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 medicine

مصطلحات 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

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

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

المؤلفون: D Morrison, Kathy Williamson, Veronica van Heyningen, Harry Campbell, Brian W Fleck, Isabel M. Hanson, J Chalmers, David R. FitzPatrick, I Jones

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Eye disease, Microphthalmia, Prevalence, Genetics, medicine, Humans, Microphthalmos, First-degree relatives, Genetics (clinical), Coloboma, Anophthalmia, business.industry, Infant, Newborn, Anophthalmos, Partial aniridia, medicine.disease, eye diseases, Pedigree, Scotland, Aniridia, Etiology, Female, Original Article, sense organs, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4335add70e15057ebe88c756a2bd8c2Test
https://doi.org/10.1136/jmg.39.1.16Test

المؤلفون: Laura Mazzanti, Jacqueline K. Rainger, Felicity V. Mehendale, Morad Ansari, Antonio Percesepe, Jeanne Amiel, Helen V. Firth, Isabel M. Hanson, I. Karen Temple, Paola Ferrari, Koenraad Devriendt, David R. FitzPatrick, Alan Fryer, Jennie E. Murray, Christopher T. Gordon

المساهمون: Ansari, Morad, Rainger, Jacqueline K., Murray, Jennie E., Hanson, Isabel, Firth, Helen V., Mehendale, Felicity, Amiel, Jeanne, Gordon, Christopher T., Percesepe, Antonio, Mazzanti, Laura, Fryer, Alan, Ferrari, Paola, Devriendt, Koenraad, Temple, I. Karen, Fitzpatrick, David R.

المصدر: European journal of medical genetics. 57(10)

مصطلحات موضوعية: Male, Candidate gene, Nucleocytoplasmic Transport Proteins, 5q deletion, Congenital contractural arachnodactyly, Fibrillin 2 (FBN2), Phosphorylated adaptor for RNA export (PHAX), Pierre Robin sequence, Talipes equinovarus, Fibrillin-2, Haploinsufficiency, Genome, Nucleocytoplasmic Transport Protein, Ear, External, Child, Genetics (clinical), Sequence Deletion, Genetics, 0303 health sciences, Robin Sequence, Pierre Robin Syndrome, Medicine (all), 030305 genetics & heredity, Microfilament Proteins, General Medicine, Syndrome, Phenotype, Talipes equinovaru, Cleft Palate, Clubfoot, Phosphoprotein, Pierre Robin syndrome, Chromosomes, Human, Pair 5, Female, Human, Contracture, Adolescent, Mutation, Missense, Biology, Fibrillins, Fingers, 03 medical and health sciences, Young Adult, Genetic, Finger, medicine, Humans, Gene, 030304 developmental biology, Microfilament Protein, medicine.disease, Phosphoproteins, Gene Deletion

وصف الملف: ELETTRONICO; text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5ffba0d888d9587d1263a7d5328e442Test
https://pubmed.ncbi.nlm.nih.gov/25676702Test

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

المؤلفون: Amanda J. Churchill, James Love, Richard Axton, Isabel M. Hanson, Veronica van Heyningen

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

المؤلفون: György Fekete, Anne Seawright, Veronica van Heyningen, Shirley Hodgson, Isabel M. Hanson, Dmitri Zaletayev, Karen Hardman

المصدر: Human Molecular Genetics. 2:915-920

مصطلحات موضوعية: Male, endocrine system, congenital, hereditary, and neonatal diseases and abnormalities, Positional cloning, DNA Mutational Analysis, Molecular Sequence Data, Mutant, Biology, medicine.disease_cause, Polymerase Chain Reaction, Mice, Open Reading Frames, Genetics, medicine, Animals, Humans, Amino Acid Sequence, Aniridia, Molecular Biology, Gene, Genetics (clinical), Mutation, Base Sequence, Chromosomes, Human, Pair 11, Point mutation, DNA, General Medicine, medicine.disease, eye diseases, Disease Models, Animal, Female, sense organs, PAX6, Homeotic gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fadcaa026dd24c7abb4c165599acebf7Test
https://doi.org/10.1093/hmg/2.7.915Test

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

المؤلفون: Jane Prosser, Isabel M. Hanson, Jack Favor, Brigid L.M. Hogan, Nicholas D. Hastie, Grady F. Saunders, Veronica van Heyningen, Robert E. Hill, Tim Jordan, Carl C. T. Ton

المصدر: Nature. 354:522-525

مصطلحات موضوعية: Male, Heterozygote, Candidate gene, Positional cloning, Molecular Sequence Data, Restriction Mapping, Locus (genetics), Biology, Eye, Polymerase Chain Reaction, Embryonic and Fetal Development, Mice, medicine, Animals, Amino Acid Sequence, Eye Abnormalities, Cloning, Molecular, Alleles, Crosses, Genetic, Genetics, Multidisciplinary, Eye morphogenesis, Base Sequence, Genes, Homeobox, Pax genes, Embryo, Mammalian, medicine.disease, Mice, Mutant Strains, Mice, Inbred C57BL, Blotting, Southern, Phenotype, Oligodeoxyribonucleotides, Aniridia, Mutation, Homeobox, Female, sense organs, PAX6, Chromosome Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a73c136bd6c81bda6c3dfd1661ab0e6Test
https://doi.org/10.1038/354522a0Test