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المؤلفون: Kathleen A. Williamson, Joseph A. Marsh, Gabriele Gillessen-Kaesbach, Simon Bodek, H Nikki Hall, Shane McKee, Patrick Edery, Liusaidh J Owen, Dragana Josifova, Françoise Meire, Jane A. Hurst, Joke B. G. M. Verheij, G G W Adams, Richard Fisher, Veronica van Heyningen, Benjamin J Livesey, David R. FitzPatrick, Charlotte Reiff, Bruce Castle, Edward S. Tobias, Birgit Lorenz, Alexander T Deng, Isabel M. Hanson, Michael P. Clarke, Marjolaine Willems, Anthony T. Moore, Jay E. Self, Michael W. Parker, Denise Williams, Elise Heon, Patrick Calvas
المصدر: Williamson, K, Hall, H N, Owen, L, Livesey, B, Hanson, I, Adams, G G W, Bodek, S, Calvas, P, Castle, B, Clarke, M, Deng, A T, Edery, P, Fisher, R, Gillessen-Kaesbach, G, Héon, E, Hurst, J, Josifova, D, Lorenz, B, McKee, S, Meire, F, Moore, A T, Parker, M, Reiff, C, Self, J, Tobias, E S, Verheij, J B G M, Willems, M, Williams, D, Van Heyningen, V, Marsh, J A & FitzPatrick, D R 2019, ' Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0685-9Test
Genetics in Medicine
Genetics in medicineمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Génétique clinique, Adolescent, PAX6 Transcription Factor, Mutation, Missense, 030105 genetics & heredity, Biology, Microphthalmia, Article, Cohort Studies, Young Adult, 03 medical and health sciences, medicine, Humans, Microphthalmos, Missense mutation, Genetic Predisposition to Disease, Eye Abnormalities, Child, protein destabilization, Genetics (clinical), Genetics, Coloboma, Binding Sites, Anophthalmia, Infant, missense variant, medicine.disease, eye diseases, Pedigree, PAX6, 3. Good health, DNA-Binding Proteins, paired domain, 030104 developmental biology, microphthalmia, Protein destabilization, Aniridia, Child, Preschool, Female, sense organs, Haploinsufficiency
وصف الملف: application/pdf; text; 1 full-text file(s): application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444e2433a7826bd8fdab584eb7721334Test
https://www.pure.ed.ac.uk/ws/files/120428082/s41436_019_0685_9.pdfTest -
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المؤلفون: Isabel M. Hanson, Kathleen A. Williamson, Simon Shorvon, Veronica van Heyningen, Samantha L. Free, Anthony T. Moore, Sanjay M. Sisodiya, Tejal N. Mitchell, Amanda J. Churchill, John M. Stevens
المصدر: Annals of Neurology. 53:658-663
مصطلحات موضوعية: Adult, Male, endocrine system, Pathology, medicine.medical_specialty, Adolescent, PAX6 Transcription Factor, DNA Mutational Analysis, Unilateral polymicrogyria, medicine.disease_cause, Pineal Gland, Pineal gland, Epilepsy, medicine, Polymicrogyria, Humans, Paired Box Transcription Factors, Point Mutation, Abnormalities, Multiple, Eye Proteins, Aged, Homeodomain Proteins, Mutation, business.industry, Brain, Human brain, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Repressor Proteins, medicine.anatomical_structure, Neurology, Cerebral cortex, Female, Neurology (clinical), PAX6, business, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a27d62b8af5c40662ad37d4e114ae61Test
https://doi.org/10.1002/ana.10576Test -
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المؤلفون: Veronica van Heyningen, Brian Kendall, Anthony T. Moore, Kathleen A. Williamson, Samantha L. Free, John M. Stevens, Tejal N. Mitchell, Sanjay M. Sisodiya, Simon Shorvon, Isabel M. Hanson, Catherine Willis
المصدر: Nature Genetics. 28:214-216
مصطلحات موضوعية: Adult, Male, Telencephalon, congenital, hereditary, and neonatal diseases and abnormalities, PAX6 Transcription Factor, Central nervous system, Anterior commissure, Biology, Nervous System Malformations, Olfaction Disorders, Genetics, medicine, Humans, Paired Box Transcription Factors, Eye Proteins, Aniridia, Homeodomain Proteins, medicine.diagnostic_test, Cerebrum, Magnetic resonance imaging, Anatomy, Middle Aged, medicine.disease, Magnetic Resonance Imaging, eye diseases, Hypoplasia, Repressor Proteins, medicine.anatomical_structure, Female, sense organs, PAX6, Haploinsufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3708b23aca8e6f26f5462d167caf2943Test
