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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: 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: 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 -
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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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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 -
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المؤلفون: Richard Axton, Isabel M. Hanson
المصدر: Technical Tips Online. 3(1):56-59
مصطلحات موضوعية: Cloning & Sequencing, law, Cloning sequencing, Mutation detection, Biology, Nested polymerase chain reaction, Molecular biology, Polymerase chain reaction, law.invention
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f503430c86cbcc212642bacffbd2894cTest
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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 -
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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