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المؤلفون: Malena Daich Varela, James Bellingham, Fabiana Motta, Neringa Jurkute, Jamie M Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz-Kriegl, Karolina Kaminska, Francesca Cancellieri, Hendrik P N Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E Cheetham, Michel Michaelides, Omar A Mahroo, Anthony T Moore, Andrew R Webster, Gavin Arno
المصدر: Human molecular genetics, vol 32, iss 4
مصطلحات موضوعية: Patient Care Team, Genetics & Heredity, Whole Genome Sequencing, DNA Mutational Analysis, Human Genome, Membrane Proteins, Nerve Tissue Proteins, General Medicine, Biological Sciences, Medical and Health Sciences, Pedigree, Clinical Research, Mutation, Retinal Dystrophies, Genetics, Humans, 2.1 Biological and endogenous factors, Aetiology, Eye Proteins, Molecular Biology, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eecf9b5f20e38556985a642ed4fc37bTest
https://escholarship.org/uc/item/4z14k3r2Test -
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المؤلفون: Christos Iosifidis, Jingshu Liu, Theodora Gale, Jamie M. Ellingford, Christopher Campbell, Stuart Ingram, Kate Chandler, Neil R. A. Parry, Graeme C. Black, Panagiotis I. Sergouniotis
المصدر: Acta Ophthalmologica. 100
مصطلحات موضوعية: Chromosomes, Human, Pair 15, TRPM Cation Channels, Chromosome Disorders, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, General Medicine, Pedigree, Ophthalmology, Night Blindness, Seizures, Intellectual Disability, Mutation, Electroretinography, Myopia, Humans, Chromosome Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4c39454a873ee1d305b8b0a9d76cc56Test
https://doi.org/10.1111/aos.15186Test -
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المؤلفون: Jamie M Ellingford, Huw B. Thomas, Raymond T. O'Keefe, Glenda M. Beaman, Sofia Douzgou, William G. Newman, Katrina Prescott, Katherine A. Wood, Emma Hobson
المصدر: Newman, W, Wood, K, O'Keefe, R, Ellingford, J, Thomas, H, Douzgou, S, Beaman, G, Hobson, E & Prescott, K 2022, ' Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome ', Clinical Genetics, vol. 101, no. 2, pp. 255-259 . https://doi.org/10.1111/cge.14082Test
مصطلحات موضوعية: Heart Defects, Congenital, Spliceosome, Genotype, RNA Splicing, Biology, Deafness, Choanal Atresia, Exon, splicing, Rare Disease, Genetics, Humans, Genetic Predisposition to Disease, Promoter Regions, Genetic, Transcription factor, Genetics (clinical), Alleles, Genetic Association Studies, Ribonucleoprotein, U5 Small Nuclear, Binding Sites, burn mckeown syndrome, TNXL4A, Facies, Promoter, Pedigree, DNA binding site, Phenotype, RNA splicing, Mutation, Female, Trans-acting, Minigene, Protein Binding, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d21d6a68dc4a89c7713b820bc8c4feeTest
https://pubmed.ncbi.nlm.nih.gov/34713892Test -
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المؤلفون: Graeme C.M. Black, David M. McGaughey, Vinod Kumar Sharma, Eva Lenassi, Jamie M Ellingford, David J. Green, Panagiotis I. Sergouniotis, Cerys S Manning
المصدر: Green, D, Lenassi, E, Manning, C, McGaughey, D, Sharma, V, Black, G, Ellingford, J & Sergouniotis, P 2021, ' North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-associated non-coding variants ', Investigative Ophthalmology and Visual Science., vol. 62, no. 7, pp. 16 . https://doi.org/10.1167/iovs.62.7.16Test
Investigative Ophthalmology & Visual Scienceمصطلحات موضوعية: Epigenomics, Male, 0301 basic medicine, Visual acuity, genetic structures, Visual Acuity, gene regulatory network, chemistry.chemical_compound, 0302 clinical medicine, Corneal Dystrophies, Hereditary, Genetics, education.field_of_study, medicine.diagnostic_test, noncoding variation, Middle Aged, Macular dystrophy, transcriptional enhancer, Pedigree, Macular Lesion, Choroidal neovascularization, medicine.anatomical_structure, Child, Preschool, Female, Symptom Assessment, medicine.symptom, Tomography, Optical Coherence, Adolescent, Population, widefield retinal imaging, Biology, Retina, 03 medical and health sciences, north carolina macular dystrophy, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Eye Proteins, education, Genetic Association Studies, Genetic testing, Retinal, Histone-Lysine N-Methyltransferase, eye diseases, Ophthalmoscopy, 030104 developmental biology, chemistry, 030221 ophthalmology & optometry, sense organs, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a54dab8ec41f28b054fe88c24b8e6790Test
https://research.manchester.ac.uk/en/publications/acbfede1-271d-4c44-984f-463a9fae8f1dTest -
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المؤلفون: Stefan Meyer, Rachel Dixon, Robert F Wynn, Andrew M Will, Denise Bonney, Jamie M Ellingford, Bronwyn Kerr, Ben Adams, Nicholas Telford, Graeme C.M. Black, Jill E. Urquhart
المصدر: Cancer genetics.
