المؤلفون: Susmita Chowdhury, Prakash Chermakani, Girish Baliga, Rupa Anjanamurthy, Periasamy Sundaresan

المصدر: Indian Journal of Ophthalmology, Vol 72, Iss 6, Pp 902-911 (2024)

مصطلحات موضوعية: cell adhesion, negative erg, photoreceptors, rs1 gene, retinoschisis, spoke wheel-like macula, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: https://journals.lww.com/10.4103/IJO.IJO_2525_23Test; https://doaj.org/toc/0301-4738Test; https://doaj.org/toc/1998-3689Test

الوصول الحر: https://doaj.org/article/1b52d8042d7a4c338ed97a749f04ab7fTest

المؤلفون: Cetin, Gokhan Ozan, Cetin, Ebru Nevin, Akyol, Tunahan, Ilhan, Hatice Deniz, Pekel, Gokhan

مصطلحات موضوعية: Retinoschisis, RS1 gene, mutation, ellipsoid zone, photoreceptor outer segment thickness, Visual-Acuity, Rs1

العلاقة: Ophthalmic Genetics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1080/13816810.2021.2010772Test; https://hdl.handle.net/11499/46615Test; 43; 318; 325; 2-s2.0-85121100767; WOS:000727085700001

الإتاحة: https://doi.org/10.1080/13816810.2021.2010772Test
https://hdl.handle.net/11499/46615Test

المؤلفون: Gao, Feng-Juan, Dong, Jian-Hong, Wang, Dan-Dan, Chen, Fang, Hu, Fang-Yuan, Chang, Qing, Xu, Ping, Liu, Wei, Li, Jian-Kang, Huang, Ying, Wu, Ji-Hong, Xu, Ge-Zhi

المصدر: Gao , F-J , Dong , J-H , Wang , D-D , Chen , F , Hu , F-Y , Chang , Q , Xu , P , Liu , W , Li , J-K , Huang , Y , Wu , J-H & Xu , G-Z 2021 , ' Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China ' , Acta Ophthalmologica , vol. 99 , no. 4 , pp. e470-e479 . https://doi.org/10.1111/aos.14642Test

مصطلحات موضوعية: Chinese population, clinical diagnosis, molecular genetics, optical coherence tomography, RS1, X‐, linked retinoschisis, RS1 GENE, RETINAL-DETACHMENT, MUTATIONS, FAMILIES, DIAGNOSIS, PHENOTYPE, GENOTYPE, COHORT

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1111/aos.14642Test
https://curis.ku.dk/portal/da/publications/comprehensive-analysis-of-genetic-and-clinical-characteristics-of-30-patients-with-xlinked-juvenile-retinoschisis-in-chinaTest(13b481a1-ce77-424f-b2db-e147d83882c0).html
https://curis.ku.dk/ws/files/273375121/Comprehensive_analysis_of_genetic_and_clinical_characteristics_of_30_patients_with_X_linked_juvenile_retinoschisis_in_China.pdfTest

المؤلفون: PIERMAROCCHI, STEFANO, MIOTTO, STEFANIA, Colavito Davide, Giudice Elda Del, Leon Alberta, Maritan Veronica, Piermarocchi Rita, Patrizia Tormene Alma

المساهمون: Piermarocchi, Stefano, Miotto, Stefania, Colavito, Davide, Giudice Elda, Del, Leon, Alberta, Maritan, Veronica, Piermarocchi, Rita, Patrizia Tormene, Alma

مصطلحات موضوعية: X-linked retinoschisis, RS1 gene, retinoschisin

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/isbn/2049-9442; info:eu-repo/semantics/altIdentifier/wos/WOS:000417414200009; volume:7; issue:3; firstpage:241; lastpage:246; numberofpages:6; journal:BIOMEDICAL REPORTS; http://hdl.handle.net/11577/3239842Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85040062380; https://www.spandidos-publications.com/10.3892/br.2017.954Test

الإتاحة: https://doi.org/10.3892/br.2017.954Test
http://hdl.handle.net/11577/3239842Test

المؤلفون: Sudha, D, Kohansal-Nodehi, M, Kovuri, P, Manda, S.S, Neriyanuri, S, Gopal, L, Bhende, P, Chidambaram, S, Arunachalam, J.P

المساهمون: DEPT OF OPHTHALMOLOGY

المصدر: Unpaywall 20201031

مصطلحات موضوعية: liver X receptor, retinoid X receptor, retinol dehydrogenase, retinol dehydrogenase 14, retinoschisin, unclassified drug, acute phase response, adult, Article, body fluid, case report, child, complement system, discoidin domain, extracellular matrix, gene mutation, gene ontology, genetic screening, human, inflammation, intraschisis cavity fluid, male, mass spectrometry, polyacrylamide gel electrophoresis, preschool child, protein localization, proteomics, retinoschisis, RS1 gene, signal transduction

العلاقة: Sudha, D, Kohansal-Nodehi, M, Kovuri, P, Manda, S.S, Neriyanuri, S, Gopal, L, Bhende, P, Chidambaram, S, Arunachalam, J.P (2017). Proteomic profiling of human intraschisis cavity fluid. Clinical Proteomics 14 (1) : 13. ScholarBank@NUS Repository. https://doi.org/10.1186/s12014-017-9148-yTest; https://scholarbank.nus.edu.sg/handle/10635/183534Test

الإتاحة: https://doi.org/10.1186/s12014-017-9148-yTest
https://scholarbank.nus.edu.sg/handle/10635/183534Test

