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المؤلفون: Sally Ann Lynch, R. Alex Henderson, Veronica van Heyningen, Isabel M. Hanson, Michael P. Clarke, Sanjay M. Sisodiya, David R. FitzPatrick, Kathy Williamson, Sally Cumming
المصدر: European Journal of Human Genetics. 15:898-901
مصطلحات موضوعية: Male, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Microcephaly, PAX6 Transcription Factor, Nonsense mutation, Microphthalmia, Gene interaction, Café au lait spot, Genetics, Humans, Microphthalmos, Paired Box Transcription Factors, Medicine, Missense mutation, Eye Proteins, Aniridia, Genetics (clinical), Homeodomain Proteins, Neurofibromin 1, Otx Transcription Factors, business.industry, medicine.disease, eye diseases, Pedigree, Repressor Proteins, Amino Acid Substitution, Child, Preschool, Female, sense organs, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55de2520bac727f573d312ea2472fc8eTest
https://doi.org/10.1038/sj.ejhg.5201826Test -
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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: Michael P. Clarke, James Love, Amanda J. Churchill, Tony Moore, Françoise Meire, Veronica van Heyningen, Isabel M. Hanson, Richard Axton
المصدر: Human Molecular Genetics. 8:165-172
مصطلحات موضوعية: Male, PAX6 Transcription Factor, media_common.quotation_subject, DNA Mutational Analysis, Molecular Sequence Data, Nonsense, Mutation, Missense, Biology, medicine.disease_cause, Cataract, Ectopia Lentis, Nystagmus, Pathologic, Genetics, medicine, Humans, Paired Box Transcription Factors, Missense mutation, Amino Acid Sequence, Eye Abnormalities, Eye Proteins, Aniridia, Molecular Biology, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), media_common, Family Health, Homeodomain Proteins, Mutation, Binding Sites, Sequence Homology, Amino Acid, General Medicine, medicine.disease, Phenotype, eye diseases, Pedigree, DNA-Binding Proteins, Repressor Proteins, Amino Acid Substitution, Mutation testing, Female, sense organs, PAX6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::333005a723e202b9db0319f2a36e9725Test
https://doi.org/10.1093/hmg/8.2.165Test -
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المصدر: Human Mutation. 12:128-134
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, PAX6 Transcription Factor, Biology, Polymerase Chain Reaction, Keratitis, Genetics, medicine, Humans, Paired Box Transcription Factors, Point Mutation, Lymphocytes, Eye Proteins, Frameshift Mutation, Gene, Cells, Cultured, Polymorphism, Single-Stranded Conformational, Genetics (clinical), DNA Primers, Sequence (medicine), Homeodomain Proteins, Blood Cells, Single-strand conformation polymorphism, Exons, Sequence Analysis, DNA, medicine.disease, eye diseases, Hypoplasia, DNA-Binding Proteins, Repressor Proteins, Phenotype, Aniridia, Mutation testing, Female, sense organs, PAX6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9100c0a2e9923f51ecd09a7e77d8d29dTest
https://doi.org/10.1002Test/(sici)1098-1004(1998)12:2<128::aid-humu8>3.0.co;2-n -
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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: Isabel M. Hanson, Simon T. Cooper
المصدر: BMC Genetics, Vol 6, Iss 1, p 43 (2005)
BMC Geneticsمصطلحات موضوعية: Cytoplasmic Dyneins, endocrine system, PAX6 Transcription Factor, Transcription, Genetic, lcsh:QH426-470, Ubiquitin-Protein Ligases, Plasma protein binding, Biology, medicine.disease_cause, Conserved sequence, Tripartite Motif Proteins, Homer Scaffolding Proteins, Two-Hybrid System Techniques, Genetics, medicine, Transcriptional regulation, Humans, Paired Box Transcription Factors, Eye Proteins, Amino Acid Sequence, Gene, Genetics (clinical), Conserved Sequence, Homeodomain Proteins, Neurons, Mutation, Dyneins, eye diseases, Repressor Proteins, lcsh:Genetics, PAX6, sense organs, Carrier Proteins, Protein Binding, Transcription Factors, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccd0a2f355b94badacad78ec8733b455Test
http://www.biomedcentral.com/1471-2156/6/43Test -
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المؤلفون: Ioanna Tzoulaki, Isabel M. Hanson, I. M. S. White
المصدر: BMC Genetics, Vol 6, Iss 1, p 27 (2005)
BMC Geneticsمصطلحات موضوعية: Genotype, PAX6 Transcription Factor, lcsh:QH426-470, Nonsense mutation, Biology, medicine.disease_cause, Exon, Open Reading Frames, Genetics, medicine, Coding region, Missense mutation, Humans, Paired Box Transcription Factors, Eye Abnormalities, Eye Proteins, Aniridia, Genetics (clinical), Alleles, Homeodomain Proteins, Mutation, medicine.disease, eye diseases, Repressor Proteins, lcsh:Genetics, Phenotype, Codon, Nonsense, PAX6, sense organs, Databases, Nucleic Acid, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b54be28cf897ac7d27fdd74bb9a357f8Test
http://www.biomedcentral.com/1471-2156/6/27Test -
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المؤلفون: Veronica van Heyningen, Michael P. Clarke, Alison Brown, Piers Ruddle, Isabelle Russell-Eggitt, Alison Salt, Isabel M. Hanson, Alistair R. Fielder, R. Alex Henderson, Simon T. Cooper, Jane A. Hurst, Kathleen A Williamson, Juan Pedro Martinez-Barbera, Birgit Lorenz, Dianne Gerrelli, Charlotte M. Poloschek, Sanjay M. Sisodiya, Nicola K. Ragge, David R. FitzPatrick, J. Richard O. Collin, Pamela J. Thompson
المصدر: Ragge, N K, Brown, A G, Poloschek, C M, Lorenz, B, Henderson, R A, Clarke, M P, Russell-Eggitt, I, Fielder, A, Gerrelli, D, Martinez-Barbera, J P, Ruddle, P, Hurst, J, Collin, J R O, Salt, A, Cooper, S T, Thompson, P J, Sisodiya, S M, Williamson, K A, Fitzpatrick, D R, van Heyningen, V & Hanson, I M 2005, ' Heterozygous mutations of OTX2 cause severe ocular malformations ', American Journal of Human Genetics, vol. 76, no. 6, pp. 1008-22 . https://doi.org/10.1086/430721Test
مصطلحات موضوعية: Male, Amino Acid Motifs, DNA Mutational Analysis, Optic chiasm, Penetrance, medicine.disease_cause, Microphthalmia, Mice, 0302 clinical medicine, Inheritance Patterns, Genetics(clinical), Eye Abnormalities, Genetics (clinical), Genetics, 0303 health sciences, Mutation, Otx Transcription Factors, Mosaicism, Genes, Homeobox, Brain, Chromosome Mapping, Gene Expression Regulation, Developmental, Articles, Magnetic Resonance Imaging, Pedigree, medicine.anatomical_structure, symbols, Female, Heterozygote, Biology, 03 medical and health sciences, symbols.namesake, Open Reading Frames, Retinitis pigmentosa, medicine, Animals, Humans, Amino Acid Sequence, 030304 developmental biology, Homeodomain Proteins, Anophthalmia, Models, Genetic, Anophthalmos, Genetic Variation, Sequence Analysis, DNA, medicine.disease, eye diseases, Protein Structure, Tertiary, Radiography, Mendelian inheritance, sense organs, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a19c49e1e2c7a4d18a111f125a53a70Test
https://europepmc.org/articles/PMC1196439Test/ -
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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
