Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Retinal Degeneration and USH2A[original query] |
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A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. European journal of human genetics : EJHG 2015 Oct 23 (10): 1318-27. Lenassi Eva, Vincent Ajoy, Li Zheng, Saihan Zubin, Coffey Alison J, Steele-Stallard Heather B, Moore Anthony T, Steel Karen P, Luxon Linda M, Héon Elise, Bitner-Glindzicz Maria, Webster Andrew |
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 |
Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent. Ophthalmic genetics 2017 Sep 1-7. Villanueva Adda, Biswas Pooja, Kishaba Kameron, Suk John, Tadimeti Keerti, Raghavendra Pongali B, Nadeau Karine, Lamontagne Bruno, Busque Lambert, Geoffroy Steve, Mongrain Ian, Asselin Géraldine, Provost Sylvie, Dubé Marie-Pierre, Nudleman Eric, Ayyagari Rad |
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237. Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya |
Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole?exome sequencing. Molecular medicine reports 2018 10 18 (6): 5016-5022. Fu Yue-Chuan, Chen Na, Qiu Zi-Long, Liu Lin, Shen J |
Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy. Genes 2019 11 10 (12): . Fakin Ana, Šuštar Maja, Brecelj Jelka, Bonnet Crystel, Petit Christine, Zupan Andrej, Glava? Damjan, Jarc-Vidmar Martina, Battelino Saba, Hawlina Mar |
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations. Genetics in medicine : official journal of the American College of Medical Genetics 2020 2 22 (6): 1079-1087. Zampaglione Erin, Kinde Benyam, Place Emily M, Navarro-Gomez Daniel, Maher Matthew, Jamshidi Farzad, Nassiri Sherwin, Mazzone J Alex, Finn Caitlin, Schlegel Dana, Comander Jason, Pierce Eric A, Bujakowska Kinga |
Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients. International journal of molecular sciences 2020 10 21 (21): . Inaba Akira, Maeda Akiko, Yoshida Akiko, Kawai Kanako, Hirami Yasuhiko, Kurimoto Yasuo, Kosugi Shinji, Takahashi Masa |
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study. Human mutation 2022 3 43 (5): 613-624. Hufnagel Robert B, Liang Wendi, Duncan Jacque L, Brewer Carmen C, Audo Isabelle, Ayala Allison R, Branham Kari, Cheetham Janet K, Daiger Stephen P, Durham Todd A, Guan Bin, Heon Elise, Hoyng Carel B, Iannaccone Alessandro, Kay Christine N, Michaelides Michel, Pennesi Mark E, Singh Mandeep S, Ullah Ehsan, |
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- Page last updated:Apr 29, 2024
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