نتائج البحث - "usher syndrome"

المصدر: The British Journal of Ophthalmology
Gao, F-J, Wang, D-D, Chen, F, Sun, H-X, Hu, F-Y, Xu, P, Li, J, Liu, W, Qi, Y-H, Li, W, Wang, M, Zhang, S, Xu, G-Z, Chang, Q & Wu, J-H 2021, ' Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease ', British Journal of Ophthalmology, vol. 105, no. 1, pp. 87-92 . https://doi.org/10.1136/bjophthalmol-2020-315878Test

مصطلحات موضوعية: 0301 basic medicine, Male, retina, Usher syndrome, Visual Acuity, Disease, 0302 clinical medicine, Gene Frequency, USHER-SYNDROME, Genotype, Prevalence, Missense mutation, genetics, Child, Aged, 80 and over, Extracellular Matrix Proteins, High-Throughput Nucleotide Sequencing, Clinical Science, Middle Aged, Phenotype, Sensory Systems, Pedigree, Child, Preschool, Cohort, Female, Usher Syndromes, Retinitis Pigmentosa, Tomography, Optical Coherence, Adult, medicine.medical_specialty, China, Adolescent, Mutation, Missense, Slit Lamp Microscopy, 03 medical and health sciences, Cellular and Molecular Neuroscience, Asian People, Internal medicine, Retinitis pigmentosa, SYNDROME TYPE IIA, medicine, otorhinolaryngologic diseases, Humans, Gene, Genetic Association Studies, Aged, business.industry, medicine.disease, Ophthalmology, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, Visual Field Tests, Visual Fields, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73b8c614ffbc880a9f98c370e100950bTest
http://europepmc.org/articles/PMC7788223Test

7

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush

المؤلفون: José-Alain Sahel, Saddek Mohand-Said, Isabelle Audo, Crystel Bonnet, Eberhart Zrenner, Marko Hawlina, Anne Kurtenbach, Francesca Simonelli, Ditta Zobor, Christine Petit, Katarina Stingl, Francesco Testa, Ana Fakin

المساهمون: University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Institut de l'Audition [Paris] (IDA), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Université Paris Cité (UPCité), Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Università degli studi della Campania 'Luigi Vanvitelli' = University of the Study of Campania Luigi Vanvitelli, Hôpital de la Fondation Ophtalmologique Adolphe de Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE), Collège de France (CdF (institution)), This work was supported by the European Union Seventh Framework Programme under the grant agreement HEALTH-F2-2010-242013 (TREATRUSH), the Slovenian Research Agency (grant ARRS J3-1750), and the Tistou and Charlotte Kerstan Foundation, Tübingen., European Project: 242013,EC:FP7:HEALTH,FP7-HEALTH-2009-single-stage,TREATRUSH(2010), HAL-SU, Gestionnaire, Fighting blindness of Usher syndrome: diagnosis, pathogenesis and retinal treatment (TreatRetUsher) - TREATRUSH - - EC:FP7:HEALTH2010-02-01 - 2014-01-31 - 242013 - VALID, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Paris (UP), Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Università degli studi della Campania 'Luigi Vanvitelli', Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, 2021, 22 (19), pp.10352. ⟨10.3390/ijms221910352⟩
Volume 22
Issue 19
International Journal of Molecular Sciences, MDPI, 2021, 22 (19), pp.10352. ⟨10.3390/ijms221910352⟩
International Journal of Molecular Sciences, Vol 22, Iss 10352, p 10352 (2021)

مصطلحات موضوعية: Retinal degeneration, Male, Visual acuity, genetic structures, Usher syndrome, Receptors, G-Protein-Coupled, USH2A, 0302 clinical medicine, Loss of Function Mutation, Biology (General), 10. No inequality, Child, Spectroscopy, Aged, 80 and over, 0303 health sciences, Extracellular Matrix Proteins, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, fundus autofluorescence, hyperautofluorescent ring, VLGR1, General Medicine, Middle Aged, Computer Science Applications, Chemistry, Exact test, Child, Preschool, Usher syndrome (USH), Female, medicine.symptom, Usher Syndromes, MASS1, Tomography, Optical Coherence, Retinopathy, Adult, medicine.medical_specialty, GPR98, Adolescent, QH301-705.5, Catalysis, Nyctalopia, Article, ADGRV1, Inorganic Chemistry, 03 medical and health sciences, Ophthalmology, retinitis pigmentosa, Retinitis pigmentosa, otorhinolaryngologic diseases, medicine, Humans, Physical and Theoretical Chemistry, QD1-999, Molecular Biology, Macular edema, 030304 developmental biology, Aged, adhesion G protein-coupled receptor V1, business.industry, Organic Chemistry, Infant, medicine.disease, eye diseases, 030221 ophthalmology & optometry, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c31a995f3c2daf71b0999ec32011bef1Test
http://europepmc.org/articles/PMC8509029Test

