المؤلفون: Dentel A; From the Ophthalmology Department (A.D., M.F., M.P.R., D.B-G., A.D.), Necker-Enfants Malades University Hospital, Paris. Electronic address: dentel_alexandre@orange.fr., Ferrari M; From the Ophthalmology Department (A.D., M.F., M.P.R., D.B-G., A.D.), Necker-Enfants Malades University Hospital, Paris., Robert MP; From the Ophthalmology Department (A.D., M.F., M.P.R., D.B-G., A.D.), Necker-Enfants Malades University Hospital, Paris; Borelli Centre (M.P.R.), UMR 9010, CNRS-SSA-ENS Paris Saclay-Paris Cité University, Paris., Valleix S; INSERM (S.V., D.B-G., A.D.), UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris; Genomic Medicine Department of Systemic and Organ Diseases (S.V.), Cochin Hospital, Paris City University, Paris, France., Bremond-Gignac D; From the Ophthalmology Department (A.D., M.F., M.P.R., D.B-G., A.D.), Necker-Enfants Malades University Hospital, Paris; INSERM (S.V., D.B-G., A.D.), UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris., Daruich A; From the Ophthalmology Department (A.D., M.F., M.P.R., D.B-G., A.D.), Necker-Enfants Malades University Hospital, Paris; INSERM (S.V., D.B-G., A.D.), UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris.

المصدر: American journal of ophthalmology [Am J Ophthalmol] 2023 Sep; Vol. 253, pp. 44-48. Date of Electronic Publication: 2023 Apr 13.

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: Macula Lutea*/blood supply , Aniridia*/diagnosis, Humans ; Tomography, Optical Coherence/methods ; Fluorescein Angiography/methods ; Cross-Sectional Studies ; Retinal Vessels/diagnostic imaging ; Vision Disorders

المؤلفون: Mirjalili Mohanna SZ; Centre for Molecular Medicine and Therapeutics at British Columbia Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada., Korecki AJ; Centre for Molecular Medicine and Therapeutics at British Columbia Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Simpson EM; Centre for Molecular Medicine and Therapeutics at British Columbia Children's Hospital, The University of British Columbia, Vancouver, BC, Canada. simpson@cmmt.ubc.ca.; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada. simpson@cmmt.ubc.ca.

المصدر: Gene therapy [Gene Ther] 2023 Sep; Vol. 30 (9), pp. 670-684. Date of Electronic Publication: 2023 Apr 19.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9421525 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5462 (Electronic) Linking ISSN: 09697128 NLM ISO Abbreviation: Gene Ther Subsets: MEDLINE

مواضيع طبية MeSH: Herpesvirus 1, Cercopithecine*/genetics , Aniridia*/genetics, Mice ; Animals ; Limbal Stem Cells ; Cornea ; Genetic Therapy ; Genetic Vectors/genetics ; Dependovirus/genetics ; Transduction, Genetic

المؤلفون: Kuchalska K; School of Doctors, Poznan University of Medical Sciences, Poznan, Poland., Wawrocka A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Krawczynski MR; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Center of Medical Genetics 'Genesis', Poznan, Poland.

المصدر: Congenital anomalies [Congenit Anom (Kyoto)] 2023 Jul; Vol. 63 (4), pp. 109-115. Date of Electronic Publication: 2023 May 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley on behalf of the Japanese Teratology Society Country of Publication: Australia NLM ID: 9306292 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1741-4520 (Electronic) Linking ISSN: 09143505 NLM ISO Abbreviation: Congenit Anom (Kyoto) Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/diagnosis , Aniridia*/genetics , Aniridia*/pathology , Eye Abnormalities*/genetics, Humans ; PAX6 Transcription Factor/genetics ; Paired Box Transcription Factors/genetics ; Mouth Mucosa/pathology ; Mutation ; Homeodomain Proteins/genetics ; Pedigree

المؤلفون: Grainger RM; Aniridia North America, LaGrange, IL, 60525, USA; Department of Biology, 326 Gilmer Hall University of Virginia 485 McCormick Road P.O. Box 400328 Charlottesville, VA 22904, USA. Electronic address: rmg9p@virginia.edu., Lauderdale JD; Aniridia North America, LaGrange, IL, 60525, USA; Department of Cellular Biology, University of Georgia, Athens, GA, 30602, USA. Electronic address: jdlauder@uga.edu., Collins JL; Aniridia North America, LaGrange, IL, 60525, USA., Trout KL; Aniridia North America, LaGrange, IL, 60525, USA., McCullen Krantz S; Aniridia North America, LaGrange, IL, 60525, USA., Wolfe SS; Aniridia North America, LaGrange, IL, 60525, USA., Netland PA; Aniridia North America, LaGrange, IL, 60525, USA; Department of Ophthalmology, University of Virginia School of Medicine, Charlottesville, VA, 22908, USA.

المصدر: The ocular surface [Ocul Surf] 2023 Jul; Vol. 29, pp. 423-431. Date of Electronic Publication: 2023 May 27.

