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1دورية أكاديمية
المؤلفون: Ravikanth Metlapally, Pedro Gonzalez, Felicia A Hawthorne, Khanh-Nhat Tran-Viet, Christine F Wildsoet, Terri L Young
المصدر: PLoS ONE, Vol 8, Iss 10, p e78984 (2013)
وصف الملف: electronic resource
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المؤلفون: Sebastian Maurer-Stroh, Steve Rozen, Terri L. Young, Candice Ho, Caldwell Powell, Khanh-Nhat Tran-Viet, Seang-Mei Saw, Tammy L. Yanovitch, Thomas Klemm, Georg Schneider, Vincent Soler, Ravikanth Metlapally, Liang Goh, Veluchamy A. Barathi, Vachiranee Limviphuvadh, Yi-Ju Li, Erica B. Nading
المصدر: The American Journal of Human Genetics. 92:820-826
مصطلحات موضوعية: genetic structures, Chromosomes, Human, Pair 22, Molecular Sequence Data, Glaucoma, Biology, White People, Mitochondrial Proteins, Mice, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Report, Myopia, Genetics, medicine, Animals, Humans, Point Mutation, Exome, Genetic Predisposition to Disease, Genetics(clinical), RNA, Messenger, Retinal thinning, Genetics (clinical), Exome sequencing, Genes, Dominant, 030304 developmental biology, 0303 health sciences, Retina, Retinal pigment epithelium, Base Sequence, Retinal detachment, Retinal, Sequence Analysis, DNA, medicine.disease, Immunohistochemistry, United States, eye diseases, medicine.anatomical_structure, Gene Expression Regulation, chemistry, Codon, Nonsense, 030221 ophthalmology & optometry, Maculopathy, sense organs, Carrier Proteins, Copper, Molecular Chaperones
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المؤلفون: Francesca Pasutto, Steve Rozen, Keri F. Allen, Terri L. Young, Shahrbanou Javadiyan, Tiger Zhou, Tomokazu Souma, Stuart W. Tompson, Kathryn P. Burdon, Kristina N. Whisenhunt, Simone Finzi, Khanh Nhat Tran-Viet, Shinji Yamaguchi, David A. Mackey, Jing Jin, Dimitar N. Azmanov, Sing Hui Lim, Sebastian Maurer-Stroh, Bethany A. Kloss, Alex W. Hewitt, Jonathan B Ruddle, Janey L. Wiggs, Krishnakumar Kizhatil, Jamie E Craig, Benjamin R. Thomson, Emmanuelle Souzeau, Susan E. Quaggin, Luba Kalaydjieva, Simon W. M. John, Xiaorong Liu, Vachiranee Limviphuvadh, Lucia Mauri, Owen M. Siggs, Tammy L. Yanovitch, Liang Feng
المساهمون: School of Biological Sciences
المصدر: The Journal of clinical investigation. 126(7)
مصطلحات موضوعية: 0301 basic medicine, Pathology, genetic structures, Gene Dosage, Glaucoma, medicine.disease_cause, Ligands, Mice, Medicine, Missense mutation, Exome, Phosphorylation, Mice, Knockout, Mutation, biology, General Medicine, Angiopoietin receptor, Receptor, TIE-2, Cell biology, Pedigree, medicine.anatomical_structure, Phenotype, primary congenital glaucoma, Haploinsufficiency, Signal Transduction, Research Article, medicine.medical_specialty, CYP1B1, Mutation, Missense, Mice, Transgenic, 03 medical and health sciences, angiopoietin receptor TEK, Trabecular Meshwork, Animals, Humans, Loss function, Intraocular Pressure, Family Health, business.industry, medicine.disease, eye diseases, 030104 developmental biology, Gene Expression Regulation, biology.protein, Trabecular meshwork, sense organs, business, Angiopoietins
وصف الملف: application/pdf
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المؤلفون: David A. Mackey, James E. Elder, Meghan J Marino, Sue Crowe, Elizabeth St.Germain, Elias I. Traboulsi, Y Perdomo-Trujillo, Terri L. Young, Glen A. Gole, Valérie Pelletier, Erica B. Nading, Khanh-Nhat Tran-Viet, Pr Hélène Dollfus, Sandra E Staffieri, Michael Haybittel, Sing-Hui Lim