مصطلحات موضوعية: Adult, Male, Cancer Research, Pediatrics, medicine.medical_specialty, Adolescent, Penetrance, Biology, Trisomy 8, 03 medical and health sciences, 0302 clinical medicine, Fatal Outcome, hemic and lymphatic diseases, Genetics, medicine, Humans, Family history, Sibling, Child, Molecular Biology, Genetic testing, Chromosome 7 (human), GATA2 Deficiency, medicine.diagnostic_test, Base Sequence, Siblings, medicine.disease, Pedigree, Transplantation, GATA2 Transcription Factor, Leukemia, Myeloid, 030220 oncology & carcinogenesis, Cytogenetic Analysis, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64bdf34d157840c1abd638966169323eTest
https://pubmed.ncbi.nlm.nih.gov/33957466Test -
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المؤلفون: Andrea L, Vincent, Nandoun, Abeysekera, Katherine A, van Bysterveldt, Verity F, Oliver, Jamie M, Ellingford, Stephanie, Barton, Graeme Cm, Black
المصدر: Clinicalexperimental ophthalmology. 45(9)
مصطلحات موضوعية: Adult, Male, Cyclic Nucleotide Phosphodiesterases, Type 6, DNA Mutational Analysis, Genetic Variation, DNA, Middle Aged, Polynesia, Pedigree, Young Adult, Phenotype, Mutation, Retinal Dystrophies, Humans, Female, Genetic Testing, Prospective Studies, Retinitis Pigmentosa, Aged, Follow-Up Studies, New Zealand
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d1921e9e6549545c23b075ffd261a074Test
https://pubmed.ncbi.nlm.nih.gov/29271598Test -
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المؤلفون: David R. FitzPatrick, Graeme C.M. Black, Sarah Waller, Alison M. Meynert, Deirdre E. Donnelly, Jill E. Urquhart, I Chris Lloyd, Jill Clayton-Smith, Gisela Wilcox, Rachel L. Taylor, Jamie M Ellingford, Charu Deshpande, Mark T. Handley, Helen Mundy, Christopher Campbell
المصدر: Taylor, R L, Handley, M T, Waller, S, Campbell, C, Urquhart, J, Meynert, A M, Ellingford, J M, Donnelly, D, Wilcox, G, Lloyd, I C, Mundy, H, FitzPatrick, D R, Deshpande, C, Clayton-Smith, J & Black, G C 2017, ' Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature ', Investigative Ophthalmology & Visual Science, vol. 58, no. 1, pp. 594-603 . https://doi.org/10.1167/iovs.16-21026Test
Investigative ophthalmology & visual science
Taylor, R L, Handley, M T, Waller, S, Campbell, C, Urquhart, J, Meynert, A M, Ellingford, J M, Donnelly, D, Wilcox, G, Lloyd, I C, Mundy, H, FitzPatrick, D R, Deshpande, C, Clayton-Smith, J & Black, G C 2017, ' Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature ', Investigative ophthalmology & visual science, vol. 58, no. 1, pp. 594-603 . https://doi.org/10.1167/iovs.16-21026Testمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Heterozygote, Time Factors, Adolescent, DNA Copy Number Variations, DNA Mutational Analysis, Very long chain fatty acid, Disease, Biology, Bioinformatics, Short stature, Cataract, Article, Peroxisomal Disorders, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, genomics, medicine, Humans, PEX11B, Copy-number variation, Child, Genetics, peroxisome biogenesis disorder, Membrane Proteins, DNA, Peroxisome, medicine.disease, Phenotype, Pedigree, Developmental disorder, 030104 developmental biology, congenital cataract, chemistry, Child, Preschool, Mutation, Female, next-generation sequencing, medicine.symptom, Follow-Up Studies
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9659220464b7f8498aea1c42ed3f7b5Test
https://hdl.handle.net/20.500.11820/f9b17085-9d01-4e54-9b95-58c2fc318024Test -
