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1دورية أكاديمية
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)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC4849793?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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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: 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: 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 -
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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 -
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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: Isabel M. Hanson, Ranjit Bhogal, Peter Little, Sarah Danes, Günther Zehetner, Hans Lehrach, J. M. Fletcher, Jean Weissenbach, Kathy Oghene, Kathy Williamson, Marcel M.A.M. Mannens, Andreas Schedl, Elspeth A. Bruford, Anne Seawright, Wendy A. Bickmore, Shelagh Boyle, Jan M.N. Hoovers, Simon G. Gregory, Veronica van Heyningen, Claudine Junien, Jon Williams, J. Fantes, Grant C. Sellar
المساهمون: Other departments
المصدر: Genomics, 25(2), 447-461. Academic Press Inc.
مصطلحات موضوعية: Genetic Markers, Genes, Wilms Tumor, Molecular Sequence Data, Chromosome Breakpoints, Gene Expression, Locus (genetics), Computational biology, Biology, Polymerase Chain Reaction, Cell Line, Gene mapping, Genetics, medicine, Humans, Chromosomes, Artificial, Yeast, In Situ Hybridization, Fluorescence, Base Sequence, Contig, medicine.diagnostic_test, Chromosomes, Human, Pair 11, Chromosome Mapping, Chromosome, Cosmids, Electrophoresis, Gel, Pulsed-Field, Genes, Genetic marker, Cosmid, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::614f13b6817d5ed0d21a2da6f8991773Test
https://doi.org/10.1016/0888-7543Test(95)80045-n -
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المؤلفون: Dinah Rahman, Paul S. Freemont, John Trowsdale, Nicola O’Reilly, Darryl J. Pappin, Gerard I. Evan, Ruth C. Lovering, Isabel M. Hanson, Katherine L. B. Borden, Stephen R. Martin
المصدر: Proceedings of the National Academy of Sciences. 90:2112-2116
مصطلحات موضوعية: Molecular Sequence Data, Biology, Protein Structure, Secondary, Cell Line, Kelch motif, Tumor Cells, Cultured, Ring finger, medicine, Animals, Humans, Amino Acid Sequence, RNA, Messenger, Structural motif, Polycomb Repressive Complex 1, Genetics, Zinc finger, Multidisciplinary, Base Sequence, Sequence Homology, Amino Acid, Zinc Fingers, Cobalt, DNA, Oncogenes, DNA-Binding Proteins, RING finger domain, Zinc, Tetratricopeptide, medicine.anatomical_structure, Spectrophotometry, PHD finger, RNA, Poly A, Sequence motif, HeLa Cells, Protein Binding, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d545f722710b9be09bd2490146f702d0Test
https://doi.org/10.1073/pnas.90.6.2112Test