المؤلفون: Roshandel D; Lions Eye Institute, Perth, WA, Australia; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia., Semnani F; School of Public Health, Tehran University of Medical Sciences (TUMS), Tehran, Iran; School of Medicine, Tehran University of Medical Sciences (TUMS), Tehran, Iran., Rayati Damavandi A; School of Public Health, Tehran University of Medical Sciences (TUMS), Tehran, Iran; School of Medicine, Tehran University of Medical Sciences (TUMS), Tehran, Iran., Masoudi A; Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Baradaran-Rafii A; Department of Ophthalmology, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Department of Ophthalmology, Morsani College of Medicine, University of South Florida, Tampa, FL, USA., Watson SL; The University of Sydney, Save Sight Institute, Discipline of Ophthalmology, Sydney Medical School, Sydney, New South Wales, Australia., Morgan WH; Lions Eye Institute, Perth, WA, Australia; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia., McLenachan S; Lions Eye Institute, Perth, WA, Australia; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia. Electronic address: samuel.mclenachan@lei.org.au.

المصدر: The ocular surface [Ocul Surf] 2023 Jul; Vol. 29, pp. 150-165. Date of Electronic Publication: 2023 May 14.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101156063 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1937-5913 (Electronic) Linking ISSN: 15420124 NLM ISO Abbreviation: Ocul Surf Subsets: MEDLINE

مواضيع طبية MeSH: Corneal Diseases*/genetics , Corneal Diseases*/therapy , Aniridia*/complications, Humans ; Genetic Predisposition to Disease ; Cornea

SCR Disease Name: Ectrodactyly-cleft lip-palate syndrome

المؤلفون: Gupta V; Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India. gupta_v20032000@yahoo.com., Somarajan BI; Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India., Gupta S; Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India., Mahalingam K; Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India., Singh A; Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India., Sharma A; Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.

المصدر: Journal of human genetics [J Hum Genet] 2023 May; Vol. 68 (5), pp. 355-358. Date of Electronic Publication: 2023 Jan 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Glaucoma, Open-Angle*/genetics , Aniridia*/genetics , Glaucoma*/genetics, Humans ; Male ; Child ; Female ; PAX6 Transcription Factor/genetics ; Homeodomain Proteins/genetics ; Mutation ; Pedigree ; Eye Proteins/genetics

عنوان ترانسليتريتد: Congenitalis aniridia – egy spektrumbetegség magyarországi adatai.

المؤلفون: Náray A; 1 Dr. Rolf M. Schwiete Zentrum für Limbusstammzellforschung und kongenitale Aniridie, Universität des Saarlandes Homburg/Saar Deutschland.; 2 Semmelweis Egyetem, Általános Orvostudományi Kar, Szemészeti Klinika Budapest, Mária u. 39., 1085 Magyarország., Csidey M; 3 Heim Pál Országos Gyermekgyógyászati Intézet Budapest Magyarország., Kéki-Kovács K; 2 Semmelweis Egyetem, Általános Orvostudományi Kar, Szemészeti Klinika Budapest, Mária u. 39., 1085 Magyarország., Németh O; 4 Markusovszky Egyetemi Oktatókórház, Szemészeti Osztály Szombathely Magyarország., Knézy K; 2 Semmelweis Egyetem, Általános Orvostudományi Kar, Szemészeti Klinika Budapest, Mária u. 39., 1085 Magyarország., Bausz M; 2 Semmelweis Egyetem, Általános Orvostudományi Kar, Szemészeti Klinika Budapest, Mária u. 39., 1085 Magyarország., Szigeti A; 2 Semmelweis Egyetem, Általános Orvostudományi Kar, Szemészeti Klinika Budapest, Mária u. 39., 1085 Magyarország., Csorba A; 2 Semmelweis Egyetem, Általános Orvostudományi Kar, Szemészeti Klinika Budapest, Mária u. 39., 1085 Magyarország., Kormányos K; 2 Semmelweis Egyetem, Általános Orvostudományi Kar, Szemészeti Klinika Budapest, Mária u. 39., 1085 Magyarország., Szabó D; 2 Semmelweis Egyetem, Általános Orvostudományi Kar, Szemészeti Klinika Budapest, Mária u. 39., 1085 Magyarország., Stachon T; 1 Dr. Rolf M. Schwiete Zentrum für Limbusstammzellforschung und kongenitale Aniridie, Universität des Saarlandes Homburg/Saar Deutschland., Corton M; 5a Departamento de Genética, Hospital Universitario Fundación Jiménez Díaz Madrid España.; 5b Área de Genética & Genómica, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz - Universidad Autónoma de Madrid (IIS-FJD, UAM) Madrid España.; 5c Centro de Investigación en Red de Enfermedades Raras (CIBERER), ISCIII Madrid España., Tory K; 6 MTA-SE Lendület Nephrogenetikai Laboratórium Budapest Magyarország.; 7 Semmelweis Egyetem, Általános Orvostudományi Kar, I. Gyermekgyógyászati Klinika Budapest Magyarország., Nagy ZZ; 2 Semmelweis Egyetem, Általános Orvostudományi Kar, Szemészeti Klinika Budapest, Mária u. 39., 1085 Magyarország., Maka E; 2 Semmelweis Egyetem, Általános Orvostudományi Kar, Szemészeti Klinika Budapest, Mária u. 39., 1085 Magyarország., Szentmáry N; 1 Dr. Rolf M. Schwiete Zentrum für Limbusstammzellforschung und kongenitale Aniridie, Universität des Saarlandes Homburg/Saar Deutschland.; 2 Semmelweis Egyetem, Általános Orvostudományi Kar, Szemészeti Klinika Budapest, Mária u. 39., 1085 Magyarország.