المصدر: Ophthalmic genetics. 35(1)
مصطلحات موضوعية: Male, Sequence analysis, Optic Disk, Optic disk, Biology, medicine.disease_cause, Polymerase Chain Reaction, Article, symbols.namesake, medicine, Basic Helix-Loop-Helix Transcription Factors, Humans, Eye Abnormalities, Gene, Genetics (clinical), Sanger sequencing, Genetics, Optic nerve hypoplasia, Mutation, Sequence Analysis, DNA, medicine.disease, Molecular biology, eye diseases, Ophthalmology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, symbols, Optic nerve, Female, sense organs, Optic disc
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المؤلفون: Stéphane Galiacy, Vincent Soler, Isabelle Creveaux, Natalie A. Afshari, Khanh-Nhat Tran-Viet, Pierre Fournié, Weihua Meng, Steven G. Rozen, Felicia Hawthorne, J.L. Arne, Myriam Cassagne, Elizabeth St.Germain, Terri L. Young, P Calvas, Bernadette Kantelip, Céline Guillaud, Vachiranee Limviphuvadh, François Malecaze, Thomas Klemm, Sebastian Maurer-Stroh, Cyrielle Suarez, Xiaoyan Luo
المساهمون: School of Biological Sciences, Bioinformatics Research Centre
المصدر: Journal of medical genetics. 50(4)
مصطلحات موضوعية: Proband, Adult, Male, Mutation, Missense, Corneal Keratocytes, NLR Proteins, Biology, Polymorphism, Single Nucleotide, Deep sequencing, Dyskeratosis Congenita, Article, Gene Frequency, Genetics, medicine, Missense mutation, Humans, Exome, Child, Genetics (clinical), Exome sequencing, Adaptor Proteins, Signal Transducing, Epithelium, Corneal, High-Throughput Nucleotide Sequencing, medicine.disease, Dyskeratosis, Science::Biological sciences [DRNTU], Pedigree, Hereditary Benign Intraepithelial Dyskeratosis, Female, Apoptosis Regulatory Proteins, Dyskeratosis congenita
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المؤلفون: Khanh-Nhat, Tran-Viet, Vincent, Soler, Valencia, Quiette, Caldwell, Powell, Tammy, Yanovitch, Ravikanth, Metlapally, Xiaoyan, Luo, Nicholas, Katsanis, Erica, Nading, Terri L, Young
المصدر: Molecular Vision
مصطلحات موضوعية: Adult, Male, DNA, Complementary, Adolescent, Base Sequence, Arthritis, Hearing Loss, Sensorineural, DNA Mutational Analysis, Molecular Sequence Data, Retinal Degeneration, Retinal Detachment, Pedigree, Phenotype, Versicans, Gene Expression Regulation, Mutation, Humans, Protein Isoforms, Family, Female, Connective Tissue Diseases, Collagen Type II, Aged, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e2f42565ac4c5bd957d457fc5f51813f
https://pubmed.ncbi.nlm.nih.gov/23592912 -
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المؤلفون: Khanh-Nhat, Tran-Viet, Elizabeth, St Germain, Vincent, Soler, Caldwell, Powell, Sing-Hui, Lim, Thomas, Klemm, Seang Mei, Saw, Terri L, Young
المصدر: Molecular Vision
مصطلحات موضوعية: Male, genetic structures, Ubiquitin-Protein Ligases, Molecular Sequence Data, Black People, Eye, Polymorphism, Single Nucleotide, White People, Cohort Studies, Gene Frequency, Myopia, Humans, Genetic Predisposition to Disease, Base Sequence, Zinc Fingers, Exons, Sequence Analysis, DNA, eye diseases, Introns, United States, Pedigree, Case-Control Studies, Trans-Activators, Female, sense organs, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::90af25e63b850297d7dc768c2b5dcd35
https://pubmed.ncbi.nlm.nih.gov/22539872 -
