Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 78 Records) |
Query Trace: PAX6[original query] |
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Genetic testing in fetuses with isolated agenesis of the corpus callosum. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2019 8 34 (14): 2227-2234. She Qin, Fu Fang, Guo Xiaoyan, Tan Weihe, Liao C |
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 |
Evaluation of the genetic association between early-onset primary angle-closure glaucoma and retinitis pigmentosa. Experimental eye research 2020 6 197 108118. Liu Xing, Li Jiali, Lin Shufen, Xiao Xueshan, Luo Jingyi, Wei Wei, Ling Yunlan, Fang Lei, Xiao Hui, Chen Liming, Huang Jingjing, Zhong Yimin, Zhang Qingjio |
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 |
Bioinformatics Analysis and Identification of Underlying Biomarkers Potentially Linking Allergic Rhinitis and Asthma. Medical science monitor : international medical journal of experimental and clinical research 2020 5 26 e924934. Yan Zhanfeng, Liu Lili, Jiao Lulu, Wen Xiaohui, Liu Jianhua, Wang Ning |
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 |
The Correlation of ELP4-PAX6 With Rolandic Spike Sources in Idiopathic Rolandic Epilepsy Syndromes. Frontiers in neurology 2021 4 12 643964. Duan Yiran, Leng Xuerong, Liu Chunyan, Qi Xiaohong, Zhang Liping, Tan Wenjun, Zhang Xiating, Wang Yupi |
Single-Nucleotide Variants in microRNAs Sequences or in their Target Genes Might Influence the Risk of Epilepsy: A Review. Cellular and molecular neurobiology 2021 Mar . Buainain Renata Parissi, Boschiero Matheus Negri, Camporeze Bruno, de Aguiar Paulo Henrique Pires, Marson Fernando Augusto Lima, Ortega Manoela Marqu |
Association of hsa-mir-328-3p Expression in Whole Blood With Optical Density of Retinal Pigment Epithelial Cells. In vivo (Athens, Greece) 2021 2 35 (2): 827-831. Kunceviciene Edita, Budiene Brigita, Smalinskiene Alina, Vilkeviciute Alvita, Liutkeviciene Ra |
Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism. Ophthalmic genetics 2021 2 42 (3): 243-251. Ehrenberg Miriam, Bagdonite-Bejarano Laura, Fulton Anne B, Orenstein Naama, Yahalom Claud |
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 |
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Clinical genetics 2022 2 101 (5-6): 494-506. Chesneau Bertrand, Aubert-Mucca Marion, Fremont Félix, Pechmeja Jacmine, Soler Vincent, Isidor Bertrand, Nizon Mathilde, Dollfus Hélène, Kaplan Josseline, Fares-Taie Lucas, Rozet Jean-Michel, Busa Tiffany, Lacombe Didier, Naudion Sophie, Amiel Jeanne, Rio Marlène, Attie-Bitach Tania, Lesage Cécile, Thouvenin Dominique, Odent Sylvie, Morel Godelieve, Vincent-Delorme Catherine, Boute Odile, Vanlerberghe Clémence, Dieux Anne, Boussion Simon, Faivre Laurence, Pinson Lucile, Laffargue Fanny, Le Guyader Gwenaël, Le Meur Guylène, Prieur Fabienne, Lambert Victor, Laudier Beatrice, Cottereau Edouard, Ayuso Carmen, Corton-Pérez Marta, Bouneau Laurence, Le Caignec Cédric, Gaston Véronique, Jeanton-Scaramouche Claire, Dupin-Deguine Delphine, Calvas Patrick, Chassaing Nicolas, Plaisancié Jul |
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 |
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 |
Breast cancer-associated SNP rs72755295 is a cis-regulatory variation for human EXO1. Genetics and molecular biology 2022 45 (4): e20210420. Shi Qiang, Yao Xing-Yuan, Wang Hong-Yan, Li Ya-Jie, Zhang Xin-Xin, Sun Cha |
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas. PloS one 2022 17 (1): e0251286. Rudd Meghan L, Hansen Nancy F, Zhang Xiaolu, Urick Mary Ellen, Zhang Suiyuan, Merino Maria J, , Mullikin James C, Brody Lawrence C, Bell Daphne |
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes. Human genetics 2023 9 . Sarah W Curtis, Jenna C Carlson, Terri H Beaty, Jeffrey C Murray, Seth M Weinberg, Mary L Marazita, Justin L Cotney, David J Cutler, Michael P Epstein, Elizabeth J Lesl |
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 |
Association of Polymorphisms in ZFHX1B and PAX6 With Anisometropia in Chinese Children: The Hong Kong Children Eye Genetics Study. Investigative ophthalmology & visual science 2023 6 64 (7): 6. Yu Yao Wang, Xiu Juan Zhang, Ka Wai Kam, Zhen Ji Chen, Yuzhou Zhang, Fang Yao Tang, Fen Fen Li, Pancy O S Tam, Wilson W K Yip, Alvin L Young, Clement C Tham, Chi Pui Pang, Jason C Yam, Li Jia Ch |
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 |
Rare genetic variants in SEC24D modify orofacial cleft phenotypes. medRxiv : the preprint server for health sciences 2023 4 . Curtis Sarah W, Carlson Jenna C, Beaty Terri H, Murray Jeffrey C, Weinberg Seth M, Marazita Mary L, Cotney Justin L, Cutler David J, Epstein Michael P, Leslie Elizabeth |
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 |
The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families. Investigative ophthalmology & visual science 2024 8 65 (10): 46. Yi Jiang, Zhen Yi, Yuxi Zheng, Jiamin Ouyang, Dongwei Guo, Shiqiang Li, Xueshan Xiao, Panfeng Wang, Wenmin Sun, Qingjiong Zha |
A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family. International journal of ophthalmology 2024 5 17 (3): 466-472. Zhi-Bo Lin, Chun-Yun Feng, Jin Li, An-Peng Pan, Hai-Sen Sun, A-Yong Yu, Shi-Hao 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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