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المؤلفون: Rachel L. Taylor, Elisabeth J. Nichol, Sofia Douzgou, Graeme C.M. Black, Georgina Hall, Jill Clayton-Smith, Jiten Morarji, Claire Hardcastle, Jamie M Ellingford, Susmito Biswas, Stephanie Barton, Vinod Sharma, Simon C Ramsden, I Chris Lloyd, Claire M. Delaney, Lindsi C. Williams, Jane Ashworth, Panagiotis I. Sergouniotis, Christopher Campbell, Neil R. A. Parry
المصدر: Ophthalmology. 124(7)
مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Adolescent, Disease, 03 medical and health sciences, Retinal Dystrophies, medicine, Humans, Genetic Testing, Medical diagnosis, Child, Eye Proteins, Genetic Association Studies, Genetic testing, Retrospective Studies, medicine.diagnostic_test, business.industry, Autosomal dominant trait, Retrospective cohort study, Pedigree, Ophthalmology, 030104 developmental biology, Phenotype, Molecular Diagnostic Techniques, Cohort, Population study, Pediatric ophthalmology, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6601c8a99759371b96b74869be9566e9Test
https://pubmed.ncbi.nlm.nih.gov/28341476Test -
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المؤلفون: Francis L. Munier, Georgia G. Yioti, Carel B. Hoyng, Pietro Farinelli, Sara Balzano, Jamie M Ellingford, Viet H. Tran, Olivier Bonny, Christos Ikonomidis, Sten Andréasson, Veronika Vaclavik, Chris F. Inglehearn, Nicola Bedoni, Lonneke Haer-Wigman, Daniel F. Schorderet, Maria Stefaniotou, Fabien Murisier, Adam P. Booth, Mohammed E El-Asrag, Carlo Rivolta, Konstantinos Nikopoulos, Nathalie M. Bax, Yan Litzistorf, Frans P.M. Cremers, Carmel Toomes, Beryl Royer-Bertrand, Graeme C.M. Black, Caroline C W Klaver, Martin McKibbin, Manir Ali, Alberta A H J Thiadens
المساهمون: Ophthalmology
المصدر: Human Molecular Genetics, 25, 4546-4555
Scopus-Elsevier
Human Molecular Genetics, 25(20), 4546-4555. Oxford University Press
Human molecular genetics, vol. 25, no. 20, pp. 4546-4555
Human Molecular Genetics, 25, 20, pp. 4546-4555مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Male, DNA Mutational Analysis, Gene Expression, medicine.disease_cause, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Mice, 0302 clinical medicine, Testis, Genetics (clinical), Genetics, Mutation, Homozygote, Genetic disorder, General Medicine, Middle Aged, Spermatozoa, Pedigree, medicine.anatomical_structure, Organ Specificity, Sperm Motility, Female, Photoreceptor Cells, Vertebrate, Gene isoform, Adult, Adolescent, Biology, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, medicine, Animals, Humans, Allele, Eye Proteins, Molecular Biology, Gene, Infertility, Male, Aged, Retina, Dystrophy, medicine.disease, Molecular biology, Rats, Disease Models, Animal, 030104 developmental biology, Carrier Proteins, 030217 neurology & neurosurgery, Cone-Rod Dystrophies
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86735e0d0550260dadf7eb91ef7e54b7Test
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المؤلفون: Panagiotis I. Sergouniotis, Cecilia Fenerty, Graeme C.M. Black, James O'Sullivan, Jamie M Ellingford
المصدر: Acta Ophthalmologica. 95:e249-e250
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Genotype, Glaucoma, Biology, DNA sequencing, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Pupil Disorders, medicine, Humans, Point Mutation, Genetic Testing, Child, Eye Proteins, Genetics, Chromosomes, Human, Pair 13, General Medicine, Microcoria, medicine.disease, Pedigree, Ophthalmology, 030104 developmental biology, 030221 ophthalmology & optometry, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1577979856176d2044cc6e34b6f25422Test
https://doi.org/10.1111/aos.13246Test