نتائج البحث - "Jamie M. Ellingford"

المصدر: Lenassi, E, Clayton-Smith, J, Douzgou, S, Ramsden, S C, Ingram, S, Hall, G, Hardcastle, C L, Fletcher, T A, Taylor, R L, Ellingford, J M, Newman, W D, Fenerty, C, Sharma, V, Lloyd, I C, Biswas, S, Ashworth, J L, Black, G C & Sergouniotis, P I 2020, ' Clinical utility of genetic testing in 201 preschool children with inherited eye disorders ', Genetics in Medicine, vol. 22, no. 4, pp. 745-751 . https://doi.org/10.1038/s41436-019-0722-8Test
Genet Med
Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pediatrics, clinical utility, albinism, Eye, Article, Cataract, Eye Abnormalities/genetics, 03 medical and health sciences, Dysgenesis, 0302 clinical medicine, Retinal Diseases, Humans, Medicine, Eye Abnormalities, Genetic Testing, Ectopia lentis, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, Cataract/diagnosis, Infant, Newborn, Correction, Infant, medicine.disease, inherited eye disease, Bilateral Cataracts, 030104 developmental biology, congenital cataract, inherited retinal disease, Child, Preschool, 030221 ophthalmology & optometry, Albinism, Lens disorder, Medical genetics, Eye disorder, Retinal Diseases/diagnosis, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06a85355a32cb8ccea2d93935efba0e5Test
https://doi.org/10.1038/s41436-019-0722-8Test

5

North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-associated non-coding variants

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 Science

مصطلحات 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

6

Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission

المؤلفون: Ryan George, William G. Newman, D A Gokhale, Jamie M Ellingford, Graeme C.M. Black, Jonathan J Edgerley, Nicholas Machin, Stephen Ball, John H McDermott, Shazaad Ahmad

المصدر: eLife, Vol 10 (2021)
Ellingford, J M, George, R, Mcdermott, J H, Ahmad, S, Edgerley, J J, Gokhale, D, Newman, W G, Ball, S, Machin, N & Black, G C 2021, ' Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission ', eLife, vol. 10, e65453 . https://doi.org/10.7554/eLife.65453Test
eLife

مصطلحات موضوعية: 0301 basic medicine, Male, viruses, Genome, law.invention, Infectious Disease Transmission, Professional-to-Patient, 0302 clinical medicine, law, Infection control, 030212 general & internal medicine, Biology (General), Cross Infection, Microbiology and Infectious Disease, General Neuroscience, virus diseases, General Medicine, sequencing, Virus, Transmission (mechanics), Medicine, Female, Research Article, Human, Infectious Disease Transmission, Patient-to-Professional, QH301-705.5, Health Personnel, Science, Genomics, Computational biology, Biology, healthcare-associated, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, healthcare worker, Humans, genome, Aged, Whole genome sequencing, General Immunology and Microbiology, Whole Genome Sequencing, SARS-CoV-2, fungi, Outbreak, COVID-19, Genetics and Genomics, nosocomial, 030104 developmental biology, Infectious disease (medical specialty), Contact Tracing, Contact tracing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::243397b5ae5821059695f61572817803Test
https://elifesciences.org/articles/65453Test

7

Extended gene panel testing in lobular breast cancer

المؤلفون: D. Gareth Evans, Miriam J. Smith, Elke M van Veen, William G. Newman, Emma R. Woodward, Anthony Howell, Jamie M Ellingford, Naomi L. Bowers, Andrew J Wallace, Elaine F. Harkness, Helen Byers, Sacha J Howell, Fiona Lalloo

المصدر: Familial cancer. 21(2)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e9dd8915ceec95e1abaa6bd4b07ba48Test
https://pubmed.ncbi.nlm.nih.gov/33763779Test

8

Improving the clinical interpretation of missense variants in X linked genes using structural analysis

المؤلفون: Panagiotis I. Sergouniotis, Graeme C.M. Black, Nicholas Lench, Simon C Ramsden, Simon C. Lovell, Shalaw R. Sallah, Jamie M Ellingford

المصدر: Sallah, S R, Ellingford, J M, Sergouniotis, P I, Ramsden, S C, Lench, N, Lovell, S C & Black, G C 2021, ' Improving the clinical interpretation of missense variants in X linked genes using structural analysis ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2020-107404Test

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ac61f7e02aa3088923c97ec452f8b3cTest
https://pubmed.ncbi.nlm.nih.gov/33766936Test

9

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease

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 Genetics

مصطلحات 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

10

Variability in gene expression is associated with incomplete penetrance in inherited eye disorders

المؤلفون: Shalaw R. Sallah, David J. Green, Panagiotis I. Sergouniotis, Simon C. Lovell, Jamie M Ellingford

المصدر: Genes
Volume 11
Issue 2
Green, D J, Sallah, S R, Ellingford, J M, Lovell, S C & Sergouniotis, P I 2020, ' Variability in gene expression is associated with incomplete penetrance in inherited eye disorders ', Genes, vol. 11, no. 2, 179 . https://doi.org/10.3390/genes11020179Test
Genes, Vol 11, Iss 2, p 179 (2020)

مصطلحات موضوعية: 0301 basic medicine, Eye Diseases, Gene Expression, Penetrance, Gene mutation, Genome, Transcriptome, 0302 clinical medicine, Genotype, Databases, Genetic, Gene expression, Genetics(clinical), Inherited retinal disease, Mendelian disorders, Genetics (clinical), Skin, Genetics, education.field_of_study, incomplete penetrance, Brain, Inherited eye disease, Blood, Organ Specificity, inherited retinal disease, symbols, lcsh:QH426-470, Population, Biology, Retina, Article, 03 medical and health sciences, symbols.namesake, Retinal Diseases, variable expressivity, Variable expressivity, Humans, Genetic Predisposition to Disease, education, Gene, Incomplete penetrance, Fibroblasts, inherited eye disease, lcsh:Genetics, 030104 developmental biology, Gene Ontology, Gene Expression Regulation, Mendelian inheritance, Eye disorder, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db8ea5d09a9072175463eb0ba7dff331Test
https://doi.org/10.1101/2020.01.28.915504Test

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