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1
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
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2
المؤلفون: George Varghese Puthuran, Alan L. Robin, Steven J. Gedde, Indira Durai, Paul F. Palmberg, Mohammed Sithiq Uduman, Srilekha Pallamparthy, Subbaiah Ramasamy Krishnadas, Hiruni Kaushalya Wijesinghe
المصدر: American Journal of Ophthalmology. 227:173-181
مصطلحات موضوعية: Adult, Male, Alkylating Agents, medicine.medical_specialty, Adolescent, genetic structures, Mitomycin, medicine.medical_treatment, Visual Acuity, Glaucoma, Trabeculectomy, Cataract Extraction, Prosthesis Implantation, Cataract extraction, Tonometry, Ocular, Young Adult, medicine, Humans, Child, Glaucoma Drainage Implants, Aniridia, Intraocular Pressure, Retrospective Studies, business.industry, Mitomycin C, Retrospective cohort study, Cataract surgery, medicine.disease, Combined Modality Therapy, eye diseases, Surgery, Ophthalmology, Treatment Outcome, Child, Preschool, Female, sense organs, Implant, business, Glaucoma, Open-Angle, Follow-Up Studies
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3
المؤلفون: Xiaoyan Li, Zhuoling Lin, Jingjing Chen, Haotian Lin, Weirong Chen, Xiaohang Wu, Hui Chen
المصدر: Current Eye Research. 45:1292-1297
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, genetic structures, Significant negative correlation, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Optical coherence tomography, Ophthalmology, Humans, Medicine, Child, Aniridia, medicine.diagnostic_test, Choroid, business.industry, Healthy subjects, Organ Size, Axial length, medicine.disease, eye diseases, Sensory Systems, Congenital Aniridia, Cross-Sectional Studies, Child, Preschool, 030221 ophthalmology & optometry, Female, sense organs, business, Tomography, Optical Coherence, 030217 neurology & neurosurgery
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4
المؤلفون: Gülizar Demirok, Umit Eksioglu, Mehmet Yakin, Sema Tamer Kaderli, Firdevs Örnek, Ahmet Kaderli
المصدر: Turkish Journal of Ophthalmology
Türk Oftalmoloji Dergisi, Vol 49, Iss 4, Pp 183-187 (2019)مصطلحات موضوعية: glaucoma drainage devices, Adult, Male, Intraocular pressure, medicine.medical_specialty, Visual acuity, Adolescent, genetic structures, Visual Acuity, lcsh:Medicine, Glaucoma, Aniridia-related glaucoma, Glaucoma valve, Prosthesis Implantation, Young Adult, Postoperative Complications, lcsh:Ophthalmology, Humans, Medicine, Child, Glaucoma Drainage Implants, Aniridia, Antihypertensive Agents, Intraocular Pressure, Retrospective Studies, business.industry, lcsh:R, Long term results, medicine.disease, eye diseases, Surgery, Congenital Aniridia, Ophthalmology, lcsh:RE1-994, Child, Preschool, Concomitant, Original Article, Female, sense organs, medicine.symptom, business, congenital aniridia
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المؤلفون: Tushar Agarwal, Jeewan S Titiyal, Namrata Sharma, Rahul Kumar Bafna, Rinky Agarwal, Ritu Nagpal, K. Priyadarshini, Prafulla K. Maharana, Rajesh Sinha
المصدر: American Journal of Ophthalmology. 221:190-198
مصطلحات موضوعية: Male, medicine.medical_specialty, Lens extraction, Adolescent, medicine.medical_treatment, Decision Making, Microscopy, Acoustic, Visual Acuity, Ultrasound biomicroscopy, Physical examination, Vitrectomy, Surgical planning, Corneal Transplantation, 03 medical and health sciences, Corneal Opacity, 0302 clinical medicine, Optical coherence tomography, Anterior Eye Segment, medicine, Humans, Prospective Studies, Child, Retrospective Studies, 030304 developmental biology, 0303 health sciences, medicine.diagnostic_test, business.industry, Infant, medicine.disease, Surgery, Ophthalmology, Aniridia, Child, Preschool, Concomitant, 030221 ophthalmology & optometry, Female, business, Tomography, Optical Coherence
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المؤلفون: Cristina Bautista, Jorge L. Alió, Ana Siverio, Pilar Casas-Llera, Gemma Esquivel
المصدر: European Journal of Ophthalmology