المصدر: Orvosi hetilap [Orv Hetil] 2023 Jan 29; Vol. 164 (4), pp. 148-155. Date of Electronic Publication: 2023 Jan 29 (Print Publication: 2023).

نوع المنشور: English Abstract; Journal Article

بيانات الدورية: Publisher: Akademiai Kiado Country of Publication: Hungary NLM ID: 0376412 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1788-6120 (Electronic) Linking ISSN: 00306002 NLM ISO Abbreviation: Orv Hetil Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/complications , Aniridia*/epidemiology , Aniridia*/genetics , Cataract* , Glaucoma*/complications , Corneal Diseases*, Female ; Humans ; Child ; Adolescent ; Young Adult ; Adult ; Hungary/epidemiology ; Vision Disorders

SCR Disease Name: Cataract, zonular

المؤلفون: Alafaleq M; From the Ophthalmology Department and Centre for Rare Ophthalmological Diseases OPHTARA, Necker Enfants-malades University Hospital, AP-HP, University Paris Cité (M.A., D.B.-G.), Paris, France; Ophthalmology Department, Imam Abdulrahman Bin Faisal University, King Fahd hospital of the university, (M.A.), Dammam, Saudi Arabia. Electronic address: maalafaleq@iau.edu.sa., Sordello L; Faculté de médecine, Université de Paris cité (L.S.), Paris, France and., Bremond-Gignac D; From the Ophthalmology Department and Centre for Rare Ophthalmological Diseases OPHTARA, Necker Enfants-malades University Hospital, AP-HP, University Paris Cité (M.A., D.B.-G.), Paris, France; INSERM, UMRS1138, Team 17, Université Sorbonne Paris Cité, Centre de Recherche des Cordeliers (D.B.-G.), Paris, France. Electronic address: dominique.bremond@aphp.fr.

المصدر: American journal of ophthalmology [Am J Ophthalmol] 2023 Mar; Vol. 247, pp. 145-151. Date of Electronic Publication: 2022 Nov 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Esotropia* , Exotropia* , Aniridia* , Nystagmus, Pathologic* , Cataract*/congenital, Male ; Female ; Humans ; Child ; Infant ; PAX6 Transcription Factor/genetics ; Paired Box Transcription Factors/genetics ; Prospective Studies ; Cohort Studies

عنوان ترانسليتريتد: Reabilitatsiya patsientov s posttravmaticheskoi aniridiei i vtorichnoi glaukomoi.

