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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 17 (of 17 Records)

Query Trace: Disease and PAX6[original query]
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
Clinical significance of hypermethylation status in NSCLC: evaluation of a 30-gene panel in patients with advanced disease.
Anticancer research 2011 Dec 31 (12): 12.
Pesek M, Kopeckova M, Benesova L, Meszarosova A, Mukensnabl P, Bruha F, Minarik M
Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease.
Translational psychiatry 2012 2 e192.
Li Y, Shaw C A, Sheffer I, Sule N, Powell S Z, Dawson B, Zaidi S N Y, Bucasas K L, Lupski J R, Wilhelmsen K C, Doody R, Szigeti
Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.
Orphanet journal of rare diseases 2018 6 13 (1): 94.
Li Jingyan, Leng Yunji, Han Shirui, Yan Lulu, Lu Chaoxia, Luo Yang, Zhang Xue, Cao Lih
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
Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.
Ophthalmic genetics 2018 Feb 1-9.
Vidya Nair Gopinathan, Rajkumar Sankaranarayanan, Vasavada Abhay
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
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
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
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
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
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
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