8

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report

المؤلفون: Su Ling Young, Chloe M. Stanton, Benjamin J. Livesey, Joseph A. Marsh, Peter D. Cackett

المصدر: Young, S L, Stanton, C M, Livesey, B J, Marsh, J A & Cackett, P D 2022, ' Novel biallelic USH2A variants in a patient with usher syndrome type IIA-a case report ', BMC Ophthalmology, vol. 22, no. 1, 140 . https://doi.org/10.1186/s12886-022-02353-7Test

مصطلحات موضوعية: Extracellular Matrix Proteins, Novel mutation, Adolescent, Mutation, Missense, General Medicine, Middle Aged, Usher syndrome type IIA, eye diseases, Ophthalmology, USH2A, Codon, Nonsense, Mutation, Case report, otorhinolaryngologic diseases, Humans, Pathogenicity, Female, Inherited retinal disease, Usher Syndromes

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66dd35c56103f8aa87e1e244b5d5327eTest
https://www.pure.ed.ac.uk/ws/files/307399407/s12886_022_02353_7.pdfTest

9

Molecular inversion probe-based sequencing of ush2a exons and splice sites as a cost-effective screening tool in ush2 and arrp cases

المساهمون: Human Genetics, ANS - Complex Trait Genetics, AR&D - Amsterdam Reproduction & Development

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 6419, p 6419 (2021)
International Journal of Molecular Sciences, 22
International Journal of Molecular Sciences
Volume 22
Issue 12
International journal of molecular sciences, 22(12):6419. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences, 22, 12

مصطلحات موضوعية: 0301 basic medicine, Cost-Benefit Analysis, Usher syndrome, 030105 genetics & heredity, Molecular Inversion Probe, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], USH2A, Exon, Copy-number variation, Biology (General), Spectroscopy, Genetics, Extracellular Matrix Proteins, medicine.diagnostic_test, Molecular inversion probes (MIPs), Exons, General Medicine, Usher syndrome type IIa, Computer Science Applications, Retinitis pigmentosa, Chemistry, Usher Syndromes, DNA Copy Number Variations, QH301-705.5, Genetic counseling, Biology, Polymorphism, Single Nucleotide, Article, Catalysis, Inorganic Chemistry, 03 medical and health sciences, medicine, otorhinolaryngologic diseases, Humans, Physical and Theoretical Chemistry, QD1-999, Molecular Biology, Genetic testing, Whole genome sequencing, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Base Sequence, Organic Chemistry, Sequence Analysis, DNA, medicine.disease, eye diseases, 030104 developmental biology, Molecular Probes, RNA Splice Sites, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Gene Deletion

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8050994d5c9d1a0d1a69ff4a9c32915bTest
http://www.scopus.com/inward/record.url?scp=85107858756&partnerID=8YFLogxKTest

10

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report

المؤلفون: Dongjun Xing, Linni Wang, Rongguo Yu, Zhiqing Li, Huaiyu Zhou, Xiaorong Li, Liying Hu

المصدر: BMC Ophthalmology, Vol 20, Iss 1, Pp 1-6 (2020)
BMC Ophthalmology

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, China, genetic structures, Usher syndrome, DNA Mutational Analysis, Gene mutation, Genetic analysis, Nyctalopia, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Asian People, lcsh:Ophthalmology, Genotype, Case report, medicine, otorhinolaryngologic diseases, Humans, Exome, Gene, Exome sequencing, Extracellular Matrix Proteins, business.industry, General Medicine, medicine.disease, Phenotype, eye diseases, Pedigree, Ophthalmology, 030104 developmental biology, lcsh:RE1-994, Mutation, 030221 ophthalmology & optometry, medicine.symptom, business, Usher Syndromes, Targeted exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd611fb1a6225641e2bb29ce8646fdb4Test
https://doaj.org/article/a439802bc40f48abaf7153027b1c43ffTest

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