan P, Lai Timothy Y Y, Chiang Sylvia W Y, Tam Pancy O S, Chu Kwan Yi, Wang Ningli, Zhang Mingzhi, Pang Chi P |
| Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa. Molecular vision 2012 18 2398-410. Kim Cinoo, Kim Kwang Joong, Bok Jeong, Lee Eun-Ju, Kim Dong-Joon, Oh Ji Hee, Park Sung Pyo, Shin Joo Young, Lee Jong-Young, Yu Hyeong G |
| 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 |
| A high IL-4 production diplotype is associated with an increased risk but better prognosis of oral and pharyngeal carcinomas. Archives of oral biology 2014 Jan 59 (1): 35-46. Yang Cheng-Mei, Chen Hung-Chih, Hou Yu-Yi, Lee Ming-Chien, Liou Huei-Han, Huang Sin-Jhih, Yen Liang-Ming, Eng Dong-Mei, Hsieh Yao-Dung, Ger Luo-Pi |
| RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. Human mutation 2012 Dec . Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR |
| High risk association of IL-4 VNTR polymorphism with asthma in a North Indian population. Cytokine 2014 Mar 66 (1): 87-94. Birbian Niti, Singh Jagtar, Jindal Surinder Kumar, Sobti Ranbir Chand |
| RP1-13D10.2 Is a Novel Modulator of Statin-Induced Changes in Cholesterol. Circulation. Cardiovascular genetics 2016 Apr . Mitchel Katrina, Theusch Elizabeth, Cubitt Celia, Dosé Andréa C, Stevens Kristen, Naidoo Devesh, Medina Marisa |
| Genome-wide Regional Heritability Mapping Identifies a Locus Within the TOX2 Gene Associated With Major Depressive Disorder. Biological psychiatry 2016 Dec . Zeng Yanni, Navarro Pau, Shirali Masoud, Howard David M, Adams Mark J, Hall Lynsey S, Clarke Toni-Kim, Thomson Pippa A, Smith Blair H, Murray Alison, Padmanabhan Sandosh, Hayward Caroline, Boutin Thibaud, MacIntyre Donald J, Lewis Cathryn M, Wray Naomi R, Mehta Divya, Penninx Brenda W J H, Milaneschi Yuri, Baune Bernhard T, Air Tracy, Hottenga Jouke-Jan, Mbarek Hamdi, Castelao Enrique, Pistis Giorgio, Schulze Thomas G, Streit Fabian, Forstner Andreas J, Byrne Enda M, Martin Nicholas G, Breen Gerome, Müller-Myhsok Bertram, Lucae Susanne, Kloiber Stefan, Domenici Enrico, , Deary Ian J, Porteous David J, Haley Chris S, McIntosh Andrew |
| A founder mutation in CERKL is a major cause of retinal dystrophy in Finland. Acta ophthalmologica 2017 10 96 (2): 183-191. Avela Kristiina, Sankila Eeva-Marja, Seitsonen Sanna, Kuuluvainen Liina, Barton Stephanie, Gillies Stuart, Aittomäki Kristii |
| Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families. Investigative ophthalmology & visual science 2018 5 59 (6): 2345-2354. Martin-Merida Inmaculada, Aguilera-Garcia Domingo, Fernandez-San Jose P, Blanco-Kelly Fiona, Zurita Olga, Almoguera Berta, Garcia-Sandoval Blanca, Avila-Fernandez Almudena, Arteche Ana, Minguez Pablo, Carballo Miguel, Corton Marta, Ayuso Carm |
| Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa. Genetic testing and molecular biomarkers 2018 2 22 (2): 109-114. Li Shujin, Yang Mu, Liu Wenjing, Liu Yuqing, Zhang Lin, Yang Yeming, Sundaresan Periasamy, Yang Zhenglin, Zhu Xianj |
Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.