https://doi.org/10.1038/90042Test -
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المؤلفون: Saima Aijaz, Brian J. Clark, Isabel M. Hanson, Robert Tregidgo, Jennifer Allen, Veronica van Heyningen
المصدر: Genomics. 86(1)
مصطلحات موضوعية: Adult, IDH1, Genomics, Nerve Tissue Proteins, Computational biology, Biology, Eye, Retina, Fetus, Gene expression, Genetics, Humans, RNA, Messenger, Eye Proteins, Gene, Transcription factor, In Situ Hybridization, Homeodomain Proteins, Cadherin, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Profiling, Gene Expression Regulation, Developmental, Cadherins, Immunohistochemistry, Isocitrate Dehydrogenase, Real-time polymerase chain reaction, Isocitrate dehydrogenase, Trans-Activators, sense organs, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7703d5953ca9976f0afc11360b0bbb16Test
https://pubmed.ncbi.nlm.nih.gov/15953543Test -
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المؤلفون: Samantha L. Free, Sanjay M. Sisodiya, Anthony T. Moore, Pamela J. Thompson, K. A. Williamson, Isabel M. Hanson, Veronica van Heyningen, Tejal N. Mitchell
المصدر: Neurology. 62(7)
مصطلحات موضوعية: Adult, Male, Adolescent, PAX6 Transcription Factor, Anterior commissure, Gene mutation, Neuropsychological Tests, Corpus callosum, Nervous System Malformations, Corpus Callosum, Cognition, medicine, Humans, Paired Box Transcription Factors, Eye Proteins, Homeodomain Proteins, Working memory, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Repressor Proteins, Memory, Short-Term, Iris Diseases, Agenesis, Mutation, Female, Neurology (clinical), PAX6, Abnormality, Psychology, Cognition Disorders, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94b5a5bb3f214920acea0f4843496ff9Test
https://pubmed.ncbi.nlm.nih.gov/15079031Test -
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المؤلفون: A. Taylor, P. W. Teague, Isabel M. Hanson, Ian Frampton, E. Simonoff, Isobel Heyman, Veronica van Heyningen
المصدر: Europe PubMed Central
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Heterozygote, Adolescent, PAX6 Transcription Factor, Polymerase Chain Reaction, Loss of heterozygosity, Mice, Cognition, Genetics, medicine, Animals, Humans, Paired Box Transcription Factors, Psychiatry, Child, Eye Proteins, Gene, Aniridia, Biological Psychiatry, Genetics (clinical), Polymorphism, Single-Stranded Conformational, Aged, Body Patterning, Homeodomain Proteins, Base Sequence, Mental Disorders, Chromosome Mapping, Exons, Phenotype, eye diseases, Introns, Pedigree, DNA-Binding Proteins, Repressor Proteins, Psychiatry and Mental health, Frontal lobe, Mutation (genetic algorithm), Forebrain, Mutation, Eye development, Female, sense organs, PAX6, Lod Score, Psychology, Cognition Disorders, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28e5070019cd8de12dfd1899a2eed8e1Test
https://pubmed.ncbi.nlm.nih.gov/10412187Test -
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المؤلفون: Isabel M. Hanson, Kathleen A. Williamson, Veronica van Heyningen, Danny Morrison, Richard Collin, Saima Aijaz, Brian J. Clark, Nicola K. Ragge, David R. FitzPatrick, Alison Brown, Andrea Christoforou
المصدر: Investigative Opthalmology & Visual Science. 45:3871
مصطلحات موضوعية: Adult, DNA Mutational Analysis, Single-nucleotide polymorphism, Biology, medicine.disease_cause, Polymerase Chain Reaction, Microphthalmia, Gene duplication, Genotype, medicine, Humans, Microphthalmos, Eye Proteins, Chromatography, High Pressure Liquid, Homeodomain Proteins, Genetics, Coloboma, Mutation, Polymorphism, Genetic, Anophthalmia, Gene Amplification, Anophthalmos, Exons, Sequence Analysis, DNA, medicine.disease, Molecular biology, eye diseases, genomic DNA, Trans-Activators, sense organs
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcf1b4a61609fcc989a69b721528ae97Test
https://doi.org/10.1167/iovs.04-0641Test