المؤلفون: Nakayama T; Department of Biology, University of Virginia, Charlottesville, VA 22904, USA., Fisher M; Department of Biology, University of Virginia, Charlottesville, VA 22904, USA., Nakajima K; Division of Embryology and Genetics, Institute for Amphibian Biology, Hiroshima University, Higashihiroshima 739-8526, Japan., Odeleye AO; Department of Biology, University of Virginia, Charlottesville, VA 22904, USA., Zimmerman KB; Department of Biology, University of Virginia, Charlottesville, VA 22904, USA., Fish MB; Department of Biology, University of Virginia, Charlottesville, VA 22904, USA., Yaoita Y; Division of Embryology and Genetics, Institute for Amphibian Biology, Hiroshima University, Higashihiroshima 739-8526, Japan., Chojnowski JL; Department of Cellular Biology, University of Georgia, Athens, GA, 30602, USA., Lauderdale JD; Department of Cellular Biology, University of Georgia, Athens, GA, 30602, USA., Netland PA; Department of Ophthalmology, University of Virginia School of Medicine, Charlottesville, VA 22908, USA., Grainger RM; Department of Biology, University of Virginia, Charlottesville, VA 22904, USA; Department of Ophthalmology, University of Virginia School of Medicine, Charlottesville, VA 22908, USA. Electronic address: rmg9p@virginia.edu.

المصدر: Developmental biology [Dev Biol] 2015 Dec 15; Vol. 408 (2), pp. 328-44. Date of Electronic Publication: 2015 Feb 25.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0372762 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-564X (Electronic) Linking ISSN: 00121606 NLM ISO Abbreviation: Dev Biol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Aniridia/*embryology , Aniridia/*genetics , Eye Proteins/*genetics , Eye Proteins/*physiology , Homeodomain Proteins/*genetics , Homeodomain Proteins/*physiology , Paired Box Transcription Factors/*genetics , Paired Box Transcription Factors/*physiology , Repressor Proteins/*genetics , Repressor Proteins/*physiology , Xenopus/*embryology , Xenopus/*genetics, Animals ; Aniridia/pathology ; Base Sequence ; Codon, Nonsense ; DNA/genetics ; Disease Models, Animal ; Exons ; Eye/embryology ; Eye/growth & development ; Gene Targeting ; Humans ; Molecular Sequence Data ; Mutagenesis ; PAX6 Transcription Factor ; Paired Box Transcription Factors/deficiency ; Phenotype ; Repressor Proteins/deficiency ; Species Specificity

المؤلفون: Zhang X; Department of Ophthalmology, Affiliated Hospital of Luzhou Medical College, Luzhou, China., Qin G; Department of Otolaryngology, Head and Neck Surgery, Affiliated Hospital of Luzhou Medical College, Luzhou, China., Chen G; Institute of Cardiovascular Research, Luzhou Medical College, Luzhou, China., Li T; Institute of Cardiovascular Research, Luzhou Medical College, Luzhou, China., Gao L; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China., Huang L; Institute of Cardiovascular Research, Luzhou Medical College, Luzhou, China., Zhang Y; Functional Laboratory of Medicine, Luzhou Medical College, Luzhou, China., Ouyang K; Department of Ophthalmology, Affiliated Hospital of Luzhou Medical College, Luzhou, China., Wang Y; Department of Ophthalmology, Affiliated Hospital of Luzhou Medical College, Luzhou, China., Pang Y; Department of Ophthalmology, Affiliated Hospital of Luzhou Medical College, Luzhou, China., Zeng B; Institute of Cardiovascular Research, Luzhou Medical College, Luzhou, China., Yu L; Department of Ophthalmology, Affiliated Hospital of Luzhou Medical College, Luzhou, China.

المصدر: Human mutation [Hum Mutat] 2015 Dec; Vol. 36 (12), pp. 1164-7. Date of Electronic Publication: 2015 Oct 09.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Gene Expression* , Genetic Association Studies* , Genetic Variation*, Aniridia/*genetics , Carrier Proteins/*genetics , Eye Proteins/*genetics , Homeodomain Proteins/*genetics , Paired Box Transcription Factors/*genetics , Repressor Proteins/*genetics, 3' Untranslated Regions ; Aniridia/diagnosis ; Carrier Proteins/chemistry ; Computational Biology/methods ; Female ; Genetic Linkage ; High-Throughput Nucleotide Sequencing ; Humans ; Intracellular Signaling Peptides and Proteins ; Male ; Microsatellite Repeats ; Mutation ; PAX6 Transcription Factor ; Pedigree ; Phenotype ; Tripartite Motif Proteins

المؤلفون: Yahalom C; Ophthalmology Department, Hadassah-Hebrew University Medical Center , Jeusalem , Israel and., Sharon D, Dalia E, Simhon SB, Shemesh E, Blumenfeld A

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2015 Jun; Vol. 36 (2), pp. 175-9. Date of Electronic Publication: 2015 Feb 17.

