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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: 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: 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/ -
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المؤلفون: Isabel M. Hanson, Kathleen A. Williamson, Veronica van Heyningen, Danny Morrison, Richard Collin, Saima Aijaz, Brian J. Clark, Nicola K. Ragge, David R. FitzPatrick, Alison Brown, Andrea Christoforou
المصدر: Investigative Opthalmology & Visual Science. 45:3871
مصطلحات موضوعية: Adult, DNA Mutational Analysis, Single-nucleotide polymorphism, Biology, medicine.disease_cause, Polymerase Chain Reaction, Microphthalmia, Gene duplication, Genotype, medicine, Humans, Microphthalmos, Eye Proteins, Chromatography, High Pressure Liquid, Homeodomain Proteins, Genetics, Coloboma, Mutation, Polymorphism, Genetic, Anophthalmia, Gene Amplification, Anophthalmos, Exons, Sequence Analysis, DNA, medicine.disease, Molecular biology, eye diseases, genomic DNA, Trans-Activators, sense organs
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcf1b4a61609fcc989a69b721528ae97Test
https://doi.org/10.1167/iovs.04-0641Test