المؤلفون: Ouyang J; Jinan University, Guangzhou, Guangdong, China.; Aier School of Ophthalmology, Central South University, Changsha, Hunan, China.; Aier Glaucoma Research Institute, Changsha Aier Eye Hospital, Changsha, Hunan, China., Cai Z; Department of Ophthalmology, The Second Xiangya Hospital, Central South University, Changsha, Hunan Province, China., Guo Y; Department of Ophthalmology, The Second Xiangya Hospital, Central South University, Changsha, Hunan Province, China., Nie F; Department of Ophthalmology, The Second Xiangya Hospital, Central South University, Changsha, Hunan Province, China., Cao M; Department of Ophthalmology, The Second Xiangya Hospital, Central South University, Changsha, Hunan Province, China., Duan X; Jinan University, Guangzhou, Guangdong, China. duanxchu@126.com.; Aier School of Ophthalmology, Central South University, Changsha, Hunan, China. duanxchu@126.com.; Aier Glaucoma Research Institute, Changsha Aier Eye Hospital, Changsha, Hunan, China. duanxchu@126.com.

المصدر: BMC ophthalmology [BMC Ophthalmol] 2022 Jan 16; Vol. 22 (1), pp. 28. Date of Electronic Publication: 2022 Jan 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415 (Electronic) Linking ISSN: 14712415 NLM ISO Abbreviation: BMC Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/genetics, China/epidemiology ; Eye Proteins/genetics ; Heterozygote ; Humans ; Male ; Mutation ; PAX6 Transcription Factor/genetics ; Pedigree

المؤلفون: Qian T; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University, No. 100 Haining Rd., Shanghai, 200080, China.; National Clinical Research Center for Eye Diseases, Shanghai, China.; Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China.; Shanghai Engineering Center for Visual Science and Photomedicine, Shanghai, China.; Shanghai Engineering Center for Precise Diagnosis and Treatment of Eye Disease, Shanghai, China.; Department of Neurology, Columbia University Medical Center, 630W 168th St, New York, NY, 10032, USA.; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore., Chen C; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University, No. 100 Haining Rd., Shanghai, 200080, China.; National Clinical Research Center for Eye Diseases, Shanghai, China.; Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China.; Shanghai Engineering Center for Visual Science and Photomedicine, Shanghai, China.; Shanghai Engineering Center for Precise Diagnosis and Treatment of Eye Disease, Shanghai, China., Li C; Genesky Biotechnologies Inc, Shanghai, China., Gong Q; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University, No. 100 Haining Rd., Shanghai, 200080, China.; National Clinical Research Center for Eye Diseases, Shanghai, China.; Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China.; Shanghai Engineering Center for Visual Science and Photomedicine, Shanghai, China.; Shanghai Engineering Center for Precise Diagnosis and Treatment of Eye Disease, Shanghai, China., Liu K; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University, No. 100 Haining Rd., Shanghai, 200080, China.; National Clinical Research Center for Eye Diseases, Shanghai, China.; Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China.; Shanghai Engineering Center for Visual Science and Photomedicine, Shanghai, China.; Shanghai Engineering Center for Precise Diagnosis and Treatment of Eye Disease, Shanghai, China., Wang G; Department of Neurology, Columbia University Medical Center, 630W 168th St, New York, NY, 10032, USA., Schrauwen I; Department of Neurology, Columbia University Medical Center, 630W 168th St, New York, NY, 10032, USA. is2632@cumc.columbia.edu., Xu X; Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University, No. 100 Haining Rd., Shanghai, 200080, China. drxuxun@sjtu.edu.cn.; National Clinical Research Center for Eye Diseases, Shanghai, China. drxuxun@sjtu.edu.cn.; Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China. drxuxun@sjtu.edu.cn.; Shanghai Engineering Center for Visual Science and Photomedicine, Shanghai, China. drxuxun@sjtu.edu.cn.; Shanghai Engineering Center for Precise Diagnosis and Treatment of Eye Disease, Shanghai, China. drxuxun@sjtu.edu.cn.

المصدر: BMC ophthalmology [BMC Ophthalmol] 2021 Oct 05; Vol. 21 (1), pp. 353. Date of Electronic Publication: 2021 Oct 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415 (Electronic) Linking ISSN: 14712415 NLM ISO Abbreviation: BMC Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/complications , Aniridia*/genetics , Cataract*/complications , Cataract*/genetics , Eye Proteins*/genetics , PAX6 Transcription Factor*/genetics, China ; Humans ; Pedigree

المؤلفون: Jin X; Department of Ophthalmology, Chinese PLA General Hospital, 100853, Beijing, China., Liu W; Department of Ophthalmology, Hainan Hospital of Chinese PLA General Hospital, 572000, Sanya, Hainan Province, China., Qv LH; Department of Ophthalmology, the 74th Army Group Hospital, 510318, Guangzhou, China., X WQ; Department of Ophthalmology, Chinese PLA General Hospital, 100853, Beijing, China., Huang HB; Department of Ophthalmology, Chinese PLA General Hospital, 100853, Beijing, China. 536273642@qq.com.; Department of Ophthalmology, Hainan Hospital of Chinese PLA General Hospital, 572000, Sanya, Hainan Province, China. 536273642@qq.com.; The Second School of Clinical Medicine, Southern Medical University, Guangzhou, 510515, China. 536273642@qq.com.

المصدر: BMC ophthalmology [BMC Ophthalmol] 2021 May 20; Vol. 21 (1), pp. 225. Date of Electronic Publication: 2021 May 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415 (Electronic) Linking ISSN: 14712415 NLM ISO Abbreviation: BMC Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/genetics, China ; Eye Proteins/genetics ; Heterozygote ; Humans ; Mutation ; PAX6 Transcription Factor/genetics ; Pedigree

المؤلفون: Lin Y; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China., Gao H; Department of Toxicology, School of Public Health and Tropical Medicine, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China., Zhu Y; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China., Chen C; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China., Li T; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China., Liu B; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China., Lyu C; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China., Huang Y; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China., Li H; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China., Wu Q; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China., Jin C; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China., Liang X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China., Huang X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China., Lu L; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China.

المصدر: Molecular medicine reports [Mol Med Rep] 2018 Nov; Vol. 18 (5), pp. 4439-4445. Date of Electronic Publication: 2018 Sep 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: D. A. Spandidos Country of Publication: Greece NLM ID: 101475259 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1791-3004 (Electronic) Linking ISSN: 17912997 NLM ISO Abbreviation: Mol Med Rep Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia/*genetics , Cataract/*genetics , Glaucoma/*genetics , PAX6 Transcription Factor/*genetics, Adolescent ; Adult ; Aniridia/diagnostic imaging ; Aniridia/pathology ; Cataract/diagnostic imaging ; Cataract/pathology ; Child ; Child, Preschool ; China ; Exons/genetics ; Female ; Frameshift Mutation/genetics ; Genetic Predisposition to Disease ; Glaucoma/pathology ; Heterozygote ; Humans ; Intraocular Pressure ; Male ; Microscopy, Acoustic ; Middle Aged ; Pedigree ; Tomography, Optical Coherence ; Visual Acuity/genetics ; Visual Acuity/physiology ; Young Adult

المؤلفون: Liu X; a Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China.; b Center of Information in Biomedicine , University of Electronic Science and Technology of China , Chengdu , China.; c School of Materials Science and Engineering , Southwest Jiaotong University , Chengdu , Sichuan , China., Wu Y; a Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China.; b Center of Information in Biomedicine , University of Electronic Science and Technology of China , Chengdu , China., Miao Z; d Department of Ophthalmology, Key Laboratory of Vision Loss and Restoration, Ministry of Education , Peking University People's Hospital , Beijing , China.; e Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases , Beijing , China.; f College of Optometry , Peking University Health Science Center , Beijing , China.; g Center of Optometry , Peking University People's Hospital , Beijing , China., Zhang H; a Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China.; b Center of Information in Biomedicine , University of Electronic Science and Technology of China , Chengdu , China., Gong B; a Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China.; b Center of Information in Biomedicine , University of Electronic Science and Technology of China , Chengdu , China., Zhu X; a Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China.; b Center of Information in Biomedicine , University of Electronic Science and Technology of China , Chengdu , China.; h Institute of Chengdu Biology , Chinese Academy of Sciences , Chengdu , China.; i Sichuan Translational Medicine Hospital , Chinese Academy of Sciences , Chengdu , China., Huang L; a Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China.; b Center of Information in Biomedicine , University of Electronic Science and Technology of China , Chengdu , China.; h Institute of Chengdu Biology , Chinese Academy of Sciences , Chengdu , China.; i Sichuan Translational Medicine Hospital , Chinese Academy of Sciences , Chengdu , China., Shi Y; a Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China.; b Center of Information in Biomedicine , University of Electronic Science and Technology of China , Chengdu , China.; h Institute of Chengdu Biology , Chinese Academy of Sciences , Chengdu , China.; i Sichuan Translational Medicine Hospital , Chinese Academy of Sciences , Chengdu , China., Hao F; a Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China., Ma S; a Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China., Lin H; a Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China., Wang L; d Department of Ophthalmology, Key Laboratory of Vision Loss and Restoration, Ministry of Education , Peking University People's Hospital , Beijing , China.; e Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases , Beijing , China.; f College of Optometry , Peking University Health Science Center , Beijing , China.; g Center of Optometry , Peking University People's Hospital , Beijing , China., Yang Z; a Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China.; b Center of Information in Biomedicine , University of Electronic Science and Technology of China , Chengdu , China.; h Institute of Chengdu Biology , Chinese Academy of Sciences , Chengdu , China.; i Sichuan Translational Medicine Hospital , Chinese Academy of Sciences , Chengdu , China.

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2018 Aug; Vol. 39 (4), pp. 428-436. Date of Electronic Publication: 2018 Jun 14.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

مواضيع طبية MeSH: Sequence Deletion*, Aniridia/*genetics , Asian People/*genetics , PAX6 Transcription Factor/*genetics, Adult ; Aniridia/diagnosis ; China/epidemiology ; DNA Mutational Analysis ; Exons/genetics ; Female ; Genetic Linkage ; Humans ; Male ; Pedigree

المؤلفون: Chen DD; Beijing Tongren Eye Center, Beijing Keynote Laboratory of Ophthalmology and Visual Science, Beijing Tongren Hospital, Capital Medical University, Beijing, China., Yang T; Department of Traditional Chinese Medicine, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.; Beijing Integrative Medicine on Encephalopathy Research Institution, Beijing, China., Zhu SQ; Beijing Tongren Eye Center, Beijing Keynote Laboratory of Ophthalmology and Visual Science, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

المصدر: European journal of ophthalmology [Eur J Ophthalmol] 2020 Jan; Vol. 30 (1), pp. 181-188. Date of Electronic Publication: 2018 Nov 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: SAGE Publishing Country of Publication: United States NLM ID: 9110772 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1724-6016 (Electronic) Linking ISSN: 11206721 NLM ISO Abbreviation: Eur J Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation*, Aniridia/*genetics , Asian People/*genetics , Cataract/*genetics , Intellectual Disability/*genetics , PAX6 Transcription Factor/*genetics, Adult ; Child ; Child, Preschool ; China/epidemiology ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Pedigree ; Polymorphism, Single Nucleotide ; Recurrence ; Tomography, Optical Coherence ; Exome Sequencing

المؤلفون: Zhuang J; 1] Xiamen Eye Center of Xiamen University, Xiamen, Fujian, China [2] Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, China [3]., Chen X; 1] Biomedical Engineering Center, Fujian Medical University, Fuzhou, Fujian, China [2]., Tan Z; Biomedical Engineering Center, Fujian Medical University, Fuzhou, Fujian, China., Zhu Y; Department of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China., Zhao K; Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, China., Yang J; Biomedical Engineering Center, Fujian Medical University, Fuzhou, Fujian, China.

المصدر: Scientific reports [Sci Rep] 2014 May 02; Vol. 4, pp. 4836. Date of Electronic Publication: 2014 May 02.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Gene Duplication* , Mutation*, Aniridia/*genetics , Eye Abnormalities/*genetics , Eye Proteins/*genetics , Homeodomain Proteins/*genetics , Paired Box Transcription Factors/*genetics , Repressor Proteins/*genetics, Adolescent ; Adult ; Aniridia/diagnosis ; Asian People ; China ; DNA Mutational Analysis ; Eye Abnormalities/diagnosis ; Family ; Haplotypes ; Humans ; Male ; PAX6 Transcription Factor ; Pedigree ; Phenotype

المؤلفون: Xiao Y; 1 Department of Ophthalmology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China., Liu X; 2 The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.; 3 Institute of Chengdu Biology, Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China., Yang C; 2 The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China., Liu L; 1 Department of Ophthalmology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China., Guo X; 2 The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China., Wang Q; 1 Department of Ophthalmology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China., Gong B; 2 The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.; 3 Institute of Chengdu Biology, Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.