نوع المنشور: Journal Article

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: Genes, Dominant* , Genes, Recessive*, Albinism, Oculocutaneous/*genetics , Aniridia/*genetics , Eye Proteins/*genetics , Homeodomain Proteins/*genetics , Monophenol Monooxygenase/*genetics , Paired Box Transcription Factors/*genetics , Repressor Proteins/*genetics, Adolescent ; Adult ; Albinism, Oculocutaneous/diagnosis ; Aniridia/diagnosis ; Anterior Eye Segment/abnormalities ; Blindness/genetics ; Corneal Opacity/diagnosis ; Corneal Opacity/genetics ; DNA Mutational Analysis ; Eye Abnormalities/diagnosis ; Eye Abnormalities/genetics ; Female ; Genetic Counseling ; Humans ; Male ; Middle Aged ; PAX6 Transcription Factor ; Pedigree ; Polymerase Chain Reaction ; Young Adult

SCR Disease Name: Peters anomaly

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

عنوان ترانسليتريتد: Aniridiesyndrom : Klinische Befunde, problematische Verläufe und Vorschlag zur Betreuungsoptimierung ("Aniridielotse").

المؤلفون: Käsmann-Kellner B; Klinik für Augenheilkunde, Sektion KiOLoN, Kinderophthalmologie, Orthoptik, Low Vision, Neuroophthalmologie, Universitätsklinikum des Saarlandes UKS, Kirrbergerstr. 100, Geb. 22, 66424, Homburg (Saar), Deutschland, kaesmann@gmail.com., Seitz B

المصدر: Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft [Ophthalmologe] 2014 Dec; Vol. 111 (12), pp. 1145-56.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 9206148 Publication Model: Print Cited Medium: Internet ISSN: 1433-0423 (Electronic) Linking ISSN: 0941293X NLM ISO Abbreviation: Ophthalmologe Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia/*diagnosis , Aniridia/*therapy , Blindness/*prevention & control , Eye Proteins/*genetics , Genetic Testing/*methods , Homeodomain Proteins/*genetics , Paired Box Transcription Factors/*genetics , Repressor Proteins/*genetics, Algorithms ; Aniridia/genetics ; Blindness/diagnosis ; Blindness/genetics ; Humans ; Ophthalmologic Surgical Procedures/methods ; Ophthalmoscopy/methods ; PAX6 Transcription Factor ; Symptom Assessment/methods ; Syndrome

عنوان ترانسليتريتد: Kongenitale Aniridie oder PAX6-Syndrom?

المؤلفون: Käsmann-Kellner B; Sektion KiOLoN, Kinderophthalmologie, Orthoptik, Low Vision, Neuroophthalmologie, Klinik für Augenheilkunde, Universitätsklinikum des Saarlandes UKS, Kirrbergerstr. 100, Geb. 22, 66424, Homburg (Saar), Deutschland, kaesmann@gmail.com., Seitz B

المصدر: Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft [Ophthalmologe] 2014 Dec; Vol. 111 (12), pp. 1144.

نوع المنشور: Introductory Journal Article

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 9206148 Publication Model: Print Cited Medium: Internet ISSN: 1433-0423 (Electronic) Linking ISSN: 0941293X NLM ISO Abbreviation: Ophthalmologe Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia/*genetics , Aniridia/*therapy , Eye Proteins/*genetics , Homeodomain Proteins/*genetics , Paired Box Transcription Factors/*genetics , Polymorphism, Single Nucleotide/*genetics , Repressor Proteins/*genetics, Aniridia/diagnosis ; Genetic Predisposition to Disease/genetics ; Humans ; PAX6 Transcription Factor

المؤلفون: Cao X; Ophthalmic Laboratories & Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China., Zhou XM; Ophthalmic Laboratories & Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China., Gan R; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China., Jiang LQ; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China., Lu L; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China., Wang Y; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China., Fan N; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China., Yin Y; Ophthalmic Laboratories & Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China., Yan NH; Ophthalmic Laboratories & Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China., Yu WH; Ophthalmic Laboratories & Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China., Liu XY; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China xliu1213@126.com.

