المؤلفون: Tatyana Appelbaum, Gustavo D. Aguirre, William A. Beltran

المصدر: RNA Biology, Vol 20, Iss 1, Pp 31-47 (2023)

مصطلحات موضوعية: rpgr gene, alternative splicing, circular rna, mrna, non-coding rna, chimeric rna, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1547-6286; https://doaj.org/toc/1555-8584

URL الوصول: https://doaj.org/article/0f3d65e8d5ae492da53e4544ce2e6753

المؤلفون: Zuzana Kolkova, Peter Durdik, Veronika Holubekova, Anna Durdikova, Milos Jesenak, Peter Banovcin

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: RPGR gene, mutation, retinitis pigmentosa, primary ciliary dyskinesia, X-linked inheritance, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1339664/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/1cf512fae3a54b1da4fe01e447a88197

المؤلفون: Katarzyna Nowomiejska, Katarzyna Baltaziak, Paulina Całka, Marzanna Ciesielka, Grzegorz Teresiński, Robert Rejdak

المصدر: Genes, Vol 14, Iss 10, p 1950 (2023)

مصطلحات موضوعية: retinitis pigmentosa, RPGR gene, next-generation sequencing, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/14/10/1950; https://doaj.org/toc/2073-4425; https://doaj.org/article/cedc055c4f814f4d8c3530fddb2d04b9

الاتاحة: https://doi.org/10.3390/genes14101950
https://doaj.org/article/cedc055c4f814f4d8c3530fddb2d04b9

المؤلفون: Xiaozhen Liu, Ruixuan Jia, Xiang Meng, Likun Wang, Liping Yang

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: inherited retinal dystrophies, female carriers, hereditary eye disease enrichment panel, RPGR gene, in vitro splice assay, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.999695/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/f4ca45f0be104d3c842d2ca7aa6317e6

المؤلفون: Tatyana Appelbaum (4015127), Gustavo D. Aguirre (11828606), William A. Beltran (11828609)

مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Immunology, Cancer, Hematology, Infectious Diseases, Virology, Biological Sciences not elsewhere classified, RPGR gene, alternative splicing, circular RNA, mRNA, non-coding RNA, chimeric RNA

Relation: https://figshare.com/articles/dataset/Identification_of_circular_RNAs_hosted_by_the_i_RPGR_i_ORF15_genomic_locus/21804773

الاتاحة: https://doi.org/10.6084/m9.figshare.21804773.v1

المؤلفون: PARMEGGIANI, Francesco, Vanessa Barbaro, Katia De Nadai, Enrico Lavezzo, Stefano Toppo, Marzio Chizzolini, Giorgio Palù, Cristina Parolin, Enzo Di Iorio

المساهمون: Parmeggiani, Francesco, Vanessa, Barbaro, Katia De, Nadai, Enrico, Lavezzo, Stefano, Toppo, Marzio, Chizzolini, Giorgio, Palù, Cristina, Parolin, Enzo Di, Iorio

مصطلحات موضوعية: X-linked retinitis pigmentosa, pathologic myopia, RPGR gene, exon ORF15, gain-of-function mutation

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/27995965; info:eu-repo/semantics/altIdentifier/wos/WOS:000390088300001; volume:6; firstpage:39179-1; lastpage:39179-8; numberofpages:8; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/11392/2355924; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85006790388; https://www.nature.com/articles/srep39179.pdf

الاتاحة: http://hdl.handle.net/11392/2355924
https://doi.org/10.1038/srep39179
https://www.nature.com/articles/srep39179.pdf

المؤلفون: Xiaozhen Liu, Ruixuan Jia, Xiang Meng, Likun Wang, Liping Yang

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, inherited retinal dystrophies, female carriers, hereditary eye disease enrichment panel, RPGR gene, in vitro splice assay

Relation: https://figshare.com/articles/dataset/DataSheet1_Analysis_of_RPGR_gene_mutations_in_41_Chinese_families_affected_by_X-linked_inherited_retinal_dystrophy_PDF/21283893

الاتاحة: https://doi.org/10.3389/fgene.2022.999695.s001
https://figshare.com/articles/dataset/DataSheet1_Analysis_of_RPGR_gene_mutations_in_41_Chinese_families_affected_by_X-linked_inherited_retinal_dystrophy_PDF/21283893

