المؤلفون: Wawrocka A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Walczak-Sztulpa J; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Socha M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Kuszel L; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Sowinska-Seidler A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Budny B; Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland., Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Pilas-Pomykalska M; Department of Ophthalmology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Centers for Medical Genetics GENESIS, Poznan, Poland., Krawczynski MR; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Centers for Medical Genetics GENESIS, Poznan, Poland.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Feb; Vol. 188 (2), pp. 642-647. Date of Electronic Publication: 2021 Nov 12.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/diagnosis , Aniridia*/genetics , Eye Proteins*/genetics, Comparative Genomic Hybridization ; Homeodomain Proteins/genetics ; Homozygote ; Humans ; Male ; PAX6 Transcription Factor/genetics ; Pedigree ; Sequence Deletion

المؤلفون: Crawford AZ; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.; Department of Ophthalmology, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand., Freundlich SEN; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.; Department of Ophthalmology, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand., Lim J; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.; Department of Ophthalmology, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand., McGhee CNJ; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.; Department of Ophthalmology, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand.; Eye Institute, Auckland, New Zealand.

المصدر: Clinical & experimental ophthalmology [Clin Exp Ophthalmol] 2022 Jul; Vol. 50 (5), pp. 490-499. Date of Electronic Publication: 2022 Apr 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Pub. Asia Country of Publication: Australia NLM ID: 100896531 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1442-9071 (Electronic) Linking ISSN: 14426404 NLM ISO Abbreviation: Clin Exp Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/surgery , Lenses, Intraocular*/adverse effects, Humans ; Iris/surgery ; Lens Implantation, Intraocular/methods ; Postoperative Complications/surgery ; Prosthesis Implantation ; Retrospective Studies ; Visual Acuity

المؤلفون: Tarilonte M; Department of Genetics & 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), ISCIII, Madrid, Spain., Ramos P; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain., Moya J; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain., Fernandez-Sanz G; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, Madrid, Spain.; Department of Ophthalmology, Clínica Universidad de Navarra, Madrid, Spain., Blanco-Kelly F; Department of Genetics & 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), ISCIII, Madrid, Spain., Swafiri ST; Department of Genetics & 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), ISCIII, Madrid, Spain., Villaverde C; Department of Genetics & 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), ISCIII, Madrid, Spain., Romero R; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain., Tamayo A; Department of Genetics & 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), ISCIII, Madrid, Spain., Gener B; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Department of Genetics, Cruces University Hospital, BioCruces Health Research Institute, Barakaldo, Spain., Calvas P; Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, Toulouse, France.; INSERM U1056, Université Toulouse III, Toulouse, France., Ayuso C; Department of Genetics & 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), ISCIII, Madrid, Spain., Corton M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain mcorton@fjd.es.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.

المصدر: Journal of medical genetics [J Med Genet] 2022 May; Vol. 59 (5), pp. 428-437. Date of Electronic Publication: 2021 Mar 29.

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

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-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, Eye Proteins/genetics ; Homeodomain Proteins/genetics ; Humans ; Mutation/genetics ; PAX6 Transcription Factor/genetics ; Pedigree ; RNA Splice Sites/genetics

عنوان ترانسليتريتد: Traumatische Aniridie: Konservativer oder chirurgischer Therapieansatz?

المؤلفون: Mayer CS; Augenklinik, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 400, 69120, Heidelberg, Deutschland. Christian.Mayer@med.uni-heidelberg.de., Baur ID; Augenklinik, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 400, 69120, Heidelberg, Deutschland., Storr J; Klinik und Poliklinik für Augenheilkunde, Klinikum rechts der Isar, München, Deutschland., Khoramnia R; Augenklinik, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 400, 69120, Heidelberg, Deutschland.

المصدر: Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft [Ophthalmologe] 2022 Apr; Vol. 119 (4), pp. 395-399. Date of Electronic Publication: 2021 Mar 29.

نوع المنشور: Journal Article

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

مواضيع طبية MeSH: Aniridia*/diagnosis , Aniridia*/surgery , Eye Injuries*/complications , Eye Injuries*/diagnosis , Eye Injuries*/surgery , Lenses, Intraocular*, Humans ; Iris/surgery

المؤلفون: Hendricks TM; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa., Troyer JM; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa., Boese EA; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa.

المصدر: Ophthalmology. Glaucoma [Ophthalmol Glaucoma] 2022 Mar-Apr; Vol. 5 (2), pp. 194.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101730510 Publication Model: Print Cited Medium: Internet ISSN: 2589-4196 (Electronic) Linking ISSN: 25894196 NLM ISO Abbreviation: Ophthalmol Glaucoma Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/diagnosis , Aniridia*/surgery , Glaucoma Drainage Implants*, Humans

المؤلفون: Katiyar P; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany. Electronic address: priya21katiyar@gmail.com., Stachon T; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany., Fries FN; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany., Parow F; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany., Ulrich M; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany., Langenbucher A; Experimental Ophthalmology, Saarland University, Homburg, Saar, Germany., Cayless A; School of Physical Sciences, The Open University, Milton Keynes, United Kingdom., Seitz B; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany., Käsmann-Kellner B; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany., Latta L; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany., Szentmáry N; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany.

