Human Genome Epidemiology Literature Finder
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Records 1 - 23 (of 23 Records) |
| Query Trace: Aniridia 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 novel missense mutation (Leu46Val) of PAX6 found in an autistic patient. Neuroscience letters 2009 Oct 462 (3): 267-71. Maekawa Motoko, Iwayama Yoshimi, Nakamura Kazuhiko, Sato Miho, Toyota Tomoko, Ohnishi Tetsuo, Yamada Kazuo, Miyachi Taishi, Tsujii Masatsugu, Hattori Eiji, Maekawa Nobuo, Osumi Noriko, Mori Norio, Yoshikawa Tak |
| Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Investigative ophthalmology & visual science 2009 Jun 50 (6): 2581-90. Hingorani Melanie, Williamson Kathleen A, Moore Anthony T, van Heyningen Veroni |
| Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. Molecular vision 2009 15 . Zhang Xiaohui, Li Shiqiang, Xiao Xueshan, Jia Xiaoyun, Wang Panfeng, Shen Huangxuan, Guo Xiangming, Zhang Qingjio |
| Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia. Molecular vision 2015 21 88-97. Dubey Sushil Kumar, Mahalaxmi Nagasubramanian, Vijayalakshmi Perumalsamy, Sundaresan Periasa |
| Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract. Molecular medicine reports 2018 Sep . Lin Ying, Gao Hongbin, Zhu Yi, Chen Chuan, Li Tao, Liu Bingqian, Lyu Cancan, Huang Ying, Li Haichun, Wu Qingxiu, Jin Chenjin, Liang Xiaoling, Huang Xinhua, Lu L |
| A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia. Ophthalmic genetics 2018 6 39 (4): 428-436. Liu Xiaoqi, Wu Yaqi, Miao Zequn, Zhang Houbin, Gong Bo, Zhu Xianjun, Huang Lulin, Shi Yi, Hao Fang, Ma Shi, Lin He, Wang Lejin, Yang Zhengl |
| Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation. Molecular medicine reports 2018 6 18 (2): 1623-1627. Syrimis Andreas, Nicolaou Nayia, Alexandrou Angelos, Papaevripidou Ioannis, Nicolaou Michael, Loukianou Eleni, Sismani Carolina, Malas Stavros, Christophidou-Anastasiadou Violetta, Tanteles George |
| PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia. Molecular vision 2018 4 24 261-273. Souzeau Emmanuelle, Rudkin Adam K, Dubowsky Andrew, Casson Robert J, Muecke James S, Mancel Erica, Whiting Mark, Mills Richard A D, Burdon Kathryn P, Craig Jamie |
| 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 |
| Analysis of genotype-phenotype correlations in PAX6-associated aniridia. Journal of medical genetics 2020 5 58 (4): 270-274. Vasilyeva Tatyana A, Marakhonov Andrey V, Voskresenskaya Anna A, Kadyshev Vitaly V, Käsmann-Kellner Barbara, Sukhanova Natella V, Katargina Lyudmila A, Kutsev Sergey I, Zinchenko Rena |
| Abnormal neovascular and proliferative conjunctival phenotype in limbal stem cell deficiency is associated with altered microRNA and gene expression modulated by PAX6 mutational status in congenital aniridia. The ocular surface 2020 5 19 115-127. Latta L, Ludwig N, Krammes L, Stachon T, Fries F N, Mukwaya A, Szentmáry N, Seitz B, Wowra B, Kahraman M, Keller A, Meese E, Lagali N, Käsmann-Kellner |
| Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia. Molecular vision 2020 3 26 226-234. You Bing, Zhang Xiaohui, Xu Ke, Xie Yue, Ye Hanwen, Li Ya |
| Heterozygous PAX6 mutations may lead to hyper-proinsulinaemia and glucose intolerance: A case-control study in families with congenital aniridia. Diabetic medicine : a journal of the British Diabetic Association 2020 11 38 (2): e14456. Tian Wei, Zhu Xiao-Rong, Qiao Chun-Yan, Ma Ying-Nan, Yang Fang-Yuan, Zhou Zhen, Feng Jian-Ping, Sun Ran, Xie Rong-Rong, Lu Jing, Cao Xi, Zhou Jian-Bo, Yang Jin-K |
| Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement. Investigative ophthalmology & visual science 2021 8 62 (10): 23. Jiang Yi, Li Shiqiang, Xiao Xueshan, Sun Wenmin, Zhang Qingjio |
| A novel 4.25?kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus. BMC ophthalmology 2021 10 21 (1): 353. Qian Tianwei, Chen Chong, Li Caihua, Gong Qiaoyun, Liu Kun, Wang Gao, Schrauwen Isabelle, Xu X |
| Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World's Population and the Human Genome. International journal of molecular sciences 2022 Jun 23 (12): . Vasilyeva Tatyana A, Marakhonov Andrey V, Kutsev Sergey I, Zinchenko Rena |
| Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene. European journal of human genetics : EJHG 2022 10 31 (1): 89-96. Boehm Bernhard O, Kratzer Wolfgang, Bansal Vik |
| A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD. BMC medical genomics 2023 8 16 (1): 182. Qian Wang, Wen Bin Wei, Xiang Yu Shi, Wei Ning Ro |
| 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 |
| Novel variants in the PAX6 gene related to isolated aniridia. Congenital anomalies 2023 5 . Katarzyna Kuchalska, Anna Wawrocka, Maciej R Krawczyns |
| 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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 18, 2023
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