مصطلحات موضوعية: Adult, Male, Fovea Centralis, medicine.medical_specialty, Prognostic factor, Visual acuity, Adolescent, genetic structures, Vision Disorders, Visual Acuity, Spectral domain, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Optical coherence tomography, Foveal, Ophthalmology, Correspondence, medicine, Humans, Child, Aniridia, Retrospective Studies, medicine.diagnostic_test, business.industry, General Medicine, Middle Aged, Prognosis, medicine.disease, eye diseases, Hypoplasia, Congenital Aniridia, Child, Preschool, 030221 ophthalmology & optometry, Female, sense organs, medicine.symptom, business, Tomography, Optical Coherence, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad799b00c0ad261035c5a4ee2e758add
https://doi.org/10.1177/1120672118818352 -
7
المؤلفون: Bai, Zhouxian, Kong, Xiangdong
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, frameshift mutation, Adolescent, PAX6 Transcription Factor, Germline mosaicism, Biology, Germline, Frameshift mutation, Islets of Langerhans, 03 medical and health sciences, symbols.namesake, male gonadal mosaicism, Genetics, medicine, Humans, Missense mutation, Gonads, Aniridia, Molecular Biology, Genetics (clinical), Sanger sequencing, double mutation, Mosaicism, Original Articles, Middle Aged, medicine.disease, eye diseases, PAX6, Pedigree, 030104 developmental biology, Child, Preschool, Mutation, Mutation (genetic algorithm), symbols, Original Article, Female, sense organs, congenital aniridia
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المؤلفون: You, Bing, Zhang, Xiaohui, Xu, Ke, Xie, Yue, Ye, Hanwen, Li, Yang
المصدر: Molecular Vision
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, DNA Copy Number Variations, PAX6 Transcription Factor, RNA Splicing, Mutation, Missense, Iris, Cell Line, Cohort Studies, Asian People, INDEL Mutation, Humans, Child, Frameshift Mutation, Aniridia, Genetic Association Studies, Silent Mutation, Aged, Infant, Sequence Analysis, DNA, Middle Aged, eye diseases, Codon, Nonsense, Child, Preschool, Female, sense organs, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a64e6ed93a1f244d065dae9cca29ba08
http://europepmc.org/articles/PMC7093334 -
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المؤلفون: Mariya Moosajee, Samantha Malka, Ian Christopher Lloyd, Suzannah Bell
المصدر: Genes
Volume 12
Issue 2
Genes, Vol 12, Iss 131, p 131 (2021)مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, genetic structures, 0302 clinical medicine, Medical diagnosis, Child, Genetics (clinical), medicine.diagnostic_test, Age Factors, High-Throughput Nucleotide Sequencing, targeted gene panels, Childhood cataract, Bilateral Cataracts, Phenotype, genomic medicine, Child, Preschool, Medical genetics, Lens disorder, Female, Adult, medicine.medical_specialty, Adolescent, Genotype, lcsh:QH426-470, aniridia, Cataract, Article, genetic testing, Young Adult, 03 medical and health sciences, Cataracts, Genetics, medicine, Humans, Genetic Predisposition to Disease, Alleles, Genetic Association Studies, Genetic testing, business.industry, childhood/congenital cataracts, Infant, Newborn, Infant, medicine.disease, eye diseases, retinal dystrophies, lcsh:Genetics, 030104 developmental biology, Aniridia, Mutation, 030221 ophthalmology & optometry, next-generation sequencing, sense organs, business
وصف الملف: application/pdf
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المؤلفون: Akira Kinoshita, Tatsuya Kishino, Ryoichi Mori, Naoko Asahina, Yutaka Negishi, Hideaki Shiraishi, Kana Hosoki, Koh-ichiro Yoshiura, Masahiro Nakashima, Kiyotaka Tomiwa, Katsuya Matsuda, Shinji Saitoh, Hiroyuki Mishima, Naoko Ishihara, Susumu Tanimura, Kaname Ohyama
المصدر: Development. 148
مصطلحات موضوعية: Male, Gene isoform, Corneal endothelium, Adolescent, Cerebellar Ataxia, Mice, Transgenic, SOX9, Biology, Transfection, Gillespie syndrome, Mice, Young Adult, Anterior Eye Segment, Intellectual Disability, medicine, Animals, Humans, Inositol 1,4,5-Trisphosphate Receptors, Protein Isoforms, Gene Knock-In Techniques, Child, Aniridia, Molecular Biology, Actin, Endoplasmic reticulum, Infant, Neural crest, Exons, medicine.disease, eye diseases, Cell biology, Mice, Inbred C57BL, Disease Models, Animal, HEK293 Cells, Neural Crest, Child, Preschool, Mutation, NIH 3T3 Cells, Female, Developmental Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1e41fcef1d28db166ddd512ce170472
https://doi.org/10.1242/dev.188755
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