Human Genome Epidemiology Literature Finder
|
Records 1 - 16 (of 16 Records) |
| Query Trace: Disease and PROM1[original query] |
|---|
| 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 |
| Cancer Stem Cell Gene Variants Predict Disease Recurrence in Patients Treated with Radical Prostatectomy for Prostate Cancer. International journal of medical sciences 2017 11 14 (12): 1301-1306. Lin Victor C, Huang Shu-Pin, Huang Chao-Yuan, Yu Chia-Cheng, Yin Hsin-Ling, Huang Tsung-Yi, Lee Cheng-Hsueh, Lu Te-Ling, Bao Bo-Yi |
| [Molecular genetic diagnosis of Stargardt disease]. Vestnik oftalmologii 2017 133 (4): 4-11. Sheremet N L, Zhorzholadze N V, Ronzina I A, Grushke I G, Kurbatov S A, Chukhrova A L, Loginova A N, Shcherbakova P O, Tanas A S, Polyakov A V, Strel'nikov V |
| PROM1 gene variations in Brazilian patients with macular dystrophy. Ophthalmic genetics 2017 1 38 (1): 39-42. Salles Mariana Vallim, Motta Fabiana Louise, Dias da Silva Elton, Varela Lima Teixeira Patricia, Antunes Costa Kárita, Filippelli-Silva Rafael, Martin Renan, Pesquero João Bosco, Ferraz Sallum Juliana Mar |
| Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing. Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 2018 Jul 1-11. Sung Youngje, Choi Seung Woo, Shim Sung Han, Song Won Kyu |
| Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population. American journal of medical genetics. Part C, Seminars in medical genetics 2020 8 184 (3): 656-674. Fujinami Kaoru, Oishi Akio, Yang Lizhu, Arno Gavin, Pontikos Nikolas, Yoshitake Kazutoshi, Fujinami-Yokokawa Yu, Liu Xiao, Hayashi Takaaki, Katagiri Satoshi, Mizobuchi Kei, Mizota Atsushi, Shinoda Kei, Nakamura Natsuko, Kurihara Toshihide, Tsubota Kazuo, Miyake Yozo, Iwata Takeshi, Tsujikawa Akitaka, Tsunoda Kazushige, |
| Novel variants associated with Stargardt disease in Chinese patients. Gene 2020 6 754 144890. Hu Fangyuan, Gao Fengjuan, Li Jiankang, Xu Ping, Wang Dandan, Chen Fang, Zhang Shenghai, Wu Jiho |
| Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease. Bioscience reports 2021 5 41 (6): . Qu Ling-Hui, Jin Xin, Zeng Chao, Zhou Nian-Gou, Liu Yan-Hong, Lin |
| Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients. Eye (London, England) 2021 4 36 (4): 749-759. Ng Tsz Kin, Cao Yingjie, Yuan Xiang-Ling, Chen Shaowan, Xu Yanxuan, Chen Shao-Lang, Zheng Yuqian, Chen Hao |
| Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients. Frontiers in genetics 2021 4 12 646058. Mena Marcela D, Moresco Angélica A, Vidal Sofía H, Aguilar-Cortes Diana, Obregon María G, Fandiño Adriana C, Sendoya Juan M, Llera Andrea S, Podhajcer Osvaldo |
| Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences. Breast cancer research : BCR 2021 1 23 (1): 1. Priedigkeit Nolan, Ding Kai, Horne William, Kolls Jay K, Du Tian, Lucas Peter C, Blohmer Jens-Uwe, Denkert Carsten, Machleidt Anna, Ingold-Heppner Barbara, Oesterreich Steffi, Lee Adrian |
| Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration. Genes 2023 9 14 (9): . Anna W?sowska, Adam Sendecki, Anna Boguszewska-Chachulska, S?awomir Tep |
| Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina. NPJ genomic medicine 2023 5 8 (1): 8. Patricio G Schlottmann, José D Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M Martin, Gerardo Juan Ormaechea, M Eugenia Inga, Aníbal A Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J Nuova, Ivana B Canonero, Omar A Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Vare |
| Relationship between genotype, phenotype, and refractive status in patients of inherited retinal degeneration. Eye (London, England) 2024 8 . Wan-Chen Tsai, Yao-Lin Liu, Tzu-Hsun Tsai, Ying-Ju Lai, Chang-Hao Yang, Chung-May Yang, Tzyy-Chang Ho, Chang-Ping Lin, Yi-Ting Hsieh, Po-Ting Yeh, Chao-Wen Lin, Tso-Ting Lai, Pei-Lung Chen, Ta-Ching Ch |
| Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies. Investigative ophthalmology & visual science 2024 5 65 (5): 9. Amit V Mishra, Sandra Vermeirsch, Siying Lin, Maria P Martin-Gutierrez, Mark Simcoe, Nikolas Pontikos, Elena Schiff, Thales A C de Guimarães, Pirro G Hysi, Michel Michaelides, Gavin Arno, Andrew R Webster, Omar A Mahr |
| GLI1 polymorphisms influence remission rate and prognosis of young de novo acute myeloid leukemia patients treated with cytarabine-based chemotherapy. Annals of hematology 2024 4 . Yanfeng Liu, Yi Liu, Peng Chen, Ge Chen, Xiaoping Ch |
- Page last reviewed:Feb 1, 2024
- Content source: