المؤلفون: Nguyen HH; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Pham CM; Vietnam National Eye Hospital, Hanoi, Vietnam., Nguyen HTT; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Vu NP; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Duong TT; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Nguyen TD; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Nguyen BD; Vietnam Military Medical University, Hanoi, Vietnam., Nguyen HV; Vietnam National Eye Hospital, Hanoi, Vietnam., Nong HV; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Hanoi, Vietnam.

المصدر: Molecular vision [Mol Vis] 2021 Sep 02; Vol. 27, pp. 555-563. Date of Electronic Publication: 2021 Sep 02 (Print Publication: 2021).

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: eCollection Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/genetics , Homeodomain Proteins*/genetics, Asian People/genetics ; Eye Proteins/genetics ; Forkhead Transcription Factors/genetics ; Humans ; Iris ; Mutation ; Nerve Tissue Proteins ; PAX6 Transcription Factor/genetics ; Pedigree

المؤلفون: Souzeau E; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA, Australia., Rudkin AK; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA, Australia.; South Australian Institute of Ophthalmology, University of Adelaide, Adelaide, SA, Australia., Dubowsky A; SA Pathology, Flinders Medical Centre, Adelaide, SA, Australia., Casson RJ; South Australian Institute of Ophthalmology, University of Adelaide, Adelaide, SA, Australia.; Sight For All, Royal Adelaide Hospital, Adelaide, SA, Australia., Muecke JS; South Australian Institute of Ophthalmology, University of Adelaide, Adelaide, SA, Australia.; Sight For All, Royal Adelaide Hospital, Adelaide, SA, Australia., Mancel E; Centre Hospitalier Territorial de Nouvelle-Caledonie, Noumea, New Caledonia., Whiting M; Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, Melbourne, VIC, Australia., Mills RAD; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA, Australia., Burdon KP; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA, Australia.; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia., Craig JE; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA, Australia.

المصدر: Molecular vision [Mol Vis] 2018 Mar 28; Vol. 24, pp. 261-273. Date of Electronic Publication: 2018 Mar 28 (Print Publication: 2018).

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: eCollection Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion* , Genetic Association Studies* , Mosaicism*, Aniridia/*genetics , PAX6 Transcription Factor/*genetics, Adolescent ; Adult ; Aniridia/diagnosis ; Aniridia/pathology ; Asia, Southeastern ; Australasia ; Base Sequence ; Child ; Cohort Studies ; Exons ; Female ; Gene Expression ; Genotype ; Humans ; Inheritance Patterns ; Introns ; Male ; Middle Aged ; PAX6 Transcription Factor/deficiency ; Pedigree ; Phenotype

المؤلفون: Dubey SK; Department of Genetics, Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Madurai, India., Mahalaxmi N; Department of Genetics, Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Madurai, India., Vijayalakshmi P; Department of Pediatric Ophthalmology and Strabismus, Aravind Eye Hospital, Madurai, India., Sundaresan P; Department of Genetics, Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Madurai, India.

المصدر: Molecular vision [Mol Vis] 2015 Jan 27; Vol. 21, pp. 88-97. Date of Electronic Publication: 2015 Jan 27 (Print Publication: 2015).

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: eCollection Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Aniridia/*genetics , Cataract/*genetics , Eye Diseases, Hereditary/*genetics , Eye Proteins/*genetics , Fovea Centralis/*abnormalities , Glaucoma/*genetics , Homeodomain Proteins/*genetics , Nystagmus, Congenital/*genetics , Nystagmus, Pathologic/*genetics , Paired Box Transcription Factors/*genetics , Repressor Proteins/*genetics , Retinal Diseases/*congenital, Adolescent ; Adult ; Aged ; Amino Acid Sequence ; Aniridia/complications ; Aniridia/pathology ; Base Sequence ; Case-Control Studies ; Cataract/complications ; Cataract/pathology ; Child ; Child, Preschool ; DNA Mutational Analysis ; Eye Diseases, Hereditary/complications ; Eye Diseases, Hereditary/pathology ; Female ; Fovea Centralis/pathology ; Genetic Association Studies ; Genetic Heterogeneity ; Glaucoma/complications ; Glaucoma/pathology ; Haploinsufficiency ; Humans ; India ; Infant ; Introns ; Iris/metabolism ; Iris/pathology ; Male ; Middle Aged ; Molecular Sequence Data ; Nystagmus, Congenital/complications ; Nystagmus, Congenital/pathology ; Nystagmus, Pathologic/complications ; Nystagmus, Pathologic/pathology ; Open Reading Frames ; PAX6 Transcription Factor ; Retinal Diseases/complications ; Retinal Diseases/genetics ; Retinal Diseases/pathology

SCR Disease Name: Foveal Hypoplasia, Isolated; Iris hypoplasia and glaucoma

المؤلفون: You B; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China., Zhang X; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China., Xu K; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China., Xie Y; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China., Ye H; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China., Li Y; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China.

المصدر: Molecular vision [Mol Vis] 2020 Mar 26; Vol. 26, pp. 226-234. Date of Electronic Publication: 2020 Mar 26 (Print Publication: 2020).

