المؤلفون: Csorba A; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Kormányos K; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Csidey M; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Heim Pál National Pediatric Institute, Budapest, Hungary., Náray A; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Universität des Saarlandes - Campus Homburg, Homburg/Saar, Germany., Kovács K; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Németh O; Department of Ophthalmology, Markusovszky University Teaching Hospital, Szombathely, Hungary., Knézy K; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Bausz M; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Szigeti A; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Szabó D; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Corton M; Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Tory K; MTA-SE Lendület Nephrogenetic Laboratory, Hungarian Academy of Sciences, Budapest, Hungary.; 1st Department of Pediatrics, Semmelweis University, Budapest, Hungary., Nagy ZZ; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Langenbucher A; Experimental Ophthalmology, Saarland University, Homburg/Saar, Germany., Maka E; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Szentmáry N; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Universität des Saarlandes - Campus Homburg, Homburg/Saar, Germany.

المصدر: Current eye research [Curr Eye Res] 2024 Jun; Vol. 49 (6), pp. 582-590. Date of Electronic Publication: 2024 Mar 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8104312 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2202 (Electronic) Linking ISSN: 02713683 NLM ISO Abbreviation: Curr Eye Res Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/diagnosis , Microscopy, Confocal* , Corneal Stroma*/pathology , Corneal Stroma*/innervation , Nerve Fibers*/pathology, Humans ; Female ; Male ; Adult ; Young Adult ; Adolescent ; Middle Aged ; Ophthalmic Nerve/pathology ; Child

المؤلفون: Cronemberger S; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Albuquerque ALB; Department of Surgery, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Silva ACSE; Department of Pediatrics, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Zanini JLSS; Department of Anatomy and Imaging, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., da Silva AHG; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Barbosa LF; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., da Cunha Rubião F; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., de Lima FL; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Casimiro RF; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Martins MP; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Diniz-Filho A; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Bastos-Rodrigues L; Department of Nutrition, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Friedman E; The Preventive Personalized Medicine Center, Assuta Medical Center and the Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel., De Marco L; Department of Surgery, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

المصدر: Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2024 Jun; Vol. 113 (6), pp. 1420-1425. Date of Electronic Publication: 2024 Feb 16.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: Norway NLM ID: 9205968 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1651-2227 (Electronic) Linking ISSN: 08035253 NLM ISO Abbreviation: Acta Paediatr Subsets: MEDLINE

مواضيع طبية MeSH: Twins, Monozygotic*/genetics , WAGR Syndrome*/genetics , Aniridia*/genetics , Aniridia*/complications , Wilms Tumor*/genetics , Wilms Tumor*/complications , Corneal Opacity*/genetics, Humans ; Female ; Infant ; Anterior Eye Segment/abnormalities ; Anterior Eye Segment/diagnostic imaging ; Eye Abnormalities/genetics ; Eye Abnormalities/diagnostic imaging ; Eye Abnormalities/complications ; Diseases in Twins/genetics ; Kidney Neoplasms/genetics ; Kidney Neoplasms/diagnostic imaging ; Kidney Neoplasms/complications

SCR Disease Name: Peters anomaly

المؤلفون: Stachon T; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Homburg/Saar, Germany., Fecher-Trost C; Department of Experimental and Clinical Toxicology, Institute of Experimental and Clinical Pharmacology and Toxicology, Center for Molecular Signaling (PZMS), Saarland University, Homburg, Germany., Latta L; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Homburg/Saar, Germany., Yapar D; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Homburg/Saar, Germany., Fries FN; Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany., Meyer MR; Department of Experimental and Clinical Toxicology, Institute of Experimental and Clinical Pharmacology and Toxicology, Center for Molecular Signaling (PZMS), Saarland University, Homburg, Germany., Käsmann-Kellner B; Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany., Seitz B; Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany., Szentmáry N; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Homburg/Saar, Germany.

المصدر: Acta ophthalmologica [Acta Ophthalmol] 2024 Jun; Vol. 102 (4), pp. e635-e645. Date of Electronic Publication: 2023 Dec 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1755-3768 (Electronic) Linking ISSN: 1755375X NLM ISO Abbreviation: Acta Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/genetics , Aniridia*/metabolism , Aniridia*/diagnosis , Conjunctiva*/metabolism , Conjunctiva*/pathology, Humans ; Female ; Adult ; Male ; Adolescent ; Young Adult ; Middle Aged ; Proteomics/methods ; Mass Spectrometry ; Eye Proteins/metabolism ; Eye Proteins/genetics ; Cytology

المؤلفون: Stachon T; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Homburg, Saarland, Germany; and., Latta L; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Homburg, Saarland, Germany; and., Fries FN; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saarland, Germany., Seitz B; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saarland, Germany., Szentmáry N; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Homburg, Saarland, Germany; and.