المصدر: Genetics and molecular research : GMR [Genet Mol Res] 2014 Oct 27; Vol. 13 (4), pp. 8679-85. Date of Electronic Publication: 2014 Oct 27.

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

بيانات الدورية: Publisher: FUNPEC Country of Publication: Brazil NLM ID: 101169387 Publication Model: Electronic Cited Medium: Internet ISSN: 1676-5680 (Electronic) Linking ISSN: 16765680 NLM ISO Abbreviation: Genet Mol Res Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Aniridia/*genetics , Eye Proteins/*genetics , Homeodomain Proteins/*genetics , Nystagmus, Congenital/*genetics , Paired Box Transcription Factors/*genetics , Repressor Proteins/*genetics, Adult ; Aniridia/complications ; Aniridia/diagnosis ; Cataract/complications ; Child ; Exons ; Female ; Humans ; Male ; Nystagmus, Congenital/complications ; PAX6 Transcription Factor ; Pedigree ; Twins

المؤلفون: Schanilec P; From the Vanderbilt Eye Institute, Nashville, Tennessee. IRB #121857 'Retrospective Study of Aniridia.' paula.schanilec@gmail.com., Biernacki R; From the Vanderbilt Eye Institute, Nashville, Tennessee. IRB #121857 'Retrospective Study of Aniridia.' paula.schanilec@gmail.com.

المصدر: The American orthoptic journal [Am Orthopt J] 2014; Vol. 64, pp. 98-104.

نوع المنشور: Comparative Study; Journal Article

بيانات الدورية: Publisher: University Of Wisconsin Press For The American Orthopic Council Country of Publication: United States NLM ID: 0370520 Publication Model: Print Cited Medium: Print ISSN: 0065-955X (Print) Linking ISSN: 0065955X NLM ISO Abbreviation: Am Orthopt J Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/diagnosis , Aniridia*/epidemiology , Aniridia*/genetics, Eye Proteins/*genetics , Homeodomain Proteins/*genetics , Paired Box Transcription Factors/*genetics , Repressor Proteins/*genetics, Adolescent ; Adult ; Aged ; Cataract/epidemiology ; Child ; Child, Preschool ; Genetic Predisposition to Disease/epidemiology ; Genetic Predisposition to Disease/genetics ; Humans ; Incidence ; Infant ; Middle Aged ; Nystagmus, Pathologic/epidemiology ; PAX6 Transcription Factor ; Prevalence ; Retrospective Studies ; Young Adult

المؤلفون: Gregory-Evans CY, Wang X, Wasan KM, Zhao J, Metcalfe AL, Gregory-Evans K

المصدر: The Journal of clinical investigation [J Clin Invest] 2014 Jan; Vol. 124 (1), pp. 111-6. Date of Electronic Publication: 2013 Dec 20.

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

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia/*therapy , Eye Proteins/*genetics , Gentamicins/*pharmacology , Homeodomain Proteins/*genetics , Oxadiazoles/*administration & dosage , Paired Box Transcription Factors/*genetics , Repressor Proteins/*genetics, Animals ; Aniridia/genetics ; Aniridia/physiopathology ; Chemistry, Pharmaceutical ; Codon, Nonsense ; Cornea/drug effects ; Cornea/pathology ; Gene Dosage ; Gentamicins/therapeutic use ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; Oxadiazoles/pharmacology ; PAX6 Transcription Factor ; Paired Box Transcription Factors/deficiency ; Repressor Proteins/deficiency ; Retina/drug effects ; Retina/pathology ; Visual Acuity/drug effects

المؤلفون: Bhatia S; MRC Human Genetics Unit at the MRC IGMM at the University of Edinburgh, Edinburgh EH4 2XU, UK., Bengani H, Fish M, Brown A, Divizia MT, de Marco R, Damante G, Grainger R, van Heyningen V, Kleinjan DA

المصدر: American journal of human genetics [Am J Hum Genet] 2013 Dec 05; Vol. 93 (6), pp. 1126-34. Date of Electronic Publication: 2013 Nov 27.

نوع المنشور: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Enhancer Elements, Genetic* , Mutation*, Aniridia/*genetics , Aniridia/*metabolism , Eye Proteins/*genetics , Homeodomain Proteins/*genetics , Homeostasis/*genetics , Paired Box Transcription Factors/*genetics , Repressor Proteins/*genetics, Animals ; Aniridia/diagnosis ; Base Sequence ; Eye/pathology ; Gene Expression Regulation, Developmental ; Gene Order ; Humans ; Mice ; Molecular Sequence Data ; PAX6 Transcription Factor ; Phenotype ; Sequence Alignment ; Zebrafish