Circulation 2019 Jan 139 (5): 620-635. Sabater-Lleal Maria, Huffman Jennifer E, de Vries Paul S, Marten Jonathan, Mastrangelo Michael A, Song Ci, Pankratz Nathan, Ward-Caviness Cavin K, Yanek Lisa R, Trompet Stella, Delgado Graciela E, Guo Xiuqing, Bartz Traci M, Martinez-Perez Angel, Germain Marine, de Haan Hugoline G, Ozel Ayse B, Polasek Ozren, Smith Albert V, Eicher John D, Reiner Alex P, Tang Weihong, Davies Neil M, Stott David J, Rotter Jerome I, Tofler Geoffrey H, Boerwinkle Eric, de Maat Moniek P M, Kleber Marcus E, Welsh Paul, Brody Jennifer A, Chen Ming-Huei, Vaidya Dhananjay, Soria José Manuel, Suchon Pierre, van Hylckama Vlieg Astrid, Desch Karl C, Kolcic Ivana, Joshi Peter K, Launer Lenore J, Harris Tamara B, Campbell Harry, Rudan Igor, Becker Diane M, Li Jun Z, Rivadeneira Fernando, Uitterlinden André G, Hofman Albert, Franco Oscar H, Cushman Mary, Psaty Bruce M, Morange Pierre-Emmanuel, McKnight Barbara, Chong Michael R, Fernandez-Cadenas Israel, Rosand Jonathan, Lindgren Arne, , Gudnason Vilmundur, Wilson James F, Hayward Caroline, Ginsburg David, Fornage Myriam, Rosendaal Frits R, Souto Juan Carlos, Becker Lewis C, Jenny Nancy S, März Winfried, Jukema J Wouter, Dehghan Abbas, Trégouët David-Alexandre, Morrison Alanna C, Johnson Andrew D, O'Donnell Christopher J, Strachan David P, Lowenstein Charles J, Smith Nicholas |
| A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. Nature communications 2019 6 10 (1): 2884. Nikopoulos Konstantinos, Cisarova Katarina, Quinodoz Mathieu, Koskiniemi-Kuendig Hanna, Miyake Noriko, Farinelli Pietro, Rehman Atta Ur, Khan Muhammad Imran, Prunotto Andrea, Akiyama Masato, Kamatani Yoichiro, Terao Chikashi, Miya Fuyuki, Ikeda Yasuhiro, Ueno Shinji, Fuse Nobuo, Murakami Akira, Wada Yuko, Terasaki Hiroko, Sonoda Koh-Hei, Ishibashi Tatsuro, Kubo Michiaki, Cremers Frans P M, Kutalik Zoltán, Matsumoto Naomichi, Nishiguchi Koji M, Nakazawa Toru, Rivolta Car |
| IL-1RN VNTR, IL-2(-330), and IL-4 VNTR gene polymorphisms in patients with chronic rhinosinusitis with sinonasal polyposis. Turkish journal of medical sciences 2019 Oct 49 (5): 1411-1417. Kuran Gökhan, Aslan Hüseyin, Hayto?lu Süheyl, Özalp Yüre?ir Özge, Tu? Bozdo?an Sevc |
| A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa. Japanese journal of ophthalmology 2020 3 64 (4): 346-350. Nishiguchi Koji Miura, Fujita Kosuke, Ikeda Yasuhiro, Kunikata Hiroshi, Koyanagi Yoshito, Akiyama Masato, Abe Toshiaki, Wada Yuko, Sonoda Koh-Hei, Nakazawa To |
| Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN. Journal of clinical medicine 2021 6 10 (11): . Mizobuchi Kei, Hayashi Takaaki, Oishi Noriko, Kubota Daiki, Kameya Shuhei, Higasa Koichiro, Futami Takuma, Kondo Hiroyuki, Hosono Katsuhiro, Kurata Kentaro, Hotta Yoshihiro, Yoshitake Kazutoshi, Iwata Takeshi, Matsuura Tomokazu, Nakano Tadas |
| 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 |
| LncRNA RP1-276N6.2 Expression and RP1-276N6.2 Gene Polymorphisms Contribute to the Risk of Coronary Artery Disease in Chinese Han Population. DNA and cell biology 2023 10 . Lijuan Chen, Mingming Zhao, Mingsha Zhou, Jia Luo, Shan Li, Xing Liu, Zheng Cheng, Yang Zhuo, Weiqi Zeng, Zhiyu Zhang, Li Zh |
| Genomic analysis of severe COVID-19 considering or not asthma comorbidity: GWAS insights from the BQC19 cohort. BMC genomics 2024 5 25 (1): 482. Omayma Amri, Anne-Marie Madore, Anne-Marie Boucher-Lafleur, Catherine Lapri |
| Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them. Scientific reports 2024 10 14 (1): 25119. Mi-Ae Jang, Jong Kwon Lee, Jong-Ho Park, Sungsoon Hwang, Young-Gon Kim, Jong-Won Kim, Youn-Ji Hong, Sang Jin Kim, Ja-Hyun Ja |
- Page last reviewed:Feb 1, 2024
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