المصدر: Cornea [Cornea] 2024 May 01; Vol. 43 (5), pp. 627-634. Date of Electronic Publication: 2023 Dec 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8216186 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-4798 (Electronic) Linking ISSN: 02773740 NLM ISO Abbreviation: Cornea Subsets: MEDLINE

مواضيع طبية MeSH: Corneal Diseases*/complications , Aniridia*/genetics , Aniridia*/complications , Corneal Neovascularization*/complications, Humans ; RNA, Messenger/genetics ; Secondary Data Analysis ; Cytology ; Inflammation/genetics ; Vision Disorders ; Cytokines/genetics

المؤلفون: Bourkiza R; Department of Vitreoretinal Surgery, Moorfields Eye Hospital, 162 City Road, London, EC1V 2PD, UK., Vakros G; Department of Vitreoretinal Surgery, Moorfields Eye Hospital, 162 City Road, London, EC1V 2PD, UK. g.vakros@nhs.net., Tarafdar S; Department of Ophthalmology, Ninewells hospital, James Arrott drive, Dundee, DD2 1SG, UK., Yang E; Department of Vitreoretinal Surgery, Moorfields Eye Hospital, 162 City Road, London, EC1V 2PD, UK., Charteris DG; Department of Vitreoretinal Surgery, Moorfields Eye Hospital, 162 City Road, London, EC1V 2PD, UK.; NIHR Biomedical Research Centre at Moorfields Eye Hospital and University College London Institute of Ophthalmology, London, EC1V 2PD, UK.

المصدر: Eye (London, England) [Eye (Lond)] 2024 Jun; Vol. 38 (9), pp. 1642-1646. Date of Electronic Publication: 2024 Feb 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8703986 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5454 (Electronic) Linking ISSN: 0950222X NLM ISO Abbreviation: Eye (Lond) Subsets: MEDLINE

مواضيع طبية MeSH: Visual Acuity*/physiology , Lens Implantation, Intraocular*/methods , Sclera*/surgery , Aniridia*/surgery , Lenses, Intraocular* , Suture Techniques*, Humans ; Middle Aged ; Female ; Retrospective Studies ; Male ; Aged ; Adult ; Adolescent ; Young Adult ; Postoperative Complications ; Follow-Up Studies ; Child ; Eye Injuries/surgery ; Aged, 80 and over ; Treatment Outcome ; Intraoperative Complications ; Prosthesis Design

المؤلفون: Wu T; Department of Ophthalmology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, China.; Beijing Key Laboratory of Restoration of Damaged Ocular nerve, Peking University Third Hospital, Beijing, China., Cui C; Department of Ophthalmology, Handan Central Hospital, Handan, Hebei, China., Li Y; Department of Ophthalmology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, China.; Beijing Key Laboratory of Restoration of Damaged Ocular nerve, Peking University Third Hospital, Beijing, China., Hong Y; Department of Ophthalmology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, China. drhongying@bjmu.edu.cn.; Beijing Key Laboratory of Restoration of Damaged Ocular nerve, Peking University Third Hospital, Beijing, China. drhongying@bjmu.edu.cn., Zhang C; Department of Ophthalmology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, China. zhangc1@yahoo.com.; Beijing Key Laboratory of Restoration of Damaged Ocular nerve, Peking University Third Hospital, Beijing, China. zhangc1@yahoo.com.

المصدر: BMC ophthalmology [BMC Ophthalmol] 2024 Apr 09; Vol. 24 (1), pp. 157. Date of Electronic Publication: 2024 Apr 09.

نوع المنشور: Review; 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: Aniridia* , Glaucoma*/diagnosis , Glaucoma*/surgery , Trabeculectomy*/methods, Humans ; Male ; Young Adult ; Follow-Up Studies ; Gonioscopy ; Intraocular Pressure ; PAX6 Transcription Factor ; Retrospective Studies ; Treatment Outcome

عنوان ترانسليتريتد: Eine Querschnittsanalyse von 556 Augen aus dem Homburger Aniridiezentrum.

المؤلفون: Fries FN; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Saarland University, Homburg/Saar, Germany.; Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany., Náray A; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Saarland University, Homburg/Saar, Germany.; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Munteanu C; Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany., Stachon T; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Saarland University, Homburg/Saar, Germany., Lagali N; Department of Biomedical and Clinical Sciences, Faculty of Medicine, Linköping University, Linköping, Sweden., Seitz B; Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany., Szentmáry N; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Saarland University, Homburg/Saar, Germany., Käsmann-Kellner B; Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany.

