المؤلفون: Ewelina Bukowska-Olech, Aleksander Jamsheer, Anna Sowińska-Seidler, Anna Wawrocka, Joanna Walczak-Sztulpa, Bartłomiej Budny, Magdalena Pilas-Pomykalska, Magdalena Socha, Lukasz Kuszel, Maciej R Krawczyński

المصدر: American Journal of Medical Genetics Part A. 188:642-647

مصطلحات موضوعية: Proband, Whole genome sequencing, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, business.industry, Partial aniridia, medicine.disease, Asymptomatic, eye diseases, Hypoplasia, Aniridia, Medicine, sense organs, PAX6, medicine.symptom, business, Genetics (clinical), Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8d1ec07e011c8325551fb24141a3432a
https://doi.org/10.1002/ajmg.a.62559

المؤلفون: Erlend Christoffer Sommer Landsend, Neil Lagali, Tor Paaske Utheim

المصدر: Survey of Ophthalmology. 66:1031-1050

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, genetic structures, Glaucoma, Disease, Nystagmus, Aniridia, Genetics, Complications, Treatment, Dry eye disease, Keratopathy, Cataract, Foveal hypoplasia, Systemic findings, 03 medical and health sciences, 0302 clinical medicine, medicine, business.industry, medicine.disease, eye diseases, Hypoplasia, Congenital Aniridia, Ophthalmology, Oftalmologi, 030221 ophthalmology & optometry, Eye disorder, sense organs, PAX6, medicine.symptom, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f307cdc3555395d04a76155427473899
https://doi.org/10.1016/j.survophthal.2021.02.011

المؤلفون: Alejandra Consejo, Neil Lagali, Sorcha Ní Dhubhghaill, Marie-José Tassignon, Carina Koppen, Joséphine Behaegel

المساهمون: Surgical clinical sciences, Ophtalmology - Eye surgery

المصدر: Cornea
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universitat Politècnica de Catalunya (UPC)

مصطلحات موضوعية: Male, Time Factors, Visual acuity, Visual Acuity, Single Center, Corneal Diseases, 0302 clinical medicine, HLA Antigens, Stem Cells/cytology, Aniridia, Cells, Cultured, 0303 health sciences, Stem Cells, Graft Survival, Epithelium, Corneal, Corneal Diseases/diagnosis, Clinical Science, Middle Aged, Aniridia/complications, 3. Good health, Female, HLA Antigens/immunology, Stem cell, medicine.symptom, Adult, medicine.medical_specialty, Stem Cell Transplantation/methods, Human leukocyte antigen, Limbus Corneae, Transplantation, Autologous, Young Adult, 03 medical and health sciences, Epithelium, Corneal/cytology, medicine, Humans, cultivated limbal epithelial cell transplantation, Limbus Corneae/cytology, Adverse effect, HLA matching, Aged, Retrospective Studies, 030304 developmental biology, business.industry, limbal stem cell deficiency, Perioperative, allo-CLET, medicine.disease, eye diseases, Surgery, Transplantation, Ophthalmology, aniridia-associated keratopathy, 030221 ophthalmology & optometry, Human medicine, business, congenital aniridia, Follow-Up Studies, Stem Cell Transplantation

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcc742454561094838eb2ee686e2ca37
https://doi.org/10.1097/ico.0000000000002729

المؤلفون: M.I. Canut, Miguel A. Teus, Julian Garcia-Feijoo, Francisco J. Muñoz-Negrete, Gema Rebolleda

المصدر: Archivos de la Sociedad Española de Oftalmología (English Edition). 96:52-59

مصطلحات موضوعية: medicine.medical_specialty, Intraocular pressure, genetic structures, Open angle glaucoma, medicine.medical_treatment, Glaucoma, Trabeculectomy, Nystagmus, Trabecular Meshwork, Ophthalmology, medicine, Humans, Aniridia, business.industry, General Medicine, medicine.disease, eye diseases, Hypoplasia, medicine.anatomical_structure, sense organs, Trabecular meshwork, medicine.symptom, business, Glaucoma, Open-Angle

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3907f4753516427af576c3f3e23659ee
https://doi.org/10.1016/j.oftale.2020.11.011

المؤلفون: Rima Dada, Manoj Kumar, Meenakshi Wadhwani

المصدر: Kerala Journal of Ophthalmology, Vol 33, Iss 2, Pp 201-204 (2021)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, aniridia, Glaucoma, Nystagmus, medicine.disease_cause, Ptosis, medicine, Mutation, wilms tumor, business.industry, Wilms' tumor, General Medicine, RE1-994, medicine.disease, eye diseases, Ophthalmology, Aniridia, cataract, PAX6, sense organs, Presentation (obstetrics), medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01e1e766079ae153a1770f3a6d2ee651
http://www.kjophthal.com/article.asp?issn=0976-6677;year=2021;volume=33;issue=2;spage=201;epage=204;aulast=Wadhwani

المؤلفون: Ananda Kalevar, Kashif Baig, Shangjun Jiang, R. Rishi Gupta, Netan Choudhry

