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

Relation: https://journals.lww.com/10.4103/IJO.IJO_2525_23; https://doaj.org/toc/0301-4738; https://doaj.org/toc/1998-3689

URL الوصول: https://doaj.org/article/1b52d8042d7a4c338ed97a749f04ab7f

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

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

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

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

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.14642

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

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

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

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951554/; https://doaj.org/toc/2222-3959; https://doaj.org/toc/2227-4898

URL الوصول: https://doaj.org/article/0196c1c22dbd4206945e1e0a241b596f

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

Relation: 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/11577/3239842; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85040062380; https://www.spandidos-publications.com/10.3892/br.2017.954

الاتاحة: http://hdl.handle.net/11577/3239842
https://doi.org/10.3892/br.2017.954
https://www.spandidos-publications.com/10.3892/br.2017.954

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

المساهمون: 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

Relation: 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-y; https://scholarbank.nus.edu.sg/handle/10635/183534

الاتاحة: https://scholarbank.nus.edu.sg/handle/10635/183534

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34adca411f1a960ffb23001ca91ad6f6
https://pubmed.ncbi.nlm.nih.gov/34865595

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27f755052b4c921cc34b61203faad140
http://hdl.handle.net/11577/3239842

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

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

الاتاحة: https://hdl.handle.net/20.500.11897/474642
https://doi.org/10.1038/srep44060

المؤلفون: Qingjiong Zhang, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Panfeng Wang, Junhui Yi, Xiangming Guo

المصدر: International Journal of Molecular Medicine

مصطلحات موضوعية: China, Retinoschisis, DNA Mutational Analysis, Mutation, Missense, Biology, medicine.disease_cause, law.invention, Exon, symbols.namesake, Asian People, law, Genetics, medicine, Missense mutation, Humans, Eye Proteins, Gene, Polymerase chain reaction, DNA Primers, Sanger sequencing, Hemizygote, Mutation, RS1 gene, General Medicine, Articles, Exons, medicine.disease, mutations, Molecular biology, Genetic Loci, symbols, Sequence Alignment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e5e2f5f6645632dabcd344f27b7e334
http://europepmc.org/articles/PMC3573736

المؤلفون: Ma, Xiang, Li, Xiaoxin, Wang, Lihua

المساهمون: Li, XX (reprint author), Peking Univ, Peoples Hosp, Eye Ctr Peking Univ, 11 Xizhimen S St, Beijing 100044, Peoples R China., Peking Univ, Peoples Hosp, Eye Ctr Peking Univ, Beijing 100044, Peoples R China., Peking Univ, Peoples Hosp, Eye Ctr Peking Univ, 11 Xizhimen S St, Beijing 100044, Peoples R China.

المصدر: PubMed ; SCI

مصطلحات موضوعية: Chinese patients, juvenile retinoschisis, mutation, RS1 gene, X-linked, EXPRESSION, RS1

Relation: JAPANESE JOURNAL OF OPHTHALMOLOGY.2008,52,(1),48-51.; 675667; http://hdl.handle.net/20.500.11897/159628; WOS:000254438700008

الاتاحة: https://hdl.handle.net/20.500.11897/159628
https://doi.org/10.1007/s10384-007-0488-4