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: eCollection Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia/*genetics , Aniridia/*physiopathology , Iris/*abnormalities , PAX6 Transcription Factor/*genetics, Adolescent ; Adult ; Aged ; Asian People ; Cell Line ; Child ; Child, Preschool ; Codon, Nonsense ; Cohort Studies ; DNA Copy Number Variations ; Female ; Frameshift Mutation ; Genetic Association Studies ; Humans ; INDEL Mutation ; Infant ; Iris/metabolism ; Iris/pathology ; Male ; Middle Aged ; Mutation, Missense ; RNA Splicing/genetics ; Sequence Analysis, DNA ; Silent Mutation

المؤلفون: Jin C; Eye Center of the 2nd Affiliated Hospital, Medical College of Zhejiang University, Hangzhou, China., Wang Q, Li J, Zhu Y, Shentu X, Yao K

المصدر: Molecular vision [Mol Vis] 2012; Vol. 18, pp. 465-70. Date of Electronic Publication: 2012 Feb 16.

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: Print-Electronic Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Aniridia/*genetics , Asian People/*genetics , Cataract/*genetics , Eye Proteins/*genetics , Homeodomain Proteins/*genetics , Paired Box Transcription Factors/*genetics , Repressor Proteins/*genetics, Adult ; Aniridia/complications ; Base Sequence ; Cataract/complications ; Cataract/congenital ; Child ; Disease Progression ; Exons ; Female ; Genotype ; Heterozygote ; Humans ; Introns ; Male ; Middle Aged ; Molecular Sequence Data ; PAX6 Transcription Factor ; Pedigree ; Phenotype ; Sequence Analysis, DNA ; Severity of Illness Index

المؤلفون: Lin Y; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China., Liu X, Yu S, Luo L, Liang X, Wang Z, Chen C, Zhu Y, Ye S, Yan H, Liu Y

المصدر: Molecular vision [Mol Vis] 2012; Vol. 18, pp. 2190-4. Date of Electronic Publication: 2012 Aug 07.

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

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

مواضيع طبية MeSH: Frameshift Mutation*, Aniridia/*genetics , Asian People/*genetics , Eye Proteins/*genetics , Homeodomain Proteins/*genetics , Nystagmus, Congenital/*genetics , Paired Box Transcription Factors/*genetics , Repressor Proteins/*genetics, Adult ; Aniridia/complications ; Base Sequence ; Child ; Exons ; Female ; Genotype ; Heterozygote ; Humans ; Male ; Molecular Sequence Data ; Nystagmus, Congenital/complications ; PAX6 Transcription Factor ; Pedigree ; Phenotype

المؤلفون: Khan AO; Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Aldahmesh MA, Alkuraya FS

المصدر: Molecular vision [Mol Vis] 2011 Mar 11; Vol. 17, pp. 708-14. Date of Electronic Publication: 2011 Mar 11.

نوع المنشور: Case Reports; 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: Aniridia/*genetics , Genome, Human/*genetics, Adolescent ; Adult ; Aniridia/complications ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Mydriasis/complications ; Mydriasis/genetics ; Saudi Arabia ; Young Adult

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

المؤلفون: Cheng F; Department of Ophthalmology, the 2nd Affiliated Hospital of Harbin Medical University, Harbin, China., Song W, Kang Y, Yu S, Yuan H

المصدر: Molecular vision [Mol Vis] 2011 Feb 10; Vol. 17, pp. 448-55. Date of Electronic Publication: 2011 Feb 10.

نوع المنشور: Case Reports; 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: Gene Deletion*, Aniridia/*genetics , Eye Abnormalities/*genetics , Eye Proteins/*genetics , Homeodomain Proteins/*genetics , Paired Box Transcription Factors/*genetics , Repressor Proteins/*genetics, Aniridia/ethnology ; China ; Chromosomes, Human, Pair 11/genetics ; Doublecortin Domain Proteins ; Exons ; Eye Abnormalities/ethnology ; Family Health ; Female ; Humans ; Male ; Mutation ; PAX6 Transcription Factor ; Pedigree ; Phenotype ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA

المؤلفون: Yan N; Ophthalmic Laboratories & Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, PR China., Zhao Y, Wang Y, Xie A, Huang H, Yu W, Liu X, Cai SP

المصدر: Molecular vision [Mol Vis] 2011; Vol. 17, pp. 2612-7. Date of Electronic Publication: 2011 Oct 05.

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: Print-Electronic Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: Computational Biology* , Molecular Biology*, Aniridia/*genetics , Asian People/*genetics , Cataract/*genetics , Eye Proteins/*genetics , Homeodomain Proteins/*genetics , Nystagmus, Congenital/*genetics , Paired Box Transcription Factors/*genetics , Repressor Proteins/*genetics, Adult ; Aged, 80 and over ; Amino Acid Sequence ; Aniridia/complications ; Case-Control Studies ; Cataract/complications ; Child ; DNA Mutational Analysis ; Exons ; Female ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation, Missense ; Nystagmus, Congenital/complications ; PAX6 Transcription Factor ; Pedigree ; Severity of Illness Index