المؤلفون: K. Bailey Freund, Mrinali P. Gupta, Scott E. Brodie

المصدر: RETINAL Cases & Brief Reports. 15:527-531

مصطلحات موضوعية: medicine.medical_specialty, genetic structures, Interphotoreceptor matrix, 01 natural sciences, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Foveal, Ophthalmology, Medicine, 0101 mathematics, Retina, business.industry, Interphotoreceptor matrix proteoglycan 1, Blind spot, 010102 general mathematics, Dystrophy, Retinal, General Medicine, eye diseases, medicine.anatomical_structure, chemistry, Mutation (genetic algorithm), 030221 ophthalmology & optometry, sense organs, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94b57cce4995b11a0266ba18cd051c77Test
https://doi.org/10.1097/icb.0000000000000843Test

المؤلفون: Jyh Hong Chen, Kuang-Mao Chiang, Yu Jen Liang, Wei Hsian Yin, Wen-Harn Pan, Sheng Hsiung Sheu, Chia Min Chung, Yuan-Tsong Chen, Hsin Bang Leu, Chih Tai Ting, Hung Yun Ho, Yi Lin Wu, Jer-Yuarn Wu, Shing Jong Lin, Ting Yu Chiu, Jaw Wen Chen, Teng-Nan Lin, Chin Luan Chen, Wei-Chuan Tsai, Hsin-Chou Yang, Cathy S.J. Fann, Tsung-Hsien Lin

المصدر: PLoS ONE, Vol 4, Iss 5, p e5459 (2009)
PLoS ONE

مصطلحات موضوعية: Adult, Male, Cation binding, Genotype, Science, Taiwan, Genome-wide association study, Single-nucleotide polymorphism, Computer Science/Applications, Genetics and Genomics/Complex Traits, Biology, Polymorphism, Single Nucleotide, Cardiovascular Disorders/Hypertension, Young Adult, 03 medical and health sciences, Asian People, Gene mapping, Guanine Nucleotide Exchange Factors, Humans, SNP, Age of Onset, Eye Proteins, 030304 developmental biology, Genetics, Extracellular Matrix Proteins, 0303 health sciences, Multidisciplinary, Genome, Human, Interphotoreceptor matrix proteoglycan 1, 030305 genetics & heredity, Haplotype, Chromosome Mapping, Angiotensin II, 3. Good health, Case-Control Studies, Chromosomes, Human, Pair 2, Hypertension, Medicine, Female, Proteoglycans, ras Guanine Nucleotide Exchange Factors, Public Health and Epidemiology/Epidemiology, Genome-Wide Association Study, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5289f1f04fb3e9ae6b66094bc4501e4eTest
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/19421330/pdf/?tool=EBITest

المؤلفون: Bernhard H. F. Weber, I. H. Maumenee, David M. Hunt, Ute Felbor, Rosemary E. Kelsell, Andrea Gehrig

المصدر: Journal of medical genetics. 35(8)

مصطلحات موضوعية: Retinal degeneration, Adult, Male, DNA Mutational Analysis, Biology, Interphotoreceptor matrix, Macular Degeneration, Retinitis pigmentosa, Genetics, medicine, Humans, Eye Proteins, Genetics (clinical), Genes, Dominant, Glycoproteins, Extracellular Matrix Proteins, Interphotoreceptor matrix proteoglycan 1, Progressive bifocal chorioretinal atrophy, Retinal Degeneration, Dystrophy, Chromosome Mapping, Macular dystrophy, medicine.disease, eye diseases, Pedigree, Chromosomes, Human, Pair 6, Female, Proteoglycans, Retinal Dystrophies, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d6c5d8423f79ab24202de104e124842Test
https://pubmed.ncbi.nlm.nih.gov/9719369Test

المؤلفون: M. Köhler, Andrea Gehrig, Bernhard H. F. Weber, Christian G. Sauer, M. Schmid, Andreas Marquardt, Ute Felbor

المصدر: Europe PubMed Central

مصطلحات موضوعية: DNA, Complementary, Databases, Factual, Molecular Sequence Data, Gene Expression, Interphotoreceptor matrix, Retina, Extracellular matrix, Cerebellum, Genetics, medicine, Humans, Photoreceptor Cells, Eye Proteins, Molecular Biology, Lung, Genetics (clinical), In Situ Hybridization, Fluorescence, Genomic organization, Glycoproteins, Extracellular Matrix Proteins, Retinal pigment epithelium, biology, Interphotoreceptor matrix proteoglycan 1, Alternative splicing, Chromosome Mapping, Exons, Molecular biology, eye diseases, Introns, Extracellular Matrix, Alternative Splicing, medicine.anatomical_structure, Proteoglycan, Genes, biology.protein, RNA, Chromosomes, Human, Pair 6, Proteoglycans, sense organs

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87af0f8de75b1f99c3801223c3a4c20aTest
https://pubmed.ncbi.nlm.nih.gov/9691169Test

المؤلفون: Martijn H. Kemperman, H. Kremer, August F. Deutman, van Lith-Verhoeven Jj, F.P.M. Cremers, van den Helm B, H.M.A. Brink, de Jong Wh, Carel B. Hoyng

المصدر: Investigative Ophthalmology and Visual Science, 45, 1, pp. 30-5
Investigative Ophthalmology and Visual Science, 45, 30-5

مصطلحات موضوعية: Adult, Male, Candidate gene, Adolescent, Genetic Linkage, DNA Mutational Analysis, Visual Acuity, Locus (genetics), Biology, Macular Degeneration, Benign concentric annular macular dystrophy, Genetic linkage, Electroretinography, medicine, Humans, Point Mutation, Neurosensory disorders [UMCN 3.3], Eye Proteins, Aged, Glycoproteins, Genetics, Extracellular Matrix Proteins, Interphotoreceptor matrix proteoglycan 1, Chromosome Mapping, Dystrophy, Middle Aged, Macular dystrophy, medicine.disease, Pedigree, Stargardt disease, Amino Acid Substitution, Chromosomes, Human, Pair 6, Female, Proteoglycans, Lod Score, Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52309222e10be81d9d9358b0463eb8adTest
https://doi.org/10.1167/iovs.03-0392Test

المصدر: Acta Biomaterialia.

مصطلحات موضوعية: 0301 basic medicine, Interphotoreceptor matrix proteoglycan 1, Extracellular matrix component, Biomedical Engineering, General Medicine, Biology, Interphotoreceptor matrix, Biochemistry, eye diseases, Cell biology, Biomaterials, Fibronectin, Extracellular matrix, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, biology.protein, Versican, sense organs, Induced pluripotent stem cell, Brevican, Molecular Biology, 030217 neurology & neurosurgery, Biotechnology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::889aadf208002f07c66a1d383778a563Test