المؤلفون: Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun, Francoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S Taylor, Fiona Stewart, Colin E Willoughby, Meriel McEntagart, Peng Tee Khaw, Carol Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury-Ecob, Elias I Traboulsi, Eduardo D Silva, Mukhlis M Madlom, David R Goudie, Brian W Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice D McTrusty, Carol Gardiner, Christopher Yale, Anthony T Moore, Isabelle Russell-Eggitt, Lily Islam, Melissa Lees, Philip L Beales, Stephen J Tuft, Juan B Solano, Miranda Splitt, Jens Michael Hertz, Trine E Prescott, Deborah J Shears, Ken K Nischal, Martine Doco-Fenzy, Fabienne Prieur, I Karen Temple, Katherine L Lachlan, Giuseppe Damante, Danny A Morrison, Veronica van Heyningen, David R FitzPatrick

المصدر: PLoS ONE, Vol 11, Iss 4, p e0153757 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4849793?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/b653c7a9f55349049c0c5eae18e1736fTest

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: Bmc Genetics, Ioanna Tzoulaki, Ian Ms White, Isabel M Hanson

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/46/3b/BMC_Genet_2005_May_26_6_27.tar.gz

وصف الملف: application/zip

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.283.6115Test

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: Isabel M. Hanson

المصدر: Seminars in Cell & Developmental Biology. 12:475-484

مصطلحات موضوعية: animal structures, genetic structures, Dachshund, Sequence Homology, Eye, Mice, Animals, Drosophila (subgenus), Eye Proteins, Gene, Conserved Sequence, Regulator gene, Mammals, Genetics, biology, fungi, Embryo, Cell Biology, Compound eye, biology.organism_classification, Embryonic stem cell, eye diseases, Protein Structure, Tertiary, Gene Expression Regulation, Drosophila, sense organs, PAX6, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a1d752155d2707a51feca9a149b69beTest
https://doi.org/10.1006/scdb.2001.0271Test

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: Kay Metcalfe, Alison Brown, Veronica van Heyningen, Robin M. Winter, Alessandro Bulfone, Marie Robertson, Alessandro DeGrandi, Sandro Banfi, Dian Donnai, Andrea Ballabio, Giuseppe Borsani, Isabel M. Hanson, Loris Bernard, Claudio Gattuso, Richard Axton, Margherita Mariani, Michael J. Dixon

المساهمون: Borsani, G, Degrandi, A, Ballabio, A, Bulfone, A, Bernard, L, Banfi, Sandro, Gattuso, C, Mariani, M, Dixon, M, Donnai, D, Metcalfe, K, Winter, R, Robertson, M, Axton, R, Brown, A, van Heyningen, V, Hanson, I.

المصدر: Human Molecular Genetics. 8:11-23

مصطلحات موضوعية: DNA, Complementary, Molecular Sequence Data, Sequence Homology, Genes, Insect, Biology, Eye, Homology (biology), Mice, Species Specificity, Gene mapping, Complementary, Centromere, Gene expression, Genetics, Animals, Humans, Drosophila Proteins, Amino Acid Sequence, Eye Abnormalities, Eye Proteins, Molecular Biology, Gene, Peptide sequence, In Situ Hybridization, Genetics (clinical), Sequence Homology, Amino Acid, Base Sequence, Alternative splicing, Alternative Splicing, Chromosome Mapping, Drosophila, Mutation, Trans-Activators, DNA, General Medicine, Amino Acid, Genes, Insect, Drosophila Protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3794d67e8444628e9cc197cebf945fb4Test
https://doi.org/10.1093/hmg/8.1.11Test