المؤلفون: Matthew D. Benson, MD, Kimberly M. Papp, BSc, Geoffrey A. Casey, BSc(EE), BSc(MolBiol), Alina Radziwon, BSc, Chris D. St Laurent, BSc, Lance P. Doucette, PhD, Ian M. MacDonald, MD, CM

المصدر: Ophthalmology Science, Vol 1, Iss 2, Pp 100028- (2021)

مصطلحات موضوعية: Hearing loss, Peroxisomal biogenesis disorders, Peroxisome, PEX6, Retinal degeneration, Usher syndrome, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666914521000269; https://doaj.org/toc/2666-9145

URL الوصول: https://doaj.org/article/53a69df201ae4fe7b07ce21f724d1d22

المؤلفون: Alina Radziwon, Stephanie C. Hoang, Ian M. MacDonald, Yi Zhai, Nicole C. L. Noel, Manlong Xu, Oana Caluseriu, Lance P. Doucette

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: Adult, Male, Adolescent, Retinoschisis, Developmental Disabilities, Retinal Drusen, Disease, Drusen, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Cataracts, parasitic diseases, Exome Sequencing, medicine, Genetics, Humans, Child, Gene, Genetics (clinical), Exome sequencing, 030304 developmental biology, Aged, 0303 health sciences, Genetic heterogeneity, Syndrome, Middle Aged, medicine.disease, Pedigree, Mutation, Next-generation sequencing, Female, 030217 neurology & neurosurgery, Retinal Dystrophies, Low Density Lipoprotein Receptor-Related Protein-1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f402d6ba85165f4e1e92ba7dc4426a31
http://europepmc.org/articles/PMC8385108

المؤلفون: Yi Zhai, Manlong Xu, Alina Radziwon, Ioannis S. Dimopoulos, Paul Crichton, Rachel Mah, Robert E. MacLaren, Rizwan Somani, Matthew T. Tennant, Ian M. MacDonald

المصدر: American journal of ophthalmology.

مصطلحات موضوعية: Ophthalmology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c15ac664624085a95495ec2085f5440f
https://pubmed.ncbi.nlm.nih.gov/36581191

المؤلفون: Kaylie Webb-Jones, Ian M. MacDonald, Gavin Arno, Emma L. Baple, Alina Radziwon, Andrew R. Webster, Ellen M. McDonagh, David G. Birch, Dianna K. Wheaton

المصدر: Human Mutation. 38:704-715

مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, Promoter, Biology, medicine.disease_cause, medicine.disease, Choroideremia, Gene product, RAB ESCORT PROTEIN 1, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030221 ophthalmology & optometry, medicine, biology.protein, Coding region, Luciferase, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f85b837e373820796b46b0e199af31cf
https://doi.org/10.1002/humu.23212

المؤلفون: Ian M. MacDonald, Natalia Binczyk, Alina Radziwon, Ioannis Dimopoulos

المصدر: Hereditary Chorioretinal Disorders ISBN: 9789811504136

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::387e4d6e29d8c4dfc207156cc29c0df6
https://doi.org/10.1007/978-981-15-0414-3_8

المؤلفون: Jonathan J. Dennis, Alina Radziwon, Carly M. Davis, Fatima Kamal

المصدر: Methods in Molecular Biology ISBN: 9781493989393

مصطلحات موضوعية: 0303 health sciences, Innate immune system, Lemna minor, biology, 030306 microbiology, Host (biology), Virulence, biology.organism_classification, Microbiology, Pathogenesis, 03 medical and health sciences, Medicago sativa, Gene, Bacteria, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::76ce75a9afc8ca3e86d249e2d14cfcfd
https://doi.org/10.1007/978-1-4939-8940-9_16

المؤلفون: Fatima, Kamal, Alina, Radziwon, Carly M, Davis, Jonathan J, Dennis

المصدر: Methods in molecular biology (Clifton, N.J.). 1898

مصطلحات موضوعية: Bacteria, Virulence, Animals, Araceae, Humans, Bacterial Infections, Medicago sativa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::76a9d00e137aff5b856672eccbf3f5ca
https://pubmed.ncbi.nlm.nih.gov/30570734

المؤلفون: Woo Jung Cho, Alina Radziwon, Miyoung Suh, Ian M. MacDonald, Artur J. Szkotak

المصدر: Investigative ophthalmologyvisual science. 59(11)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Systemic disease, medicine.medical_specialty, Adolescent, Blood lipids, medicine.disease_cause, Choroideremia, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Microscopy, Electron, Transmission, Internal medicine, medicine, Humans, Child, Phospholipids, Adaptor Proteins, Signal Transducing, Aged, chemistry.chemical_classification, Mutation, Chemistry, Erythrocyte Membrane, Fatty acid, General Medicine, Middle Aged, medicine.disease, Peripheral, 030104 developmental biology, Endocrinology, Erythrocyte Inclusions, 030221 ophthalmology & optometry, Microscopy, Electron, Scanning, Crystallization, Intracellular, Nervonic acid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1273f07b232bccb979efb0aad6a4e0a
https://pubmed.ncbi.nlm.nih.gov/30193321