المصدر: RETINAL Cases & Brief Reports. 15:615-618

مصطلحات موضوعية: medicine.medical_specialty, genetic structures, medicine.medical_treatment, Vitrectomy, Intraocular lens, Nystagmus, urologic and male genital diseases, 01 natural sciences, 03 medical and health sciences, 0302 clinical medicine, Cataracts, Ophthalmology, medicine, 0101 mathematics, Iris (anatomy), Ectopia lentis, urogenital system, business.industry, 010102 general mathematics, Cosmesis, General Medicine, medicine.disease, eye diseases, medicine.anatomical_structure, Aniridia, 030221 ophthalmology & optometry, sense organs, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b6e32630d4a54efa3032581875ea7f8c
https://doi.org/10.1097/icb.0000000000000863

المؤلفون: Roland P. Kuiper, Marjolijn C.J. Jongmans, Gudrun Schleiermacher, Marry M. van den Heuvel-Eibrink, Hélène Sudour-Bonnange, Catherine Rechnitzer, Antonio Wachtel, Gordan M. Vujanic, Gema L. Ramírez-Villar, Norbert Graf, Beatriz de Camargo, Christophe Bergeron, Niklas Pal, Simona Avcin, Harm van Tinteren, Danka Redzic, Tanzina Chowdhury, Axel Karow, Janna A. Hol, Kathy Pritchard-Jones, Heidi Segers

المساهمون: Clinical sciences, Growth and Development, Pediatrics

المصدر: Cancer

مصطلحات موضوعية: Male, Cancer Research, INTERMEDIATE-RISK, WAGR syndrome (Wilms tumor, Kidney, Gastroenterology, 0302 clinical medicine, Risk Factors, 030212 general & internal medicine, Stage (cooking), Nephroblastomatosis, treatment, Wilms tumor, ASSOCIATION, CHEMOTHERAPY, Progression-Free Survival, and range of developmental delays), Oncology, Liver, 030220 oncology & carcinogenesis, Child, Preschool, surveillance, TRIAL, Original Article, Female, medicine.symptom, Life Sciences & Biomedicine, medicine.medical_specialty, WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and range of developmental delays), Drug-Related Side Effects and Adverse Reactions, aniridia, WAGR syndrome, genitourinary anomalies, PATIENT, Wilms Tumor, RENAL TUMORS, Discipline, 03 medical and health sciences, WAGR Syndrome, INTERNATIONAL-SOCIETY, Internal medicine, medicine, Humans, Pediatrics, Perinatology, and Child Health, Survival rate, Anaplasia, Science & Technology, business.industry, Genitourinary system, DELETION, Antineoplastic Protocols, Infant, Wilms' tumor, Original Articles, medicine.disease, GENE, pediatric, predisposition, Aniridia, Pediatric Oncology, business, Gene Deletion

وصف الملف: Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a2b0340009ac25bdb781367aaaf23ce
http://europepmc.org/articles/PMC7894534

المؤلفون: Susanne Salewsky, Daniel Meller, Juliane Jakob-Girbig

المصدر: Klinische Monatsblätter für Augenheilkunde. 238:803-807

مصطلحات موضوعية: medicine.medical_specialty, Visual acuity, genetic structures, Visual Acuity, Iris, Aphakia, Ophthalmology, medicine, Humans, In patient, Iris (anatomy), Aniridia, Lenses, Intraocular, business.industry, medicine.disease, eye diseases, medicine.anatomical_structure, sense organs, Perforating keratoplasty, medicine.symptom, Corneal scarring, business, Keratoplasty, Penetrating

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1aa9f5628548ea3c6983d89ed23a39cb
https://doi.org/10.1055/a-1475-1049

المؤلفون: Arlene V. Drack, Kai Wang, Megan Helms, Wanda Pfeifer, Tucker Dangremond, Sajag Bhattarai

المصدر: Documenta Ophthalmologica. 143:283-295

مصطلحات موضوعية: medicine.medical_specialty, Visual acuity, genetic structures, Gene mutation, 03 medical and health sciences, 0302 clinical medicine, Foveal, Physiology (medical), Ophthalmology, Medicine, Scotopic vision, medicine.diagnostic_test, business.industry, medicine.disease, eye diseases, Sensory Systems, Aniridia, 030221 ophthalmology & optometry, sense organs, PAX6, medicine.symptom, business, 030217 neurology & neurosurgery, Electroretinography, Photopic vision

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b3e7f41501195e9e8746221e6d27fbe7
https://doi.org/10.1007/s10633-021-09844-w

المؤلفون: Margarita Todorova, C. Valmaggia, V Murali Krishnan, Burkhard Wiechens, Meghana Anika Varde

المصدر: Indian Journal of Ophthalmology, Vol 69, Iss 12, Pp 3526-3531 (2021)

مصطلحات موضوعية: medicine.medical_specialty, Visual acuity, genetic structures, medicine.medical_treatment, Prosthesis Implantation, Visual Acuity, Iris, Intraocular lens, Vitrectomy, Eye Injuries, Lens Implantation, Intraocular, traumatic aniridia, medicine, Humans, Iris (anatomy), Aniridia, Retrospective Studies, Lenses, Intraocular, secondary intraocular lens, business.industry, Retinal detachment, Phacoemulsification, RE1-994, medicine.disease, eye diseases, iris prosthesis, Surgery, artificial iris, Ophthalmology, medicine.anatomical_structure, sense organs, Implant, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93a324e6570af43213de48ee312fb490
https://pubmed.ncbi.nlm.nih.gov/34826989