المؤلفون: Ogino, Ken, Oishi, Maho, Oishi, Akio, Morooka, Satoshi, Sugahara, Masako, Gotoh, Norimoto, Kurimoto, Masafumi, Yoshimura, Nagahisa

المساهمون: 荻野, 顕, 諸岡, 諭, 後藤, 謙元, 吉村, 長久, 50572955, 80738005

مصطلحات موضوعية: Radial pattern, RPGR gene, Wide-field fundus autofluorescence, X-linked retinitis pigmentosa

وصف الملف: application/pdf

Relation: http://hdl.handle.net/2433/215066; Clinical Ophthalmology; 1467; 1474

الاتاحة: http://hdl.handle.net/2433/215066

المؤلفون: Thiadens, A.A.H.J. (Alberta), Soerjoesing, G.G. (Gyan), Florijn, R.J., Tjiam, A.G., Hollander, A.I. (Anneke), Born, L.I. (Ingeborgh) van den, Riemslag, F.C.C. (Frans), Bergen, A.A.B. (Arthur), Klaver, C.C.W. (Caroline)

المصدر: Graefe's Archive for Clinical and Experimental Ophthalmology vol. 249 no. 10, pp. 1527-1535

مصطلحات موضوعية: Clinical course, Cone dystrophy, ERG, Novel mutation, ORF15, RPGR gene

Relation: http://repub.eur.nl/pub/33907; urn:hdl:1765/33907

الاتاحة: http://repub.eur.nl/pub/33907
https://doi.org/10.1007/s00417-011-1789-3

المؤلفون: Chunli Wei, Hanchun Chen, Jingliang Cheng, Hongbin Lv, Jiewen Fu, Junjiang Fu, Qi Zhou

المصدر: Bioscience Reports

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, China, Mutation, Missense, Biophysics, Expression, Biology, medicine.disease_cause, Biochemistry, Molecular Bases of Health & Disease, Mice, 03 medical and health sciences, symbols.namesake, Exon, 0302 clinical medicine, Asian People, Retinitis pigmentosa, medicine, Animals, Humans, Missense mutation, Family, Eye Proteins, Molecular Biology, Gene, Diagnostics & Biomarkers, Research Articles, Sanger sequencing, Genetics, Mutation, missense mutation, Genetic Diseases, X-Linked, Cell Biology, medicine.disease, Phenotype, eye diseases, Targeted next-generation sequencing (TGS), 030104 developmental biology, Amino Acid Substitution, 030220 oncology & carcinogenesis, symbols, Female, sense organs, RPGR gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d9d809387e77e3e8c3d2d542738ee98
https://doi.org/10.1042/bsr20192235

المؤلفون: Satoshi Morooka, Masako Sugahara, Nagahisa Yoshimura, Norimoto Gotoh, Ken Ogino, Maho Oishi, Akio Oishi, Masafumi Kurimoto

المصدر: Clinical Ophthalmology (Auckland, N.Z.)

مصطلحات موضوعية: medicine.medical_specialty, genetic structures, business.industry, Posterior pole, Clinical Ophthalmology, Fundus (eye), medicine.disease, X-linked retinitis pigmentosa, Fundus autofluorescence, eye diseases, Visual field, Ophthalmology, Autofluorescence, Retinitis pigmentosa, medicine, In patient, sense organs, RPGR gene, business, Radial pattern, Wide-field fundus autofluorescence, Original Research

وصف الملف: application/pdf; text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bb8c7f0085d46e3e7a5646971e37336
http://hdl.handle.net/2433/215066

المؤلفون: Vanessa Barbaro, Katia De Nadai, Marzio Chizzolini, Stefano Toppo, Francesco Parmeggiani, Enzo Di Iorio, Enrico Lavezzo, Cristina Parolin, Giorgio Palù

