نتائج البحث - "Sally L. Ricketts"

1

Improving the resolution of canine genome-wide association studies using genotype imputation: A study of two breeds

المساهمون: Jenkins, Christopher A [0000-0001-9082-4270], Apollo - University of Cambridge Repository

المصدر: Animal genetics
Animal genetics, vol 52, iss 5
Jenkins, C A, Aguirre, G, André, C, Bannasch, D, Becker, D, Davis, B, Drögemüller, C, Ekenstedt, K, Faller, K, Forman, O, Friedenberg, S, Furrow, E, Giger, U, Hitte, C, Hytönen, M, Jagannathan, V, Leeb, T, Lohi, H, Mellersh, C S, Mickelson, J R, Murgiano, L, Oberbauer, A, Schmutz, S, Schoenebeck, J J, Summers, K M, Van Steenbeek, F G, Wade, C, Schofield, E C, Mellersh, C S, De Risio, L & Ricketts, S L 2021, ' Improving the resolution of canine genome-wide association studies using genotype imputation: A study of two breeds ', Animal Genetics . https://doi.org/10.1111/age.13117Test
Jenkins, Christopher A.; Dog Biomedical Variant Database, Consortium; Schofield, Ellen C.; Mellersh, Cathryn S.; De Risio, Luisa; Ricketts, Sally L. (2021). Improving the resolution of canine genome-wide association studies using genotype imputation: A study of two breeds. Animal genetics, 52(5), pp. 703-713. Wiley 10.1111/age.13117 <http://dx.doi.org/10.1111/age.13117Test>
Animal Genetics, 52(5), 703. Wiley-Blackwell

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2deb3dcb2333357cfe21125f9e55d038Test

2

Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs

المؤلفون: Cathryn S. Mellersh, Lajos Kalmar, Kaspar Matiasek, Ellen Schofield, Sally L. Ricketts, Christopher A. Jenkins, Hannes Lohi, Kaisa Kyöstilä, Luisa De Risio, Lorenzo Mari

المساهمون: Department of Medical and Clinical Genetics, Veterinary Biosciences, Medicum, Helsinki One Health (HOH), Haartman Institute (-2014), Veterinary Genetics, Jenkins, Christopher A. [0000-0001-9082-4270], Kalmar, Lajos [0000-0003-3691-8350], Matiasek, Kaspar [0000-0001-5021-3280], Mari, Lorenzo [0000-0002-5732-1011], Lohi, Hannes [0000-0003-1087-5532], Schofield, Ellen C. [0000-0003-0648-1418], De Risio, Luisa [0000-0001-9005-4165], Ricketts, Sally L. [0000-0002-5644-7958], Apollo - University of Cambridge Repository, Jenkins, Christopher A [0000-0001-9082-4270], Schofield, Ellen C [0000-0003-0648-1418], Ricketts, Sally L [0000-0002-5644-7958]

المصدر: PLoS Genetics, Vol 16, Iss 1, p e1008527 (2020)
PLoS Genetics

مصطلحات موضوعية: Cancer Research, Cerebellum, European People, QH426-470, 413 Veterinary science, 0302 clinical medicine, Ethnicities, Dog Diseases, KCNJ10, Genetics (clinical), Genetics, Mammals, Cerebral Cortex, 0303 health sciences, Movement Disorders, Mammalian Genomics, biology, Pets and Companion Animals, 1184 Genetics, developmental biology, physiology, Eukaryota, Brain, Neurodegenerative Diseases, Kv Channel-Interacting Proteins, Genomics, medicine.anatomical_structure, Neurology, Vertebrates, Spinocerebellar ataxia, medicine.symptom, Anatomy, SPONGY DEGENERATION, POTASSIUM CHANNELS, Research Article, Ataxia, Cerebellar Ataxia, Norwegian People, Animal Types, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, CLONING, 03 medical and health sciences, Dogs, medicine, Animals, Molecular Biology, Gene, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Whole genome sequencing, Medicine and health sciences, SPINOCEREBELLAR ATAXIA, Cerebellar ataxia, Whole Genome Sequencing, Biology and life sciences, MUTATIONS, Organisms, Computational Biology, medicine.disease, Genome Analysis, Animal Genomics, Amniotes, Mutation, biology.protein, Population Groupings, People and places, Zoology, 030217 neurology & neurosurgery

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https://doaj.org/article/518c1db253d74125b19a86fd02a0168cTest