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

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: Aniridia*/complications, Humans ; PAX6 Transcription Factor ; North America

المؤلفون: Daruich A; Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France., Duncan M; Department of Biological Sciences, University of Delaware, Newark, DE, USA., Robert MP; Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France; Borelli Centre, UMR 9010, CNRS-SSA-ENS Paris Saclay-Paris Cité University, Paris, France., Lagali N; Division of Ophthalmology, Department of Biomedical and Clinical Sciences, Faculty of Medicine, Linköping University, 581 83, Linköping, Sweden; Department of Ophthalmology, Sørlandet Hospital Arendal, Arendal, Norway., Semina EV; Department of Pediatrics, Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI, 53226, USA., Aberdam D; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France., Ferrari S; Fondazione Banca degli Occhi del Veneto, Via Paccagnella 11, Venice, Italy., Romano V; Department of Medical and Surgical Specialties, Radiolological Sciences, and Public Health, Ophthalmology Clinic, University of Brescia, Italy., des Roziers CB; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France; Service de Médecine Génomique des Maladies de Système et d'Organe, APHP. Centre Université de Paris, Fédération de Génétique et de Médecine Génomique Hôpital Cochin, 27 rue du Fbg St-Jacques, 75679, Paris Cedex 14, France., Benkortebi R; Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France., De Vergnes N; Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France., Polak M; Pediatric Endocrinology, Gynecology and Diabetology, Hôpital Universitaire Necker Enfants Malades, AP-HP, Paris Cité University, INSERM U1016, Institut IMAGINE, France., Chiambaretta F; Department of Ophthalmology, CHU Gabriel Monpied, Clermont-Ferrand, France., Nischal KK; Division of Pediatric Ophthalmology, Strabismus, and Adult Motility, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA; UPMC Eye Center, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Behar-Cohen F; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France., Valleix S; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France; Service de Médecine Génomique des Maladies de Système et d'Organe, APHP. Centre Université de Paris, Fédération de Génétique et de Médecine Génomique Hôpital Cochin, 27 rue du Fbg St-Jacques, 75679, Paris Cedex 14, France., Bremond-Gignac D; Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France. Electronic address: dominique.bremond@aphp.fr.

المصدر: Progress in retinal and eye research [Prog Retin Eye Res] 2023 Jul; Vol. 95, pp. 101133. Date of Electronic Publication: 2022 Oct 22.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Pergamon Country of Publication: England NLM ID: 9431859 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-1635 (Electronic) Linking ISSN: 13509462 NLM ISO Abbreviation: Prog Retin Eye Res Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/genetics , Aniridia*/therapy , Aniridia*/diagnosis , Eye Abnormalities*, Humans ; PAX6 Transcription Factor/genetics ; Mutation ; Phenotype ; Eye Proteins/genetics

SCR Disease Name: Anterior segment mesenchymal dysgenesis

المؤلفون: Villarrubia A; Department of Anterior Segment, Cornea and Refractive Surgery, Hospital La Arruzafa, Cordoba, Spain., Sánchez Ventosa Á; Department of Anterior Segment, Cornea and Refractive Surgery, Hospital La Arruzafa, Cordoba, Spain., Cubero Parra JM; Vitreoretinal and Diabetic Eye Care Department, Hospital La Arruzafa, Cordoba, Spain., Spínola Moreno C; Vitreoretinal and Diabetic Eye Care Department, Hospital La Arruzafa, Cordoba, Spain., Laborda Oñate JM; Vitreoretinal and Diabetic Eye Care Department, Hospital La Arruzafa, Cordoba, Spain., Palacín Miranda E; Department of Anterior Segment, Cornea and Refractive Surgery, Hospital La Arruzafa, Cordoba, Spain., González-Cruces T; Department of Anterior Segment, Cornea and Refractive Surgery, Hospital La Arruzafa, Cordoba, Spain. timoteogc@gmail.com., Morales López P; David Bitran Ophthalmology Institute. Ophthalmology Department, Pontificia Universidad Católica de Chile, Santiago, Chile., Cano-Ortiz A; Department of Anterior Segment, Cornea and Refractive Surgery, Hospital La Arruzafa, Cordoba, Spain.

المصدر: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2023 May; Vol. 261 (5), pp. 1331-1338. Date of Electronic Publication: 2022 Dec 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 8205248 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-702X (Electronic) Linking ISSN: 0721832X NLM ISO Abbreviation: Graefes Arch Clin Exp Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/complications , Aniridia*/diagnosis , Aniridia*/surgery , Lenses, Intraocular* , Corneal Opacity*/surgery, Humans ; Lens Implantation, Intraocular/methods ; Keratoplasty, Penetrating/methods ; Prospective Studies ; Iris/surgery ; Retrospective Studies

المؤلفون: Bhasin P; Director, Ratan Jyoti Netralaya, Gwalior, Madhya Pradesh, India., Panday M; Director-Glaucoma Department, Ratan Jyoti Netralaya, Gwalior, Madhya Pradesh, India., Dhanapal P; Director-Cornea Department, Ratan Jyoti Netralaya, Gwalior, Madhya Pradesh, India.

