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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 - 13 (of 13 Records)

Query Trace: Disease and CRX[original query]
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
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
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
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
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
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,
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
Whole exome sequence analysis in 51?624 participants identifies novel genes and variants associated with refractive error and myopia. GWAS Catalog
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, ,
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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