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المؤلفون: Sandrine Paget, Ravikanth Metlapally, Patrick Calvas, François Malecaze, David A. Mackey, Jeremy A. Guggenheim, Terri L. Young, Chang-Seok Ki, Diana Abbott, Yi-Ju Li, Thomas Rosenberg, Khanh-Nhat Tran-Viet
مصطلحات موضوعية: Adult, Oncology, medicine.medical_specialty, Candidate gene, Linkage disequilibrium, Internationality, genetic structures, Single-nucleotide polymorphism, Pedigree chart, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, White People, Cohort Studies, Young Adult, Gene Frequency, Internal medicine, Myopia, medicine, Humans, Genetic Predisposition to Disease, Insulin-Like Growth Factor I, Allele frequency, Aged, Genetic association, Genetics, Haplotype, Articles, Middle Aged, eye diseases, Europe, Phenotype, Multiple comparisons problem, RE, sense organs
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9c1133c27f5006d9a75d6ca783783de
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المؤلفون: Toby Andrew, Grant W. Montgomery, Scott D. Gordon, Jonathan B Ruddle, Stuart MacGregor, Nicholas G. Martin, Alex W. Hewitt, Jamie E Craig, Pirro G. Hysi, Anjali K. Henders, Paul G. Sanfilippo, Terri L. Young, Francis Carbonaro, Christopher J Hammond, David A. Mackey, Tim D. Spector, Sonya L Bennett, Vikas Tah, Brian P. McEvoy, Khanh-Nhat Tran-Viet, Yi-Ju Li, Nadean L. Brown, Sarah E. Medland
المصدر: Human molecular genetics, vol 19, iss 13
Human Molecular Genetics
Human Molecular Genetics; Vol 19مصطلحات موضوعية: Optic disk, Twins, Genome-wide association study, Eye, Blindness, Genome, Medical and Health Sciences, 0302 clinical medicine, 80 and over, Basic Helix-Loop-Helix Transcription Factors, 2.1 Biological and endogenous factors, Aetiology, Child, Genetics (clinical), Aged, 80 and over, Genetics, Genetics & Heredity, 0303 health sciences, Association Studies Articles, General Medicine, Single Nucleotide, Middle Aged, Biological Sciences, Major gene, Child, Preschool, Adult, Adolescent, Optic Disk, Single-nucleotide polymorphism, and over, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, Clinical Research, SNP, Humans, Polymorphism, Preschool, Eye Disease and Disorders of Vision, Molecular Biology, Gene, 030304 developmental biology, Aged, Human Genome, Neurosciences, Australia, Membrane Proteins, Optic Nerve, United Kingdom, 030221 ophthalmology & optometry, Imputation (genetics), Genome-Wide Association Study
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594a57bef989b5f6bccae247af8fd642
https://escholarship.org/uc/item/294404qj -
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المؤلفون: Stephan Züchner, John L. Beyer, David C. Steffens, Melissa A Gottron, Viren D Patel, Danielle Brewington, Ranga Krishnan, Gaofeng Wang, Nicole Calakos, Khanh-Nhat Tran-Viet
المصدر: Journal of medical genetics. 47(9)
مصطلحات موضوعية: Molecular Sequence Data, Late onset, Neurological disorder, Biology, Article, Cell Line, otorhinolaryngologic diseases, Genetics, medicine, Missense mutation, Humans, Amino Acid Sequence, Age of Onset, Genetics (clinical), Dystonia, Inclusion Bodies, Focal dystonia, Middle Aged, medicine.disease, nervous system diseases, Amino Acid Substitution, Dystonic Disorders, Mutation (genetic algorithm), Mutation, Age of onset, Dystonic disorder, Molecular Chaperones
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