Human Genome Epidemiology Literature Finder
Records 1 - 29 (of 29 Records) |
Query Trace: CRX[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 |
Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease. Molecular vision 2007 13 (): 287-92. Gao Yong-Qing, Danciger Michael, Ozgul Riza Köksal, Gribanova Yekaterina, Jacobson Samuel, Farber Debora |
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 |
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. Ophthalmology 2010 1 117 (6): 1190-8. Walia Saloni, Fishman Gerald A, Jacobson Samuel G, Aleman Tomas S, Koenekoop Robert K, Traboulsi Elias I, Weleber Richard G, Pennesi Mark E, Heon Elise, Drack Arlene, Lam Byron L, Allikmets Rando, Stone Edwin |
Polymorphisms of angiotensin II type 1 receptor gene and those of angiotensinogen point at culprit artery in ST-segment elevation myocardial infarction. Gene 2012 May 500 (1): 148-50. Konopka Anna, Szperl Ma?gorzata, Piotrowski Walerian, St?pi?ska Jani |
De novo mutations in the cone-rod homeobox gene associated with leber congenital amaurosis in Chinese patients. Ophthalmic genetics 2015 Mar 36 (1): 21-6. Zou Xuan, Yao Fengxia, Liang Xiaofang, Xu Fei, Li Hui, Sui Ruifang, Dong Fangti |
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 |
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 |
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. Experimental eye research 2016 Mar . Huang Li, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Sun Wenmin, Xu Yan, Xin Wei, Guo Xiangming, Zhang Qingjio |
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 |
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. Molecular vision 2017 10 23 649-659. Han Jinu, Rim John Hoon, Hwang In Sik, Kim Jieun, Shin Saeam, Lee Seung-Tae, Choi Jong R |
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 |
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. PloS one 2018 12 13 (12): e0207958. Birtel Johannes, Gliem Martin, Mangold Elisabeth, Müller Philipp L, Holz Frank G, Neuhaus Christine, Lenzner Steffen, Zahnleiter Diana, Betz Christian, Eisenberger Tobias, Bolz Hanno J, Charbel Issa Pet |
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients. Journal of medical genetics 2019 Jun . Koyanagi Yoshito, Akiyama Masato, Nishiguchi Koji M, Momozawa Yukihide, Kamatani Yoichiro, Takata Sadaaki, Inai Chihiro, Iwasaki Yusuke, Kumano Mikako, Murakami Yusuke, Omodaka Kazuko, Abe Toshiaki, Komori Shiori, Gao Dan, Hirakata Toshiaki, Kurata Kentaro, Hosono Katsuhiro, Ueno Shinji, Hotta Yoshihiro, Murakami Akira, Terasaki Hiroko, Wada Yuko, Nakazawa Toru, Ishibashi Tatsuro, Ikeda Yasuhiro, Kubo Michiaki, Sonoda Koh-H |
Retinal dystrophies with bull's-eye maculopathy along with negative ERGs. Documenta ophthalmologica. Advances in ophthalmology 2019 4 139 (1): 45-57. Nasser F, Kurtenbach A, Kohl S, Obermaier C, Stingl K, Zrenner |
A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants. Genetics in medicine : official journal of the American College of Medical Genetics 2019 3 21 (10): 2336-2344. Wolock Charles J, Stong Nicholas, Ma Chu Jian, Nagasaki Takayuki, Lee Winston, Tsang Stephen H, Kamalakaran Sitharthan, Goldstein David B, Allikmets Ran |
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies. International journal of molecular sciences 2019 10 20 (19): . Boulanger-Scemama Elise, Mohand-Saïd Saddek, El Shamieh Said, Démontant Vanessa, Condroyer Christel, Antonio Aline, Michiels Christelle, Boyard Fiona, Saraiva Jean-Paul, Letexier Mélanie, Sahel José-Alain, Zeitz Christina, Audo Isabel |
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis. Experimental eye research 2019 10 189 107846. Yi Zhen, Xiao Xueshan, Li Shiqiang, Sun Wenmin, Zhang Qingjio |
Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy. American journal of medical genetics. Part C, Seminars in medical genetics 2020 8 184 (3): 708-717. Hull Sarah, Kiray Gulunay, Chiang John Pei-Wen, Vincent Andrea |
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association. Scientific reports 2020 6 10 (1): 9531. Fujinami-Yokokawa Yu, Fujinami Kaoru, Kuniyoshi Kazuki, Hayashi Takaaki, Ueno Shinji, Mizota Atsushi, Shinoda Kei, Arno Gavin, Pontikos Nikolas, Yang Lizhu, Liu Xiao, Sakuramoto Hiroyuki, Katagiri Satoshi, Mizobuchi Kei, Kominami Taro, Terasaki Hiroko, Nakamura Natsuko, Kameya Shuhei, Yoshitake Kazutoshi, Miyake Yozo, Kurihara Toshihide, Tsubota Kazuo, Miyata Hiroaki, Iwata Takeshi, Tsunoda Kazushige, |
Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram. Clinical & experimental ophthalmology 2020 3 48 (5): 644-657. Nishiguchi Koji M, Kunikata Hiroshi, Fujita Kosuke, Hashimoto Kazuki, Koyanagi Yoshito, Akiyama Masato, Ikeda Yasuhiro, Momozawa Yukihide, Sonoda Koh-Hei, Murakami Akira, Wada Yuko, Nakazawa To |
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA). Orphanet journal of rare diseases 2020 Dec 15 (1): 345. Skorczyk-Werner Anna, Niedziela Zuzanna, Stopa Marcin, Krawczy?ski Maciej Robe |
Regional differences in genes and variants causing retinitis pigmentosa in Japan. Japanese journal of ophthalmology 2021 2 65 (3): 338-343. Koyanagi Yoshito, Akiyama Masato, Nishiguchi Koji M, Momozawa Yukihide, Kamatani Yoichiro, Takata Sadaaki, Inai Chihiro, Iwasaki Yusuke, Kumano Mikako, Murakami Yusuke, Komori Shiori, Gao Dan, Kurata Kentaro, Hosono Katsuhiro, Ueno Shinji, Hotta Yoshihiro, Murakami Akira, Terasaki Hiroko, Wada Yuko, Nakazawa Toru, Ishibashi Tatsuro, Ikeda Yasuhiro, Kubo Michiaki, Sonoda Koh-H |
Association analyses of rare variants identify two genes associated with refractive error. PloS one 2022 17 (9): e0272379. Patasova Karina, Haarman Annechien E G, Musolf Anthony M, Mahroo Omar A, Rahi Jugnoo S, Falchi Mario, Verhoeven Virginie J M, Bailey-Wilson Joan E, Klaver Caroline C W, Duggal Priya, Klein Alison, Guggenheim Jeremy A, Hammond Chris J, Hysi Pirro G, |
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS. Journal of applied genetics 2022 11 64 (1): 89-104. Skorczyk-Werner Anna, Sowi?ska-Seidler Anna, Wawrocka Anna, Walczak-Sztulpa Joanna, Krawczy?ski Maciej Robe |
Whole exome sequence analysis in 51?624 participants identifies novel genes and variants associated with refractive error and myopia.
Human molecular genetics 2022 1 31 (11): 1909-1919. Guggenheim Jeremy A, Clark Rosie, Cui Jiangtian, Terry Louise, Patasova Karina, Haarman Annechien E G, Musolf Anthony M, Verhoeven Virginie J M, Klaver Caroline C W, Bailey-Wilson Joan E, Hysi Pirro G, Williams Cathy, , |
Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans. Genes 2023 5 14 (5): . Dong Geun Kim, Kwangsic Joo, Jinu Han, Mihyun Choi, Seong-Woo Kim, Kyu Hyung Park, Sang Jun Park, Christopher Seungkyu Lee, Suk Ho Byeon, Se Joon W |
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases. Investigative ophthalmology & visual science 2023 2 64 (2): 5. Li Wei, He Xiang-Dong, Yang Zheng-Tao, Han Dong-Ming, Sun Yan, Chen Yan-Xian, Han Xiao-Tong, Guo Si-Cheng, Ma Yu-Ting, Jin Xin, Yang Huan-Ming, Gao Ya, Wang Zhuo-Shi, Li Jian-Kang, He W |
Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5. Genes 2023 10 14 (10): . Yu Fujinami-Yokokawa, Lizhu Yang, Kwangsic Joo, Kazushige Tsunoda, Xiao Liu, Mineo Kondo, Seong Joon Ahn, Hui Li, Kyu Hyung Park, Hisateru Tachimori, Hiroaki Miyata, Se Joon Woo, Ruifang Sui, Kaoru Fujina |
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- Page last updated:Apr 22, 2024
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