Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Syndrome and PAX6[original query] |
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| Brain-derived neurotrophic factor and obesity in the WAGR syndrome. The New England journal of medicine 2008 Aug 359 (9): 918-27. Han Joan C, Liu Qing-Rong, Jones MaryPat, Levinn Rebecca L, Menzie Carolyn M, Jefferson-George Kyra S, Adler-Wailes Diane C, Sanford Ethan L, Lacbawan Felicitas L, Uhl George R, Rennert Owen M, Yanovski Jack |
| A common functional regulatory variant at a type 2 diabetes locus upregulates ARAP1 expression in the pancreatic beta cell. American journal of human genetics 2014 Feb 94 (2): 186-97. Kulzer Jennifer R, Stitzel Michael L, Morken Mario A, Huyghe Jeroen R, Fuchsberger Christian, Kuusisto Johanna, Laakso Markku, Boehnke Michael, Collins Francis S, Mohlke Karen |
| Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism. Fertility and sterility 2018 8 110 (3): 486-495.e5. Zhou Chengming, Niu Yonghua, Xu Hao, Li Zongzhe, Wang Tao, Yang Weimin, Wang Shaogang, Wang Dao Wen, Liu Jiho |
| Delayed Onset of Sleep in Adolescents With PAX6 Haploinsufficiency. Biological research for nursing 2018 1 20 (2): 237-243. Hanish Alyson E, Han Joan |
| A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977?kb deletion in the 11p13 region. BMC medical genomics 2020 9 13 (Suppl 8): 130. Vasilyeva Tatyana A, Marakhonov Andrey V, Minzhenkova Marina E, Markova Zhanna G, Petrova Nika V, Sukhanova Natella V, Koshkin Philipp A, Pyankov Denis V, Kanivets Ilya V, Korostelev Sergey A, Krynskaya Irina A, Shilova Nadezhda V, Kutsev Sergey I, Kadyshev Vitaly V, Zinchenko Rena |
| Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study. Ophthalmology 2022 2 129 (6): 708-718. Kuht Helen J, Maconachie Gail D E, Han Jinu, Kessel Line, van Genderen Maria M, McLean Rebecca J, Hisaund Michael, Tu Zhanhan, Hertle Richard W, Gronskov Karen, Bai Dayong, Wei Aihua, Li Wei, Jiao Yonghong, Smirnov Vasily, Choi Jae-Hwan, Tobin Martin D, Sheth Viral, Purohit Ravi, Dawar Basu, Girach Ayesha, Strul Sasha, May Laura, Chen Fred K, Heath Jeffery Rachael C, Aamir Abdullah, Sano Ronaldo, Jin Jing, Brooks Brian P, Kohl Susanne, Arveiler Benoit, Montoliu Lluis, Engle Elizabeth C, Proudlock Frank A, Nishad Garima, Pani Prateek, Varma Girish, Gottlob Irene, Thomas Mervyn |
| Visual Acuity in Aniridia and WAGR Syndrome. Clinical ophthalmology (Auckland, N.Z.) 2023 5 17 1255-1261. Michael A Krause, Kelly L Trout, James D Lauderdale, Peter A Netla |
| 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 |
| Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients. Orphanet journal of rare diseases 2024 10 19 (1): 394. Li Wang, Qingdan Xu, Wentao Wang, Xinghuai Sun, Yuhong Ch |
| Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia. Journal of translational medicine 2024 1 22 (1): 75. Yi Jiang, Xueshan Xiao, Wenmin Sun, Yingwei Wang, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J Fielding Hejtmancik, Qingjiong Zha |
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