المصدر: Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, DNA Mutational Analysis, gain-of-function mutation, Loss of heterozygosity, Exon, 0302 clinical medicine, Genes, X-Linked, Myopia, Child, Frameshift Mutation, Sanger sequencing, Genetics, Multidisciplinary, Retinitis pigmentosa GTPase regulator, Exons, Middle Aged, Penetrance, Pedigree, Italy, symbols, Female, X-linked retinitis pigmentosa, pathologic myopia, RPGR gene, exon ORF15, gain-of-function mutation, RPGR gene, Retinitis Pigmentosa, Adult, Heterozygote, Genotype, Biology, White People, Article, Frameshift mutation, NO, 03 medical and health sciences, symbols.namesake, Open Reading Frames, exon ORF15, Retinitis pigmentosa, medicine, Humans, Eye Proteins, Genetic Association Studies, Hemizygote, pathologic myopia, medicine.disease, X-linked retinitis pigmentosa, eye diseases, Protein Structure, Tertiary, 030104 developmental biology, 030221 ophthalmology & optometry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e08018b9fd5abf39599695e879a265d
http://hdl.handle.net/11577/3224395

المؤلفون: Shu, Xinhua, Simpson, Julie R., Hart, Alan W., Zeng, Zhihong, Patnaik, Sarita Rani, Gautier, Philippe, Murdoch, Emma, Tulloch, Brian, Wright, Alan F.

المصدر: Shu , X , Simpson , J R , Hart , A W , Zeng , Z , Patnaik , S R , Gautier , P , Murdoch , E , Tulloch , B & Wright , A F 2012 , ' Functional characterization of the human RPGR proximal promoter ' , Investigative Ophthalmology & Visual Science , vol. 53 , no. 7 , pp. 3951-3958 . https://doi.org/10.1167/iovs.11-8811

مصطلحات موضوعية: gene mutations, human RPGR gene

Relation: https://researchonline.gcu.ac.uk/en/publications/a835e983-a0f4-4cce-b11e-692f3d1e7de1

الاتاحة: https://researchonline.gcu.ac.uk/en/publications/a835e983-a0f4-4cce-b11e-692f3d1e7de1
https://doi.org/10.1167/iovs.11-8811
http://www.scopus.com/inward/record.url?eid=2-s2.0-84871862804&partnerID=8YFLogxK

المؤلفون: Frans C. C. Riemslag, A. G. Tjiam, L. Ingeborgh van den Born, Arthur A.B. Bergen, Ralph J. Florijn, Anneke I. den Hollander, Caroline C W Klaver, Alberta A H J Thiadens, Gyan G. Soerjoesing

المساهمون: Ophthalmology, Pathology, Other departments, ANS - Amsterdam Neuroscience, Human Genetics, Netherlands Institute for Neuroscience (NIN)

المصدر: Graefes Archive for Clinical and Experimental Ophthalmology, 249(10), 1527-1535. Springer-Verlag
Graefe's Archive for Clinical and Experimental Ophthalmology, 249, 1527-35
Graefe's Archive for Clinical and Experimental Ophthalmology
Graefe's Archive for Clinical and Experimental Ophthalmology, 249, 10, pp. 1527-35
Graefe s archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 249(10), 1527-1535. Springer Verlag
Graefe's Archives of Clinical and Experimental Ophthalmology, 249, 1527-1535. Springer Verlag GmbH

مصطلحات موضوعية: Adult, Male, Time Factors, Novel mutation, genetic structures, Dark Adaptation, Biology, medicine.disease_cause, Polymerase Chain Reaction, Cellular and Molecular Neuroscience, Dna genetics, Cone dystrophy, Clinical course, ORF15, Retinal Rod Photoreceptor Cells, medicine, Electroretinography, Genetics, Humans, Genetic Predisposition to Disease, Eye Proteins, Gene, Mutation, medicine.diagnostic_test, Genetic Diseases, X-Linked, DNA, Middle Aged, medicine.disease, Prognosis, Phenotype, Sensory Systems, eye diseases, Pedigree, Rod Photoreceptors, Ophthalmology, ERG, Female, sense organs, RPGR gene, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Retinitis Pigmentosa, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec1432023a718bd29db75fabb4cafc35
https://pure.eur.nl/en/publications/ad00c173-6993-4d42-9465-f2cbfc22f5f7

المؤلفون: 50572955, 80738005, Ogino, Ken, Oishi, Maho, Oishi, Akio, Morooka, Satoshi, Sugahara, Masako, Gotoh, Norimoto, Kurimoto, Masafumi, Yoshimura, Nagahisa

مصطلحات الفهرس: Radial pattern, RPGR gene, Wide-field fundus autofluorescence, X-linked retinitis pigmentosa, journal article

URL: http://hdl.handle.net/2433/215066
10.2147/OPTH.S89371