3

Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model

المؤلفون: Joshua Hersheson, Henry Houlden, Alejandro Luján Feliu-Pascual, Oliver P. Forman, Rebekkah J. Hitti, Charlotte Spicer, Nicolas Granger, Sally L. Ricketts

المصدر: PeerJ
PeerJ, Vol 7, p e7983 (2019)

مصطلحات موضوعية: Veterinary Medicine, Demyelinating neuropathy, lcsh:Medicine, Genome-wide association study, General Biochemistry, Genetics and Molecular Biology, Canine, 03 medical and health sciences, 0302 clinical medicine, SET-binding factor 2, Genotype, medicine, Genetics, Animal model, Muscular dystrophy, Spontaneous disease, Gene, Genome wide association screen, Genetic variant, 030304 developmental biology, 0303 health sciences, Autosome, biology, General Neuroscience, lcsh:R, Charcot-Marie-Tooth diseases, General Medicine, medicine.disease, Myelin basic protein, Peripheral neuropathy, Neurology, biology.protein, Inherited polyneuropathy, General Agricultural and Biological Sciences, Chromosome 21, 030217 neurology & neurosurgery, Myotubularine related proteins

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4

Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog

المؤلفون: Louise Pettitt, Roser Tetas Pont, Renata Stavinohova, Cathryn S. Mellersh, Louise M. Burmeister, Sally L. Ricketts, Claudia Hartley, Ellen Schofield, James A. C. Oliver, Rebekkah J. Hitti

المصدر: PLoS ONE
Stavinohova, R, Hartley, C, Burmeister, L M, Ricketts, S L, Pettitt, L, Pont, R T, Hitti, R J, Schofield, E, Oliver, J A C & Mellersh, C S 2019, ' Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog ', PLoS ONE, vol. 14, no. 8, e0220761 . https://doi.org/10.1371/journal.pone.0220761Test
PLoS ONE, Vol 14, Iss 8, p e0220761 (2019)
Stavinohova, R, Hartley, C, Burmeister, L M, Ricketts, S L, Pettitt, L, Tetas Pont, R, Hitti, R J, Schofield, E, Oliver, J A C & Mellersh, C S 2019, ' Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit dog ', PLoS ONE, vol. 14, no. 8, e0220761 . https://doi.org/10.1371/journal.pone.0220761Test

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Dwarfism, Pathology and Laboratory Medicine, 0403 veterinary science, Genotype, Medicine and Health Sciences, Dog Diseases, 2. Zero hunger, Mammals, Multidisciplinary, Eye Lens, Pets and Companion Animals, Eukaryota, 04 agricultural and veterinary sciences, Pedigree, Vertebrates, Medicine, Retinal Disorders, Anatomy, Research Article, Dysplasia, 040301 veterinary sciences, Science, Ocular Anatomy, Animal Types, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Collagen Type IX, 03 medical and health sciences, Dogs, Signs and Symptoms, Ocular System, Diagnostic Medicine, medicine, Genetics, Animals, Oculoskeletal dysplasia, Allele, Allele frequency, Alleles, Cataracts, Organisms, Retinal Detachment, Biology and Life Sciences, medicine.disease, Molecular biology, Ophthalmology, 030104 developmental biology, Genetic Loci, Lens Disorders, Amniotes, Mutation, Retinal dysplasia, Eyes, Head, Zoology

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http://europepmc.org/articles/PMC6695176Test

5

Glaucoma-causing ADAMTS17 mutations are also reproducibly associated with height in two domestic dog breeds: selection for short stature may have contributed to increased prevalence of glaucoma

المؤلفون: Sally L. Ricketts, Cathryn S. Mellersh, Emily C. Jeanes, David J Gould, James A. C. Oliver

المصدر: Canine Genetics and Epidemiology, Vol 6, Iss 1, Pp 1-11 (2019)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9070b0658b7224ca330ce01a02e2d74bTest
https://doi.org/10.1186/s40575-019-0071-6Test

6

Glaucoma-causing

المؤلفون: Emily C, Jeanes, James A C, Oliver, Sally L, Ricketts, David J, Gould, Cathryn S, Mellersh

المصدر: Canine Genetics and Epidemiology

مصطلحات موضوعية: Primary open angle Glaucoma, Height, Research, Weill-Marchesani-like syndrome, ADAMTS17, Primary Lens luxation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::c9147039af8adb53f9c454c982d55d96Test
https://pubmed.ncbi.nlm.nih.gov/31131111Test