المصدر: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2019 Jul; Vol. 23 (7), pp. 495-500. Date of Electronic Publication: 2019 Jun 04.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1945-0257 (Electronic) Linking ISSN: 19450257 NLM ISO Abbreviation: Genet Test Mol Biomarkers Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Aniridia/*genetics , PAX6 Transcription Factor/*genetics, Adult ; Child ; China ; DNA Mutational Analysis ; Family Health ; Female ; Heterozygote ; Humans ; Male ; Middle Aged ; Pedigree

المؤلفون: Qiu JJ; Department of Ophthalmology, the Second Affiliated Hospital of Nanchang University, No.1 Minde Road, Donghu District, Nanchang, 330006, China., Zhang Q; Department of Ophthalmology, the Second Affiliated Hospital of Nanchang University, No.1 Minde Road, Donghu District, Nanchang, 330006, China. zhangqian9963@163.com., Geng ZX; Department of Ophthalmology of Shanghai Tenth People's Hospital, and Tongji Eye Institute, Tongji University School of Medicine, Shanghai, 200092, China.; Department of Medical Genetics Tongji University School of Medicine, Shanghai, 200092, China., Liu M; Department of Ophthalmology of Shanghai Tenth People's Hospital, and Tongji Eye Institute, Tongji University School of Medicine, Shanghai, 200092, China.; Department of Medical Genetics Tongji University School of Medicine, Shanghai, 200092, China., Zhong ZL; Department of Ophthalmology of Shanghai Tenth People's Hospital, and Tongji Eye Institute, Tongji University School of Medicine, Shanghai, 200092, China.; Department of Medical Genetics Tongji University School of Medicine, Shanghai, 200092, China., Chen JJ; Department of Ophthalmology of Shanghai Tenth People's Hospital, and Tongji Eye Institute, Tongji University School of Medicine, Shanghai, 200092, China.; Department of Medical Genetics Tongji University School of Medicine, Shanghai, 200092, China., Liu F; Department of Ophthalmology, the Second Affiliated Hospital of Nanchang University, No.1 Minde Road, Donghu District, Nanchang, 330006, China. LF61@sina.com.

المصدر: BMC ophthalmology [BMC Ophthalmol] 2019 Jan 08; Vol. 19 (1), pp. 10. Date of Electronic Publication: 2019 Jan 08.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415 (Electronic) Linking ISSN: 14712415 NLM ISO Abbreviation: BMC Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Sequence Deletion*, Aniridia/*genetics , Asian People/*genetics , Eye Proteins/*genetics , Genetic Predisposition to Disease/*genetics , PAX6 Transcription Factor/*genetics, Adult ; Child, Preschool ; China ; Female ; Humans ; Male ; Middle Aged

المؤلفون: Zhang X; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing, China., Zhang Q, Tong Y, Dai H, Zhao X, Bai F, Xu L, Li Y

المصدر: Molecular vision [Mol Vis] 2011 Feb 19; Vol. 17, pp. 548-57. Date of Electronic Publication: 2011 Feb 19.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: Electronic Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*, Aniridia/*genetics , Asian People/*genetics , Sequence Deletion/*genetics, Adolescent ; Adult ; Aged ; Aniridia/pathology ; Child ; Child, Preschool ; China ; Chromosomes, Human, Pair 11/genetics ; DNA Mutational Analysis ; Doublecortin Domain Proteins ; Eye Proteins/genetics ; Family ; Female ; Genotype ; Haplotypes/genetics ; Homeodomain Proteins/genetics ; Humans ; Male ; Microsatellite Repeats/genetics ; Middle Aged ; PAX6 Transcription Factor ; Paired Box Transcription Factors/genetics ; Pedigree ; Repressor Proteins/genetics ; Reverse Transcriptase Polymerase Chain Reaction