المؤلفون: Diego I Paredes, Jenina E Capasso, Celeste S Wyman, Alex V Levin

المصدر: Taiwan Journal of Ophthalmology, Vol 13, Iss 4, Pp 500-504 (2023)

مصطلحات موضوعية: anterior segment mesenchymal dysgenesis, cornea, lens, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: http://www.e-tjo.org/article.asp?issn=2211-5056;year=2023;volume=13;issue=4;spage=500;epage=504;aulast=ParedesTest; https://doaj.org/toc/2211-5056Test; https://doaj.org/toc/2211-5072Test

الوصول الحر: https://doaj.org/article/1adacfcb899847a9b379ddc7047fe7d0Test

المؤلفون: Vasilyeva T.A., Voskresenskaya A.A., Khlebnikova O.V., Pozdeyeva N.A., Marakhonov A.V., Zinchenko R.A.

المساهمون: Российский научный фонд (грант №17-15-01051)

المصدر: Annals of the Russian academy of medical sciences; Vol 72, No 4 (2017); 233-241 ; Вестник Российской академии медицинских наук; Vol 72, No 4 (2017); 233-241 ; 2414-3545 ; 0869-6047 ; 10.15690/vramn724

مصطلحات موضوعية: congenital aniridia, WAGR syndrome, anterior segment mesenchymal dysgenesis, PAX6 protein, deletion 11p13, врожденная аниридия, WAGR-синдром, дисгенезии переднего отрезка глаза, PAX6, 11p13

وصف الملف: application/pdf

العلاقة: https://vestnikramn.spr-journal.ru/jour/article/view/834/823Test; https://vestnikramn.spr-journal.ru/jour/article/downloadSuppFile/834/303Test; https://vestnikramn.spr-journal.ru/jour/article/downloadSuppFile/834/304Test; https://vestnikramn.spr-journal.ru/jour/article/view/834Test

الإتاحة: https://doi.org/10.15690/vramn834Test
https://doi.org/10.15690/vramn724Test
https://vestnikramn.spr-journal.ru/jour/article/view/834Test

المؤلفون: Miguel Angel Alcántara-Ortigoza, Nancy Hernández-Martínez, Luz María González-Huerta, Ariadna González-del Angel, Sergio A. Cuevas-Covarrubias, Cristina Villanueva-Mendoza

المصدر: Ophthalmic Genetics. 39:728-734

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Genotype, PAX6 Transcription Factor, Mutation, Missense, Biology, Young Adult, 03 medical and health sciences, Dysgenesis, Anterior Eye Segment, medicine, Humans, Eye Abnormalities, Anterior segment mesenchymal dysgenesis, Child, Mexico, Molecular Biology, Genetics (clinical), Homeodomain Proteins, Infant, Eye Diseases, Hereditary, Forkhead Transcription Factors, Anatomy, medicine.disease, Sample (graphics), Ophthalmology, 030104 developmental biology, Child, Preschool, Cytochrome P-450 CYP1B1, Pediatrics, Perinatology and Child Health, Female, Multiplex Polymerase Chain Reaction, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8be3dbb85372c88323825bc64759e26bTest
https://doi.org/10.1080/13816810.2018.1547911Test

المؤلفون: Saskia Biskup, Hanna Faber, Anja Holz, Oliver Puk, Bogomil Voykov

المصدر: Cornea. 40(3)

مصطلحات موضوعية: Collagen Type IV, medicine.disease_cause, Slit Lamp Microscopy, 03 medical and health sciences, Basal (phylogenetics), Dysgenesis, symbols.namesake, 0302 clinical medicine, Corneal Opacity, Anterior Eye Segment, Exome Sequencing, medicine, Humans, Anterior segment mesenchymal dysgenesis, Eye Abnormalities, Gene, Stroke, Exome sequencing, Genetics, Sanger sequencing, Mutation, business.industry, Infant, Newborn, medicine.disease, Ophthalmology, Phenotype, 030221 ophthalmology & optometry, symbols, Female, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a16ce380c275e33f567a64c9d6b9ee19Test
https://pubmed.ncbi.nlm.nih.gov/33284162Test

المؤلفون: T.A. Vasilyeva, O. V. Khlebnikova, Rena A. Zinchenko, N. A. Pozdeyeva, Andrey V. Marakhonov, A. A. Voskresenskaya

المصدر: Annals of the Russian academy of medical sciences. 72:233-241

مصطلحات موضوعية: Genetics, WAGR syndrome, Locus (genetics), General Medicine, Biology, Molecular diagnostics, medicine.disease, eye diseases, Developmental disorder, Dysgenesis, medicine, sense organs, PAX6, Anterior segment mesenchymal dysgenesis, Differential diagnosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::aae869877fc60c03a5a7530da8ac7d98Test
https://doi.org/10.15690/vramn834Test

