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المؤلفون: Jamie M Ellingford, Jenny Carmichael, Carmel Toomes, Christopher M. Watson, Roel P J Bevers, Colin A. Johnson, James A. Poulter, Matthew Roche, Helen K. Brittain, Gabrielle Wheway, Alex Stuckey, Sunayna Best, Chris F. Inglehearn, Jenny Lord, Katarzyna Szymanska
المصدر: Best, S, Lord, J, Roche, M, Watson, C M, Poulter, J A, Bevers, R P J, Stuckey, A, Szymanska, K, Ellingford, J M, Carmichael, J, Brittain, H, Toomes, C, Inglehearn, C, Johnson, C A & Wheway, G 2021, ' Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2021-108065Test
مصطلحات موضوعية: Proband, diagnosis, Genomics, Disease, medical, Ciliopathies, State Medicine, Joubert syndrome, Human Phenotype Ontology, genomics, Genetics, Humans, Medicine, genetics, Abnormalities, Multiple, Eye Abnormalities, Genetics (clinical), business.industry, Cilium, congenital, Kidney Diseases, Cystic, medicine.disease, Ciliopathy, Phenotype, and neonatal diseases and abnormalities, business, hereditary
وصف الملف: text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ae82c691b2420bcaacf19be4171770Test
https://doi.org/10.1136/jmedgenet-2021-108065Test -
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المؤلفون: Nikki-Maria Koudis, Damian Smedley, Mychel Rpt Morais, Jamie M Ellingford, Antony Adamson, David R. Sherwood, Maryline Fresquet, Anna S. Li, Sandhya Srinivasan, Eric Hastie, Ranjay Jayadev, Richard W. Naylor, Rachel Lennon, Emily Williams, Raymond T. O'Keefe, Jack F. Ingham, Helen M. Stuart, Craig Lawless, Huw B. Thomas, Qiuyi Chi, Siddharth Banka
مصطلحات موضوعية: Basement membrane, Network complexity, medicine.anatomical_structure, biology, ADAMTS, medicine, Computational biology, biology.organism_classification, Gene, Genome, Phenotype, Zebrafish, Function (biology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5abdb5d7cef4df1add0326719cc4136cTest
https://doi.org/10.1101/2021.10.25.465762Test -
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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: Vinod Kumar Sharma, David J. Green, Jamie M Ellingford, Graeme C.M. Black, Cerys S Manning, Eva Lenassi, David M. McGaughey, Panagiotis I. Sergouniotis
مصطلحات موضوعية: Genetics, education.field_of_study, Retina, Visual acuity, medicine.diagnostic_test, Population, Retinal, Biology, Phenotype, Macular Lesion, chemistry.chemical_compound, Choroidal neovascularization, medicine.anatomical_structure, chemistry, medicine, medicine.symptom, education, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::023d96daedd5838265efc5db8785e337Test
https://doi.org/10.1101/2021.03.05.21252975Test -
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المؤلفون: Christopher Campbell, Graeme C.M. Black, Omamah A. Jiman, Jane Ashworth, Sofia Douzgou, Rachel L. Taylor, Eva Lenassi, Forbes D C Manson, Tracy Fletcher, Stephanie Barton, Jamie M Ellingford, Claire Hardcastle, Simon C Ramsden, Jill Clayton Smith, Susmito Biswas
المصدر: Uk Inherited Retinal Disease Consortium 2020, ' Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-019-0548-5Test
European Journal of Human Geneticsمصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Genetic testing, Adolescent, Disease, 030105 genetics & heredity, Sensitivity and Specificity, Article, 03 medical and health sciences, chemistry.chemical_compound, Retinal Diseases, Internal medicine, Human Phenotype Ontology, medicine, Genetics, Humans, Genetics(clinical), Child, Exome, Genetics (clinical), Aged, medicine.diagnostic_test, Disease genetics, business.industry, Medical genetics, Genetic variants, High-Throughput Nucleotide Sequencing, Infant, Eye Diseases, Hereditary, Retinal, Sequence Analysis, DNA, Syndrome, Middle Aged, Phenotype, 030104 developmental biology, chemistry, Child, Preschool, Next-generation sequencing, Female, business, Genetic diagnosis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10dd98c73ac071d9a5d792ad5a994775Test