المؤلفون: Xiu-Feng Huang, Chang-Sen Tu, Dong-Jun Xing, De-Kang Gan, Ge-Zhi Xu, Zi-Bing Jin

المصدر: International Journal of Ophthalmology, Vol 7, Iss 1, Pp 169-172 (2014)

مصطلحات موضوعية: X-linked retinoschisis, glaucoma, RS1 gene, mutation, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951554Test/; https://doaj.org/toc/2222-3959Test; https://doaj.org/toc/2227-4898Test

الوصول الحر: https://doaj.org/article/0196c1c22dbd4206945e1e0a241b596fTest

المؤلفون: Gokhan Ozan Cetin, Ebru Nevin Cetin, Tunahan Akyol, Hatice Deniz Ilhan, Gokhan Pekel

المصدر: Ophthalmic genetics. 43(3)

مصطلحات موضوعية: Male, Rs1, Genotype, Retinoschisis, RS1 gene, Ophthalmology, Phenotype, Pediatrics, Perinatology and Child Health, Electroretinography, Humans, Visual-Acuity, mutation, ellipsoid zone, Eye Proteins, photoreceptor outer segment thickness, Genetics (clinical), Tomography, Optical Coherence, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34adca411f1a960ffb23001ca91ad6f6Test
https://pubmed.ncbi.nlm.nih.gov/34865595Test

المؤلفون: Ying Huang, Jian-Hong Dong, Dan-Dan Wang, Jihong Wu, Gezhi Xu, Jiankang Li, Wei Liu, Feng-Juan Gao, Qing Chang, Fang-Yuan Hu, Ping Xu, Fang Chen

المصدر: Gao, F-J, Dong, J-H, Wang, D-D, Chen, F, Hu, F-Y, Chang, Q, Xu, P, Liu, W, Li, J-K, Huang, Y, Wu, J-H & Xu, G-Z 2021, ' Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China ', Acta Ophthalmologica, vol. 99, no. 4, pp. e470-e479 . https://doi.org/10.1111/aos.14642Test
Acta Ophthalmologica

مصطلحات موضوعية: Male, Visual acuity, RS1, DNA Mutational Analysis, Visual Acuity, linked retinoschisis, Gene mutation, PHENOTYPE, FAMILIES, 0302 clinical medicine, RS1 GENE, Missense mutation, RETINAL-DETACHMENT, Child, Incidence, General Medicine, Middle Aged, Pedigree, GENOTYPE, clinical diagnosis, Child, Preschool, Cohort, Female, Original Article, Chinese population, medicine.symptom, Tomography, Optical Coherence, Adult, China, medicine.medical_specialty, Adolescent, Retinoschisis, Genetic counseling, Mutation, Missense, DIAGNOSIS, Retina, Young Adult, 03 medical and health sciences, Ophthalmology, Molecular genetics, Electroretinography, medicine, Humans, COHORT, Genetic Association Studies, Retrospective Studies, optical coherence tomography, MUTATIONS, business.industry, Reproducibility of Results, DNA, Original Articles, molecular genetics, 030221 ophthalmology & optometry, X‐, Differential diagnosis, X‐linked retinoschisis, business, RETINOSCHISIN, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::924b6d4b53ffd108da703ba51378bcecTest
https://doi.org/10.1111/aos.14642Test

المؤلفون: Davide Colavito, Alberta Leon, Rita Piermarocchi, Alma Patrizia Tormene, Stefano Piermarocchi, Elda Del Giudice, Veronica Maritan, Stefania Miotto

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Outer plexiform layer, retinoschisin, Biology, X-linked retinoschisis, RS1 gene, retinoschisin, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Genotype-phenotype distinction, Ophthalmology, medicine, General Pharmacology, Toxicology and Pharmaceutics, Ganglion cell layer, Genetics, medicine.diagnostic_test, General Neuroscience, Fundus photography, Retinal, RS1 gene, General Medicine, Articles, medicine.disease, Fluorescein angiography, 030104 developmental biology, medicine.anatomical_structure, chemistry, 030221 ophthalmology & optometry, Maculopathy, RETINOSCHISIN, X-linked retinoschisis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27f755052b4c921cc34b61203faad140Test
http://hdl.handle.net/11577/3239842Test

المؤلفون: Hu, Qin-Rui, Huang, Lv-Zhen, Chen, Xiao-Li, Xia, Hui-Ka, Li, Tian-Qi, Li, Xiao-Xin

المساهمون: Li, XX (reprint author), Peking Univ Peoples Hosp, Dept Ophthalmol, Minist Educ, Key Lab Vision Loss & Restorat, Xizhimen South Street 11, Beijing, Peoples R China., Peking Univ Peoples Hosp, Dept Ophthalmol, Minist Educ, Key Lab Vision Loss & Restorat, Xizhimen South Street 11, Beijing, Peoples R China.

المصدر: SCI

مصطلحات موضوعية: JUVENILE RETINOSCHISIS, RS1 GENE, B-WAVE, MUTATIONS, FAMILIES, RETINOPATHY, THERAPY, MOUSE, BEVACIZUMAB, DORZOLAMIDE

العلاقة: SCIENTIFIC REPORTS.2017,7.; 1909042; http://hdl.handle.net/20.500.11897/474642Test; WOS:000395770000001

الإتاحة: https://doi.org/20.500.11897/474642Test
https://doi.org/10.1038/srep44060Test
https://hdl.handle.net/20.500.11897/474642Test