المؤلفون: Deepti Anand, Salil A. Lachke, Anne Slavotinek, Smriti A. Agrawal

المصدر: Human mutation. 39(4)

مصطلحات موضوعية: 0301 basic medicine, Hearing Loss, Sensorineural, Mutant, Biology, medicine.disease_cause, Microphthalmia, Cataract, Article, 03 medical and health sciences, Cataracts, Heat Shock Transcription Factors, Intellectual Disability, Genetics, medicine, Animals, Humans, Anterior segment mesenchymal dysgenesis, Eye Abnormalities, Gene, Genetics (clinical), Growth Disorders, Homeodomain Proteins, Mutation, Facies, Forkhead Transcription Factors, medicine.disease, eye diseases, Microcornea, 030104 developmental biology, Proto-Oncogene Proteins c-maf, sense organs, Transcription Factor Gene, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff3e23b3e2a29618770d6440c8079490Test
https://pubmed.ncbi.nlm.nih.gov/29314435Test

المؤلفون: Berry, A. T. Moore, Shomi S. Bhattacharya, Peter J. Francis, Alexander Ionides, P. K. F. Addison

المصدر: British Journal of Ophthalmology. 89:138-141

مصطلحات موضوعية: Adult, Male, Adolescent, Visual Acuity, Clinical Science - Scientific Reports, Biology, medicine.disease_cause, Cataract, Cellular and Molecular Neuroscience, Exon, Dysgenesis, Anterior Eye Segment, Mutant protein, Gene duplication, medicine, Humans, Anterior segment mesenchymal dysgenesis, Child, Gene, Aged, Genes, Dominant, Aged, 80 and over, Chromosome Aberrations, Family Health, Homeodomain Proteins, Genetics, Mutation, medicine.disease, eye diseases, Sensory Systems, Pedigree, Ophthalmology, Posterior polar cataract, Phenotype, Female, Echo, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fa189dcb55f25fc13b8fe17ca2614c9Test
https://doi.org/10.1136/bjo.2004.053413Test

المؤلفون: Geeta Behera, Murugesan Vanathi, Anita Panda, Tanuj Dada, Seema Sen, Sudharshan Khokhar

المصدر: Cornea. 26:111-113

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, CORNEAL LESION, Corneal Diseases, Mesoderm, Dysgenesis, Anterior Eye Segment, Ophthalmology, medicine, Humans, Eye Abnormalities, Anterior segment mesenchymal dysgenesis, Congenital corneal keloid, Mass/lesion, business.industry, Anatomy, Lens Subluxation, Hyperplasia, medicine.disease, eye diseases, medicine.anatomical_structure, Keloid, Lens (anatomy), sense organs, business, Bowman Membrane, Keratoplasty, Penetrating

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa953d53bb19e8a3eb07aeb0f5f8e99bTest
https://doi.org/10.1097/01.ico.0000243952.84224.feTest

المؤلفون: Carmencita D. Padilla, Maree P. Flaherty, David Sillence

المصدر: Ophthalmic Paediatrics and Genetics. 12:23-30

مصطلحات موضوعية: Adolescent, Iris, Tissue Adhesions, Incontinentia pigmenti achromians, digestive system, Skin hypopigmentation, Iris abnormalities, Anterior Eye Segment, medicine, Humans, Abnormalities, Multiple, Anterior segment mesenchymal dysgenesis, Genetics (clinical), Neurocristopathy, business.industry, Neurocutaneous Disorder, Anatomy, medicine.disease, Ophthalmology, Karyotyping, Pediatrics, Perinatology and Child Health, Female, Skeletal abnormalities, Axenfeld anomaly, business, Pigmentation Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5af0d79fedc1a812c8422fc891ff9c9fTest
https://doi.org/10.3109/13816819109023081Test

المؤلفون: Meng Li, Jennifer Nichols, Kuo-Hsuan Chang, Hsin-Yi Ho

المصدر: Mechanisms of development. 126(1-2)

مصطلحات موضوعية: Embryology, Receptor, Platelet-Derived Growth Factor alpha, Mitosis, Mice, Transgenic, Biology, Mice, Genes, Reporter, Lens, Crystalline, medicine, Null cell, Animals, Anterior segment mesenchymal dysgenesis, gamma-Crystallins, Homeodomain Proteins, Gene Expression Regulation, Developmental, Cell Differentiation, Epithelial Cells, Cell cycle, medicine.disease, Cadherins, Embryonic stem cell, Molecular biology, beta-Crystallins, eye diseases, medicine.anatomical_structure, Fiber cell, Lens (anatomy), Mutation, Homeobox, Developmental Biology, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e25984ae8f053bac1c69a6900e175baTest
https://pubmed.ncbi.nlm.nih.gov/19007884Test