المصدر: Klinische Monatsblatter fur Augenheilkunde [Klin Monbl Augenheilkd] 2024 Mar; Vol. 241 (3), pp. 275-282. Date of Electronic Publication: 2023 Aug 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Thieme Country of Publication: Germany NLM ID: 0014133 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-3999 (Electronic) Linking ISSN: 00232165 NLM ISO Abbreviation: Klin Monbl Augenheilkd Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/diagnosis , Aniridia*/epidemiology , Cataract*/complications , Corneal Diseases* , Glaucoma*/complications, Male ; Humans ; Aged, 80 and over ; Female ; Cross-Sectional Studies ; Retrospective Studies ; Vision Disorders/diagnosis ; Vision Disorders/epidemiology ; Vision Disorders/etiology

المؤلفون: Goh J; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital.; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School., Wei H; Research Laboratory, KK Women's and Children's Hospital., Lai AHM; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital.; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School., Chang B; Opthalmology Service, KK Women's and Children's Hospital., Khan S; Opthalmology Service, KK Women's and Children's Hospital., Syn Y; Singapore National Eye Centre, Singapore., Jamuar SS; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital.; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School., Tan EC; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School.; Research Laboratory, KK Women's and Children's Hospital.

المصدر: Clinical dysmorphology [Clin Dysmorphol] 2024 Apr 01; Vol. 33 (2), pp. 63-68. Date of Electronic Publication: 2024 Feb 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/genetics , Cataract*/genetics, Humans ; Face ; Exons ; Asia, Southeastern ; PAX6 Transcription Factor/genetics

المؤلفون: Hall HN; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK nikki.hall@ed.ac.uk., Parry D; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Illumina United Kingdom, Edinburgh, UK., Halachev M; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Williamson KA; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Donnelly K; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Campos Parada J; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Bhatia S; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Joseph J; MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, UK., Holden S; East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK., Prescott TE; Department of Medical Genetics, Telemark Hospital, Skien, Norway., Bitoun P; Consultations de Génétique médicale, Service de Pédiatrie, CHU Paris-Nord, Hôpital Jean Verdier, Bondy, France., Kirk EP; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia., Newbury-Ecob R; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Lachlan K; University Hospital Southampton, NHS Foundation Trust Wessex Clinical Genetics Service, Southampton, UK., Bernar J; Department of Genetics, Hospital Ruber Internacional, Madrid, Spain., van Heyningen V; MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, UK.; Institute of Ophthalmology, University College London, London, UK., FitzPatrick DR; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Meynert A; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.

المصدر: Journal of medical genetics [J Med Genet] 2024 Feb 21; Vol. 61 (3), pp. 250-261. Date of Electronic Publication: 2024 Feb 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/genetics , Eye Abnormalities*/genetics, Humans ; PAX6 Transcription Factor/genetics ; Mutation/genetics ; Exons ; Homeodomain Proteins/genetics ; Eye Proteins/genetics ; Pedigree

المؤلفون: Marakhonov AV; Research Centre for Medical Genetics, Moscow 115522, Russia., Vasilyeva TA; Research Centre for Medical Genetics, Moscow 115522, Russia., Minzhenkova ME; Research Centre for Medical Genetics, Moscow 115522, Russia., Sukhanova NV; Research Centre for Medical Genetics, Moscow 115522, Russia., Sparber PA; Research Centre for Medical Genetics, Moscow 115522, Russia., Andreeva NA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow 117997, Russia., Teleshova MV; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow 117997, Russia., Baybagisova FK; Medical Center 'Evromed', Cherkessk 369000, Russia., Shilova NV; Research Centre for Medical Genetics, Moscow 115522, Russia., Kutsev SI; Research Centre for Medical Genetics, Moscow 115522, Russia., Zinchenko RA; Research Centre for Medical Genetics, Moscow 115522, Russia.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Nov 29; Vol. 24 (23). Date of Electronic Publication: 2023 Nov 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: WAGR Syndrome*/diagnosis , WAGR Syndrome*/genetics , WAGR Syndrome*/pathology , Aniridia*/diagnosis , Aniridia*/genetics , Wilms Tumor*/genetics , Kidney Neoplasms*/genetics, Male ; Humans ; Infant ; Chromosome Deletion ; Chromosomes, Human, Pair 11/genetics ; Chromosome Inversion