المؤلفون: Ioannis S. Dimopoulos, Alina Radziwon, Chris D. St. Laurent, Ian M. MacDonald

المصدر: Current opinion in ophthalmology. 28(5)

مصطلحات موضوعية: 0301 basic medicine, General Medicine, Genetic Therapy, Retinal Pigment Epithelium, 03 medical and health sciences, Ophthalmology, 030104 developmental biology, 0302 clinical medicine, Phenotype, Mutation, 030221 ophthalmology & optometry, Humans, Choroideremia, Adaptor Proteins, Signal Transducing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52e784b7036304a9c28012bb394daee6
https://pubmed.ncbi.nlm.nih.gov/28520608

المؤلفون: Alina, Radziwon, Gavin, Arno, Dianna, K Wheaton, Ellen M, McDonagh, Emma L, Baple, Kaylie, Webb-Jones, David, G Birch, Andrew R, Webster, Ian M, MacDonald

المصدر: Human mutation. 38(6)

مصطلحات موضوعية: Male, Mutation, Retinal Degeneration, Humans, Female, Genetic Diseases, X-Linked, Genetic Predisposition to Disease, Promoter Regions, Genetic, Choroideremia, Retina, Adaptor Proteins, Signal Transducing, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6519115e14b9ed1b8768c55d10f7d8b8
https://pubmed.ncbi.nlm.nih.gov/28271586

المؤلفون: Alina Radziwon, Shirley Chiang, Tanya Burch, Runtao He, Todd Cutts, Xuguang Li, Craig Brusnyk, Gary Van Domselaar, Jessica Piper, Megan R. Edwards, Jingxin Cao, Kevin Dick

المصدر: Molecular and Cellular Biochemistry. 333:221-232

مصطلحات موضوعية: Transcriptional Activation, medicine.medical_treatment, Amino Acid Motifs, Clinical Biochemistry, Receptors, Cytoplasmic and Nuclear, Estrogen receptor, Biology, Nuclear Receptor Coactivator 3, Cell Line, Tumor, Two-Hybrid System Techniques, Protein Interaction Mapping, medicine, Humans, Receptor, Molecular Biology, Cell Biology, General Medicine, Thymine DNA Glycosylase, Nuclear receptor coactivator 1, Steroid hormone, Nuclear receptor, Biochemistry, Nuclear receptor coactivator 3, Mutagenesis, Site-Directed, Nuclear receptor coactivator 2, Thymine-DNA glycosylase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::756f15ee6798d1149e199df3d05396b3
https://doi.org/10.1007/s11010-009-0223-1

المؤلفون: Likui, Zhang, Alina, Radziwon, Linda J, Reha-Krantz

المصدر: Methods in molecular biology (Clifton, N.J.). 1163

مصطلحات موضوعية: Phenotype, Mutagenesis, DNA Mutational Analysis, Point Mutation, Saccharomyces cerevisiae, Selection, Genetic, Molecular Biology, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::18b8c9eb69cbabb91a6c74bf61589ff2
https://pubmed.ncbi.nlm.nih.gov/24841302

المؤلفون: Alina Radziwon, Linda J. Reha-Krantz, Likui Zhang

المصدر: Methods in Molecular Biology ISBN: 9781493907984

مصطلحات موضوعية: Insertional mutagenesis, Gene product, Point mutation, DNA Mutational Analysis, Mutant, Mutagenesis (molecular biology technique), Computational biology, Biology, Gene, Loss function

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7196682dec0c5ae61bb0c41bf06d74bb
https://doi.org/10.1007/978-1-4939-0799-1_8

المؤلفون: Robert E MacLaren, Alina Radziwon, Matthew T.S. Tennant, Miguel C. Seabra, Stephanie C. Hoang, Ioannis S. Dimopoulos, Natalia M. Binczyk, Ian M. MacDonald, Rizwan Somani

المصدر: American Journal of Ophthalmology

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Visual acuity, genetic structures, Genetic enhancement, Genetic Vectors, Visual Acuity, Phases of clinical research, Gene Expression, Retinal Pigment Epithelium, Choroideremia, Alberta, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Parvovirinae, Ophthalmology, medicine, Humans, Prospective Studies, Adverse effect, Adaptor Proteins, Signal Transducing, Retinal pigment epithelium, business.industry, Optical Imaging, Retinal, Genetic Therapy, Dependovirus, medicine.disease, eye diseases, 030104 developmental biology, medicine.anatomical_structure, chemistry, 030221 ophthalmology & optometry, Visual Field Tests, sense organs, medicine.symptom, Injections, Intraocular, business, Microperimetry, Tomography, Optical Coherence, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddbc71be775bac491ac9e55e9c00cad6