http://www.scopus.com/inward/record.url?scp=85076856393&partnerID=8YFLogxKTest -
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المؤلفون: Michael L. Robinson, Letizia Camerota, Emanuela D’Angelo, Brian L. Black, William G. Newman, Eline Overwater, Kevin David Wright, Ingeborg van der Made, Esther E. Creemers, Glenda M. Beaman, Kirk M. McHugh, Rita Genesio, Francesco Brancati, Klaske D. Lichtenbelt, T. Blair Gainous, Elizabeth J. Meijers-Heijboer, Jamie M Ellingford, Silvio Romano, Abeltje M. Polstra, Adrian S. Woolf, Filipa Lopes, Ashley R. Jackson, Vincent M. Christoffels, Alex V. Postma, Arjan C. Houweling
المساهمون: Human Genetics, Medical Biology, ACS - Heart failure & arrhythmias, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Cardiology, Graduate School, Human genetics, ACS - Atherosclerosis & ischemic syndromes, CCA - Cancer biology and immunology, CCA - Cancer Treatment and quality of life, Amsterdam Reproduction & Development (AR&D)
المصدر: Beaman, G, Lopes, F, Ellingford, J, Newman, W, Woolf, A S & et al. 2019, ' Loss-of-function variants in myocardin cause congenital megabladder in humans and mice ', Journal of Clinical Investigation, vol. 129, no. 12, pp. 5374-5380 . https://doi.org/10.1172/JCI128545Test
Journal of clinical investigation, 129(12), 5374-5380. The American Society for Clinical Investigation
Journal of Clinical Investigation, 129(12), 5374-5380. The American Society for Clinical Investigation
Houweling, A C, Beaman, G M, Postma, A V, Blair Gainous, T, Lichtenbelt, K D, Brancati, F, Lopes, F M, Van Der Made, I, Polstra, A M, Robinson, M L, Wright, K D, Ellingford, J M, Jackson, A R, Overwater, E, Genesio, R, Romano, S, Camerota, L, D'Angelo, E, Meijers-Heijboer, E J, Christoffels, V M, McHugh, K M, Black, B L, Newman, W G, Woolf, A S & Creemers, E E 2019, ' Loss-of-function variants in myocardin cause congenital megabladder in humans and mice ', Journal of Clinical Investigation, vol. 129, no. 12, pp. 5374-5380 . https://doi.org/10.1172/JCI128545Test
The Journal of Clinical Investigationمصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Genetic diseases, Molecular genetics, Muscle Biology, Urology, Urinary Bladder, Disease, Biology, Mice, 03 medical and health sciences, Transactivation, 0302 clinical medicine, Gene expression, medicine, Animals, Humans, Loss function, Genetics, Concise Communication, Genetic Variation, Nuclear Proteins, Muscle, Smooth, General Medicine, Phenotype, 030104 developmental biology, Myocardin, Cell culture, 030220 oncology & carcinogenesis, Mutation, Trans-Activators, Female
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41a4fdc3c0110472a56da314a78225b3Test
https://pure.manchester.ac.uk/ws/files/128397791/Houweling_et_al_JCI_accepted_3_Sept_2019.docxTest -
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المؤلفون: Robert B. Hufnagel, Gavin Arno, Jamie M Ellingford
المصدر: Genes
مصطلحات موضوعية: 0301 basic medicine, Genotype, Population, Gene Expression, Penetrance, 030105 genetics & heredity, Biology, 03 medical and health sciences, chemistry.chemical_compound, Retinal Diseases, parasitic diseases, Genetic variation, Genetics, Humans, education, Genetic Association Studies, Genetics (clinical), education.field_of_study, Genetic Variation, Retinal, respiratory system, Phenotype, Editorial, Genetics, Population, 030104 developmental biology, chemistry, human activities
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::604d83a26f826e034c47bf4dea274aacTest
https://doi.org/10.3390/genes11111274Test -
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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