المؤلفون: Pozdeyeva NA; Cheboksary branch of the S.N. Fedorov National Medical Research Center 'MNTK 'Eye Microsurgery', Cheboksary, Russia.; Postgraduate Doctors' Training Institute, Cheboksary, Russia., Gorbunova NY; Cheboksary branch of the S.N. Fedorov National Medical Research Center 'MNTK 'Eye Microsurgery', Cheboksary, Russia.; Postgraduate Doctors' Training Institute, Cheboksary, Russia., Frolychev IA; Cheboksary branch of the S.N. Fedorov National Medical Research Center 'MNTK 'Eye Microsurgery', Cheboksary, Russia.; Postgraduate Doctors' Training Institute, Cheboksary, Russia., Voskresenskaya AA; Cheboksary branch of the S.N. Fedorov National Medical Research Center 'MNTK 'Eye Microsurgery', Cheboksary, Russia.; Postgraduate Doctors' Training Institute, Cheboksary, Russia., Yakovlev RA; Cheboksary branch of the S.N. Fedorov National Medical Research Center 'MNTK 'Eye Microsurgery', Cheboksary, Russia.

المصدر: Vestnik oftalmologii [Vestn Oftalmol] 2023; Vol. 139 (6), pp. 69-76.

نوع المنشور: English Abstract; Journal Article

بيانات الدورية: Publisher: Media Sfera Country of Publication: Russia (Federation) NLM ID: 0415216 Publication Model: Print Cited Medium: Print ISSN: 0042-465X (Print) Linking ISSN: 0042465X NLM ISO Abbreviation: Vestn Oftalmol Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/complications , Aniridia*/diagnosis , Glaucoma*/diagnosis , Glaucoma*/etiology , Glaucoma*/surgery, Humans ; Lens Implantation, Intraocular/methods ; Visual Acuity ; Iris/surgery ; Intraocular Pressure ; Retrospective Studies ; Treatment Outcome ; Laser Coagulation

المؤلفون: Abdolkarimi D; UCL Institute of Ophthalmology, London, UK., Cunha DL; UCL Institute of Ophthalmology, London, UK; Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, Netherlands., Lahne M; UCL Institute of Ophthalmology, London, UK., Moosajee M; UCL Institute of Ophthalmology; Moorfields Eye Hospital NHS Foundation Trust; Great Ormond Street Hospital for Children NHS Foundation Trust; The Francis Crick Institute, London, UK.

المصدر: Indian journal of ophthalmology [Indian J Ophthalmol] 2022 Dec; Vol. 70 (12), pp. 4119-4129.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Medknow Publications Country of Publication: India NLM ID: 0405376 Publication Model: Print Cited Medium: Internet ISSN: 1998-3689 (Electronic) Linking ISSN: 03014738 NLM ISO Abbreviation: Indian J Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/diagnosis , Aniridia*/genetics , Cataract* , Glaucoma*, Humans ; Animals ; Mice ; Zebrafish ; Iris ; PAX6 Transcription Factor/genetics

المؤلفون: Pedersen HR; National Centre for Optics, Vision and Eye Care, Faculty of Health and Social Sciences, University of South-Eastern Norway, Kongsberg, Norway., Gilson SJ; National Centre for Optics, Vision and Eye Care, Faculty of Health and Social Sciences, University of South-Eastern Norway, Kongsberg, Norway., Landsend ECS; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway., Utheim ØA; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway., Utheim TP; National Centre for Optics, Vision and Eye Care, Faculty of Health and Social Sciences, University of South-Eastern Norway, Kongsberg, Norway.; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway., Baraas RC; National Centre for Optics, Vision and Eye Care, Faculty of Health and Social Sciences, University of South-Eastern Norway, Kongsberg, Norway.

المصدر: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2023 Apr 03; Vol. 64 (4), pp. 18.

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

بيانات الدورية: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

مواضيع طبية MeSH: Corneal Diseases* , Aniridia*/diagnosis, Male ; Humans ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Dark Adaptation ; Retina ; Retinal Cone Photoreceptor Cells ; Photoreceptor Cells, Vertebrate/physiology ; Vision Disorders ; Tomography, Optical Coherence/methods

المؤلفون: Gius I; From the Department of Ophthalmology, University of Padova, Padova, Italy (Gius); Department of Ophthalmology, Pordenone Hospital, Pordenone, Italy (Tozzi, De Biasi); Department of Ophthalmology, 'Ca Foncello' Hospital, Treviso, Italy (Pizzolon); Ophthalmology, Eye Care Clinic, Brescia, Italy (Parolini); Ophthalmology-Surgery Department, Guglielmo da Saliceto Hospital, Piacenza, Italy (Frisina)., Tozzi L, De Biasi CS, Pizzolon T, Parolini B, Frisina R

المصدر: Journal of cataract and refractive surgery [J Cataract Refract Surg] 2023 Apr 01; Vol. 49 (4), pp. 430-437.

