المؤلفون: Carl C Claes, Jonas J Van den Heurck

المصدر: RETINAL Cases & Brief Reports. 16:597-600

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, genetic structures, medicine.medical_treatment, Vitrectomy, Ophthalmology, medicine, Humans, Aniridia, Intraocular foreign body, Corneal Perforation, business.industry, General Medicine, Lens Subluxation, Corneal perforation, Contact Lenses, Hydrophilic, medicine.disease, eye diseases, Posterior segment of eyeball, Contact lens, medicine.anatomical_structure, Eye Foreign Bodies, Lens (anatomy), sense organs, Ultrasonography, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58c1a76368796b27255648570c253238
https://doi.org/10.1097/icb.0000000000001028

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: Jorge L. Alió, P. Casas-Llera, D. Ruiz-Casas

المصدر: Archivos de la Sociedad Española de Oftalmología (English Edition). 96:60-67

مصطلحات موضوعية: 0301 basic medicine, Fovea Centralis, medicine.medical_specialty, PAX6 Transcription Factor, genetic structures, Iris, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Foveal, Ophthalmology, medicine, Humans, Iris (anatomy), Child, Macular involvement, Aniridia, Retina, business.industry, Retinal, General Medicine, medicine.disease, eye diseases, Hypoplasia, Congenital Aniridia, 030104 developmental biology, medicine.anatomical_structure, chemistry, 030221 ophthalmology & optometry, sense organs, PAX6, business, Tomography, Optical Coherence

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503e247ea8b03f7b14f5751147be6ea2
https://doi.org/10.1016/j.oftale.2020.11.006

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: Johanna Zerbib, Daniel Aberdam, Edward Pichinuk, Elie Frank, Léa Zennaro, Keren Oved, Orly Dorot, Lauriane N. Roux, Dominique Bremond-Gignac

المصدر: Biochemical and Biophysical Research Communications. 582:100-104

مصطلحات موضوعية: MAPK/ERK pathway, PAX6 Transcription Factor, Biophysics, Ritanserin, Haploinsufficiency, Limbus Corneae, Models, Biological, Biochemistry, Cell Line, Cell Movement, medicine, Humans, Receptor, Serotonin, 5-HT2A, Aniridia, Molecular Biology, Cell Proliferation, Mitogen-Activated Protein Kinase 1, Mitogen-Activated Protein Kinase 3, business.industry, Stem Cells, Drug Repositioning, Epithelium, Corneal, Cell migration, Cell Biology, medicine.disease, eye diseases, Hedgehog signaling pathway, HEK293 Cells, Gene Expression Regulation, Eye development, Cancer research, Serotonin Antagonists, sense organs, PAX6, Ophthalmic Solutions, business, Signal Transduction, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b1238d9cea94e57a0c2d98fb696fc82
https://doi.org/10.1016/j.bbrc.2021.10.036

المؤلفون: Tushar Bandgar, Vijaya Sarathi, Hemangini Thakkar, Nalini S. Shah, Sneha Arya, Anurag R. Lila, Rohit Barnabas, Sandeep Kumar, Saba Samad Memon, Virendra Patil

المصدر: Endocrine Connections, Vol 10, Iss 12, Pp 1522-1530 (2021)
Endocrine Connections

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Tumor suppressor gene, Endocrinology, Diabetes and Metabolism, Gonadoblastoma, xy dsd, wt1 gene, urologic and male genital diseases, Diseases of the endocrine glands. Clinical endocrinology, frasier syndrome, Endocrinology, Genotype, Internal Medicine, medicine, Exome sequencing, Genetics, business.industry, Research, gonadoblastoma, medicine.disease, RC648-665, Phenotype, Frasier syndrome, female genital diseases and pregnancy complications, Aniridia, Cohort, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f44f78cef7f2c05c7e743210f889efca
https://ec.bioscientifica.com/view/journals/ec/10/12/EC-21-0289.xml

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: Y. Batkov, А. Voskresenskaya, N. Pozdeyeva

المصدر: POINT OF VIEW. EAST – WEST. :33-36

مصطلحات موضوعية: Congenital Aniridia, medicine.medical_specialty, genetic structures, business.industry, medicine.medical_treatment, Ophthalmology, Medicine, sense organs, Cataract surgery, business, eye diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::05a63d2478d024516e63df8009bd099c
https://doi.org/10.25276/2410-1257-2021-3-33-36