7

Hereditary ataxia in four related Norwegian Buhunds

المؤلفون: Lorenzo Mari, Oliver P. Forman, Alberta De Stefani, Sally L. Ricketts, Kaspar Matiasek, Luisa De Risio, Christopher A. Jenkins

المصدر: Journal of the American Veterinary Medical Association. 253(6)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a00a0b914b82eb8c3bcb9e818bd9fff3Test
https://pubmed.ncbi.nlm.nih.gov/30179085Test

8

Meeting report from the Companion Animal Genetic Health conference 2018 (CAGH 2018):a healthy companionship: the genetics of health in dogs

المؤلفون: Thomas W. Marchant, Sally L. Ricketts

المصدر: Ricketts, S L & Marchant, T W 2018, ' Meeting report from the Companion Animal Genetic Health conference 2018 (CAGH 2018) : a healthy companionship: the genetics of health in dogs ', Companion Animal Genetic Health (CAGH) conference 2018, Edinburgh, United Kingdom, 14/05/18-15/05/18 pp. 6 . https://doi.org/10.1186/s40575-018-0061-0Test
Canine Genetics and Epidemiology, Vol 5, Iss S1, Pp 1-3 (2018)

مصطلحات موضوعية: Gerontology, lcsh:Genetics, Interpersonal relationship, lcsh:QH426-470, Companion animal, lcsh:Zoology, MEDLINE, lcsh:QL1-991, General Medicine, Psychology

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https://www.pure.ed.ac.uk/ws/files/79755749/Meeting_report_from_the_Companion_....pdfTest

9

Genetic study of border terriers

المؤلفون: Bryan McLaughlin, Christopher A. Jenkins, Donna Foster, Mark Lowrie, Sally L. Ricketts

المصدر: Veterinary Record. 185:411-411

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7990d363e6788762872e98c2a01b709Test
https://doi.org/10.1136/vr.l5798Test

10

An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease

المؤلفون: Karim Makdoumi, Suvi Mäkeläinen, Agnese Viluma, Minas Hellsand, Kristina Narfström, Cathryn S. Mellersh, Sally L. Ricketts, Tomas F. Bergström, Marta Gòdia, Caroline J. Zeiss, Daniela Hahn, Göran Andersson, Björn Ekesten, Finn Hallböök

المساهمون: Swedish Research Council for Environment, Agricultural Sciences and Spatial Planning

المصدر: Plos Genetics 15 (2019) 3
Digital.CSIC. Repositorio Institucional del CSIC
instname
PLoS Genetics, Vol 15, Iss 3, p e1007873 (2019)
Plos Genetics, 15(3)
PLoS Genetics

مصطلحات موضوعية: Male, Models, Molecular, Photoreceptors, Retinal degeneration, Pathology, Sensory Receptors, genetic structures, Protein Conformation, Social Sciences, ABCA4, Diagnostic Radiology, Macular Degeneration, chemistry.chemical_compound, Animal Cells, Medicine and Health Sciences, Stargardt Disease, Psychology, Dog Diseases, Tomography, Mammals, Neurons, biology, Radiology and Imaging, Homozygote, Retinal Degeneration, Eukaryota, Animal Models, Pedigree, medicine.anatomical_structure, Experimental Organism Systems, Codon, Nonsense, Vertebrates, Retinal Disorders, Female, Sensory Perception, Cellular Types, Anatomy, Research Article, Signal Transduction, medicine.medical_specialty, lcsh:QH426-470, Imaging Techniques, Ocular Anatomy, Genes, Recessive, Mouse Models, Research and Analysis Methods, Retina, Lipofuscin, Frameshift mutation, Dogs, Model Organisms, Ocular System, Diagnostic Medicine, medicine, Genetics, Animals, Humans, Life Science, Amino Acid Sequence, Genetik, Retinal pigment epithelium, Base Sequence, Whole Genome Sequencing, Organisms, Biology and Life Sciences, Afferent Neurons, Retinal, Cell Biology, medicine.disease, eye diseases, Stargardt disease, Disease Models, Animal, Mutagenesis, Insertional, Ophthalmology, lcsh:Genetics, Microscopy, Fluorescence, chemistry, Cellular Neuroscience, Macular Disorders, Mutation, Amniotes, Animal Studies, biology.protein, Eyes, ATP-Binding Cassette Transporters, sense organs, Head, ATP Binding Cassette Transporter, Subfamily A, Member 4, Neuroscience

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