المصدر: Experimental eye research [Exp Eye Res] 2022 Feb; Vol. 215, pp. 108904. Date of Electronic Publication: 2021 Dec 23.

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

بيانات الدورية: Publisher: Academic Press Country of Publication: England NLM ID: 0370707 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0007 (Electronic) Linking ISSN: 00144835 NLM ISO Abbreviation: Exp Eye Res Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/genetics , Desmoglein 1*/biosynthesis , Desmoglein 1*/genetics , Fatty Acid-Binding Proteins*/biosynthesis , Fatty Acid-Binding Proteins*/genetics , Fatty Acid-Binding Proteins*/metabolism , PAX6 Transcription Factor*/genetics , PAX6 Transcription Factor*/metabolism, Antigens, Differentiation ; Epithelial Cells/metabolism ; Humans ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; RNA, Small Interfering/genetics ; RNA, Small Interfering/metabolism ; Tretinoin/metabolism

المؤلفون: Shen T; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China., Qiu X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China., Lin X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China., Lin J; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China., Li X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China., Chen Q; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China., Pan L; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China., Wang Z; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China., Shen H; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China., Zhang Q; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China., Yan J; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2022 Feb; Vol. 43 (1), pp. 88-96. Date of Electronic Publication: 2021 Aug 03.

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

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: Abnormalities, Multiple* , Aniridia*/diagnosis , Aniridia*/genetics , PAX6 Transcription Factor*/genetics , Strabismus*/diagnosis , Strabismus*/genetics, Eye Proteins/genetics ; Homeodomain Proteins/genetics ; Humans ; Mutation, Missense ; Pedigree ; Phenotype

المؤلفون: Casas-Llera P; Unidad de Glaucoma, Vissum Mirasierra, Madrid, Spain; Unidad de Glaucoma, Fernández Casas Oftalmólogos, Torrelavega, Cantabria, Spain. Electronic address: casasdellerapilar@gmail.com., Ruiz-Casas D; Departamento de Oftalmología, Hospital Ramón y Cajal, Madrid, Spain., Alió JL; Unidad de Córnea, Cataratas y Cirugía Refractiva de Vissum (Grupo Miranza), Alicante, Spain; Departamento de Oftalmología, Patología y Cirugía, Universidad Miguel Hernández, Alicante, Spain.

المصدر: Archivos de la Sociedad Espanola de Oftalmologia [Arch Soc Esp Oftalmol (Engl Ed)] 2021 Nov; Vol. 96 Suppl 1, pp. 60-67. Date of Electronic Publication: 2021 Jun 04.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier España Country of Publication: Spain NLM ID: 101715860 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2173-5794 (Electronic) Linking ISSN: 21735794 NLM ISO Abbreviation: Arch Soc Esp Oftalmol (Engl Ed) Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/diagnosis, Child ; Fovea Centralis ; Humans ; Iris ; PAX6 Transcription Factor/genetics ; Tomography, Optical Coherence

المؤلفون: Landsend ECS; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway. Electronic address: elandsend@gmail.com., Lagali N; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden., Utheim TP; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.

المصدر: Survey of ophthalmology [Surv Ophthalmol] 2021 Nov-Dec; Vol. 66 (6), pp. 1031-1050. Date of Electronic Publication: 2021 Mar 04.

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

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0404551 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-3304 (Electronic) Linking ISSN: 00396257 NLM ISO Abbreviation: Surv Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/genetics , Aniridia*/therapy , Cataract*/complications , Corneal Diseases* , Glaucoma*/complications, Humans ; Iris

المؤلفون: Roman S; Service 3, Quinze-Vingts National Ophthalmology Hospital, INSERM-DGOS CIC 1423, IHU Foresight, 28, Rue de Charenton, 75012 Paris, France. Electronic address: romanje@wanadoo.fr., Baudouin C; Service 3, Quinze-Vingts National Ophthalmology Hospital, INSERM-DGOS CIC 1423, IHU Foresight, 28, Rue de Charenton, 75012 Paris, France; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; Department of Ophthalmology, Ambroise Paré Hospital, AP-HP, Université de Versailles Saint-Quentin en Yvelines, Boulogne-Billancourt, France.

المصدر: Journal francais d'ophtalmologie [J Fr Ophtalmol] 2021 Nov; Vol. 44 (9), pp. 1387-1395. Date of Electronic Publication: 2021 Jul 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Masson Country of Publication: France NLM ID: 7804128 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1773-0597 (Electronic) Linking ISSN: 01815512 NLM ISO Abbreviation: J Fr Ophtalmol Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/complications , Aniridia*/surgery , Lenses, Intraocular*/adverse effects, Humans ; Iris/surgery ; Middle Aged ; Retrospective Studies ; Silicones ; Visual Acuity