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: 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

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

المؤلفون: Ioanna Tzoulaki, Isabel M. Hanson, I. M. S. White

المصدر: BMC Genetics, Vol 6, Iss 1, p 27 (2005)
BMC Genetics

مصطلحات 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

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/

المؤلفون: Isabel M. Hanson

المصدر: Pediatric research. 54(6)

مصطلحات موضوعية: Homeodomain Proteins, endocrine system, Pediatrics, medicine.medical_specialty, Mammalian eye, PAX6 Transcription Factor, Biology, Bioinformatics, eye diseases, Eye malformations, Repressor Proteins, Molecular genetics, Pediatrics, Perinatology and Child Health, Mutation, medicine, Animals, Humans, Paired Box Transcription Factors, Identification (biology), sense organs, PAX6, Eye Abnormalities, Child, Eye Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6785aa6405196724bb95e9119e88a914Test
https://pubmed.ncbi.nlm.nih.gov/14561779Test

المؤلفون: Isabel M. Hanson, Veronica van Heyningen

المصدر: Trends in genetics : TIG. 11(7)

مصطلحات موضوعية: animal structures, PAX6 Transcription Factor, Gene Dosage, Gene dosage, Mice, Molecular evolution, Drosophilidae, Genetics, Animals, Humans, Paired Box Transcription Factors, Eye Proteins, Eye Abnormalities, Gene, Aniridia, Homeodomain Proteins, biology, biology.organism_classification, Biological Evolution, eye diseases, DNA-Binding Proteins, Repressor Proteins, Eye development, Drosophila, sense organs, PAX6, Homeotic gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7adb31330486327521e09e409c00471bTest
https://pubmed.ncbi.nlm.nih.gov/7482776Test