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: Wolters Kluwer on behalf of ASCRS and ESCRS Country of Publication: United States NLM ID: 8604171 Publication Model: Print Cited Medium: Internet ISSN: 1873-4502 (Electronic) Linking ISSN: 08863350 NLM ISO Abbreviation: J Cataract Refract Surg Subsets: MEDLINE

مواضيع طبية MeSH: Eye Injuries*/surgery , Aniridia*/surgery , Lenses, Intraocular*, Humans ; Visual Acuity ; Iris/surgery ; Iris/injuries ; Prosthesis Implantation ; Prostheses and Implants

المؤلفون: Tamayo A; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Department of Surgery, Medical and Social Sciences, Faculty of Medicine and Health Sciences, Science and Technology Campus, University of Alcalá, 28871 Alcalá de Henares, Spain., Núñez-Moreno G; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Bioinformatics Unit, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28240 Madrid, Spain., Ruiz C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain., Plaisancie J; Centre de Référence des Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Purpan, CHU Toulouse, 31000 Toulouse, France.; INSERM U1214, Université Toulouse III, 31000 Toulouse, France., Damian A; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Moya J; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain., Chassaing N; Centre de Référence des Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Purpan, CHU Toulouse, 31000 Toulouse, France.; INSERM U1214, Université Toulouse III, 31000 Toulouse, France., Calvas P; Centre de Référence des Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Purpan, CHU Toulouse, 31000 Toulouse, France.; INSERM U1214, Université Toulouse III, 31000 Toulouse, France., Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Minguez P; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Bioinformatics Unit, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28240 Madrid, Spain., Corton M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Jan 13; Vol. 24 (2). Date of Electronic Publication: 2023 Jan 13.

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: Aniridia*/genetics , RNA Splicing*/genetics, Humans ; Alternative Splicing/genetics ; Introns/genetics ; Mutation ; PAX6 Transcription Factor/genetics ; PAX6 Transcription Factor/metabolism ; RNA Splice Sites

عنوان ترانسليتريتد: Autologe Serumaugentropfen bei therapieresistenten Epitheldefekten der Kornea : Einfluss der Grunderkrankung und einer simultanen Amnionmembrantransplantation bei 990 Anwendungen.

المؤلفون: Weischnur L; Klinik für Augenheilkunde, Universitätsklinikum des Saarlandes (UKS), Kirrberger Str. 100, 66424, Homburg/Saar, Deutschland. laura.weischnur@gmail.com., Xanthopoulou K; Klinik für Augenheilkunde, Universitätsklinikum des Saarlandes (UKS), Kirrberger Str. 100, 66424, Homburg/Saar, Deutschland., Munteanu C; Klinik für Augenheilkunde, Universitätsklinikum des Saarlandes (UKS), Kirrberger Str. 100, 66424, Homburg/Saar, Deutschland., Leonhard M; Klinik für Augenheilkunde, Universitätsklinikum des Saarlandes (UKS), Kirrberger Str. 100, 66424, Homburg/Saar, Deutschland., Daas L; Klinik für Augenheilkunde, Universitätsklinikum des Saarlandes (UKS), Kirrberger Str. 100, 66424, Homburg/Saar, Deutschland., Seitz B; Klinik für Augenheilkunde, Universitätsklinikum des Saarlandes (UKS), Kirrberger Str. 100, 66424, Homburg/Saar, Deutschland.

المصدر: Die Ophthalmologie [Ophthalmologie] 2023 Jan; Vol. 120 (1), pp. 43-51. Date of Electronic Publication: 2022 Jun 23.

نوع المنشور: English Abstract; Journal Article

بيانات الدورية: Publisher: Springer Medizin Country of Publication: Germany NLM ID: 9918402288106676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2731-7218 (Electronic) Linking ISSN: 2731720X NLM ISO Abbreviation: Ophthalmologie Subsets: MEDLINE

مواضيع طبية MeSH: Amnion*/transplantation , Aniridia*, Humans ; Ophthalmic Solutions ; Retrospective Studies ; Cornea