المصدر: Indian journal of ophthalmology [Indian J Ophthalmol] 2023 May; Vol. 71 (5), pp. 2263-2266.

نوع المنشور: Case Reports; Journal Article

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: Lenses, Intraocular*/adverse effects , Aniridia*/complications , Aniridia*/diagnosis , Aniridia*/surgery , Eye Injuries*/complications , Eye Injuries*/diagnosis , Eye Injuries*/surgery , Aphakia*/complications , Aphakia*/diagnosis , Corneal Diseases*/surgery , Glaucoma*/diagnosis , Glaucoma*/etiology , Glaucoma*/surgery, Male ; Humans ; Adult ; Lens Implantation, Intraocular/adverse effects ; Iris/surgery ; Retrospective Studies

المؤلفون: Damián A; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040, Madrid, Spain.; Centre for Biomedical Network Research On Rare Diseases (CIBERER), 28029, Madrid, 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.; Centre for Biomedical Network Research On Rare Diseases (CIBERER), 28029, Madrid, Spain.; Bioinformatics Unit, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040, Madrid, Spain., Jubin C; Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, 91057, Evry, France., 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.; Centre for Biomedical Network Research On Rare Diseases (CIBERER), 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., de Alba MR; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040, Madrid, Spain.; Centre for Biomedical Network Research On Rare Diseases (CIBERER), 28029, Madrid, Spain., Villaverde C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040, Madrid, Spain.; Centre for Biomedical Network Research On Rare Diseases (CIBERER), 28029, Madrid, Spain., Fund C; Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, 91057, Evry, France., Delépine M; Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, 91057, Evry, France., Leduc A; Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, 91057, Evry, France., Deleuze JF; Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, 91057, Evry, France., Mínguez P; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040, Madrid, Spain.; Centre for Biomedical Network Research On Rare Diseases (CIBERER), 28029, Madrid, Spain.; Bioinformatics Unit, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040, Madrid, Spain., 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.; Centre for Biomedical Network Research On Rare Diseases (CIBERER), 28029, 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. mcorton@fjd.es.; Centre for Biomedical Network Research On Rare Diseases (CIBERER), 28029, Madrid, Spain. mcorton@fjd.es.

المصدر: Human genomics [Hum Genomics] 2023 Jun 02; Vol. 17 (1), pp. 45. Date of Electronic Publication: 2023 Jun 02.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Paired Box Transcription Factors*/genetics , Aniridia*/genetics, Humans ; Homeodomain Proteins/genetics ; Repressor Proteins/genetics ; Chromosome Inversion ; Mutation

المؤلفون: Viberg A; Department of Clinical Sciences, Ophthalmology, Umeå University, Umeå, Sweden., Vicente A; Department of Clinical Sciences, Ophthalmology, Umeå University, Umeå, Sweden., Samolov B; Division of Eye and Vision, Department of Clinical Neuroscience, St Eriks Eye Hospital, Karolinska Institutet, Stockholm, Sweden., Hjortdal J; Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark., Byström B; Department of Clinical Sciences, Ophthalmology, Umeå University, Umeå, Sweden.

المصدر: Acta ophthalmologica [Acta Ophthalmol] 2023 Mar; Vol. 101 (2), pp. 222-228. Date of Electronic Publication: 2022 Aug 09.

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: Corneal Diseases*/complications , Corneal Diseases*/diagnosis , Corneal Diseases*/surgery , Corneal Transplantation* , Aniridia*/complications , Aniridia*/surgery, Humans ; Cornea/surgery ; Follow-Up Studies ; Retrospective Studies ; Prostheses and Implants ; Keratoplasty, Penetrating ; Vision Disorders/surgery

عنوان ترانسليتريتد: Implantation eines Aniridierings bei Cataracta complicata und Irisdefekten.

المؤلفون: Scharf D; Universitätsaugenklinik Heidelberg, Im Neuenheimer Feld 400, 69120, Heidelberg, Deutschland. debora.scharf@med.uni-heidelberg.de., Chychko L; Universitätsaugenklinik Heidelberg, Im Neuenheimer Feld 400, 69120, Heidelberg, Deutschland., Augustin VA; Universitätsaugenklinik Heidelberg, Im Neuenheimer Feld 400, 69120, Heidelberg, Deutschland., Khoramnia R; Universitätsaugenklinik Heidelberg, Im Neuenheimer Feld 400, 69120, Heidelberg, Deutschland., Auffarth GU; Universitätsaugenklinik Heidelberg, Im Neuenheimer Feld 400, 69120, Heidelberg, Deutschland.

المصدر: Die Ophthalmologie [Ophthalmologie] 2023 Jul; Vol. 120 (7), pp. 755-758. Date of Electronic Publication: 2022 Jun 29.

نوع المنشور: 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: Aniridia*/complications , Cataract*/complications, Humans ; Iris