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

وصف الملف: text/xml; application/zip; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6250dd26c9882ae442f52bcf77444e4Test
https://doaj.org/article/518c1db253d74125b19a86fd02a0168cTest

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

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b56de39130002787c59220677042bcb6Test

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

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8d711f3c08450e6f420c472728db4c3Test
http://europepmc.org/articles/PMC6695176Test

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)

مصطلحات موضوعية: Litter (animal), Male, Pathology, medicine.medical_specialty, 040301 veterinary sciences, Urinary system, Norwegian, 0403 veterinary science, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Hereditary ataxia, Dogs, parasitic diseases, medicine, Animals, Dog Diseases, Spinocerebellar Degenerations, General Veterinary, biology, medicine.diagnostic_test, Canine distemper, business.industry, Toxoplasma gondii, 04 agricultural and veterinary sciences, biology.organism_classification, medicine.disease, language.human_language, Neospora caninum, Pedigree, Skin biopsy, language, Female, business, 030217 neurology & neurosurgery

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

المؤلفون: Richard N. Bergman, Markku S. Nieminen, Peter Vollenweider, André G. Uitterlinden, Luigi Ferrucci, Iris M. Heid, Lynda M. Rose, Brenda W.J.H. Penninx, Nicholas G. Martin, Joshua C. Bis, Aaron Isaacs, Jaspal S. Kooner, Gavin Lucas, Caroline Hayward, Masahiro Koseki, Andrew A. Hicks, Maja Barbalić, Marju Orho-Melander, Xueling Sim, James Scott, Manjinder S. Sandhu, Damien C. Croteau-Chonka, Andreas Ziegler, Wilmar Igi, Igor Rudan, Aki S. Havulinna, Leslie A. Lange, Hilma Holm, James G. Wilson, Albert V. Smith, Chiara Sabatti, Candace Guiducci, Paul Elliott, A. Cecile J.W. Janssens, Dorret I. Boomsma, Harry Campbell, Lee M. Kaplan, Ruth J. F. Loos, Robert Luben, Veikko Salomaa, Kyunga Kim, James F. Wilson, Mark Seielstad, Ben A. Oostra, Robert Y.L. Zee, Talin Haritunians, Stacey Gabriel, Michael Boehnke, Ida Surakka, Alex N. Parker, Serena Sanna, Fabio Marroni, Leif Groop, Ingrid B. Borecki, Weihua Zhang, John R. Thompson, Paul M. Ridker, James P. Pirruccello, Nicole Soranzo, Ulf Gyllensten, G. Kees Hovingh, Jian'an Luan, Wendy L. McArdle, Alistair S. Hall, Yurii S. Aulchenko, Thomas Meitinger, John Whitfield, Gonçalo R. Abecasis, Yii-Der Ida Chen, Tien Yin Wong, Deborah A. Nickerson, Jaakko Tuomilehto, Kijoung Song, Reijo Laaksonen, Jeanette Erdmann, Daniel J. Rader, Jing Hua Zhao, Irene Pichler, Robert A. Hegele, Marjo-Riitta Järvelin, Guillaume Paré, Juha Sinisalo, Andrew C. Edmondson, Peter P. Pramstaller, E-Shyong Tai, Vilmundur Gudnason, Linda S. Adair, Min Jin Go, Heather M. Stringham, Nancy L. Pedersen, Bruce M. Psaty, Åsa Johansson, Guillaume Lettre, Tamara B. Harris, Christian Gieger, Toby Johnson, Cornelia M. van Duijn, Samuli Ripatti, Johannes H. Smit, Sigrid W. Fouchier, Gonneke Willemsen, Mark J. Rieder, Nicholas D. Hastie, Leena Peltonen, Jacqueline C. M. Witteman, David Schlessinger, Kiran Musunuru, Eric Boerwinkle, Kay-Tee Khaw, Massimo Mangino, Themistocles L. Assimes, Claudia Langenberg, Yoon Shin Cho, Elena Gonzalez, Eric J.G. Sijbrands, Toshiko Tanaka, Inês Barroso, Vincent Mooser, Eco J. C. de Geus, Karen L. Mohlke, Jaakko Kaprio, Eric E. Schadt, Gudmar Thorleifsson, Nelson B. Freimer, H.-Erich Wichmann, Francis S. Collins, Grant W. Montgomery, John J.P. Kastelein, Inke R. Koenig, Xiuqing Guo, Ruth McPherson, Benjamin F. Voight, Stefania Bandinelli, Sally L. Ricketts, S. Matthijs Boekholdt, Xin Yuan, David Altshuler, Marja-Liisa Lokki, Lori L. Bonnycastle, Aimo Ruokonen, Noël P. Burtt, Unnur Thorsteinsdottir, Markus Perola, Edward G. Lakatta, Serkalem Demissie, Kenechi Ejebe, Muredach P. Reilly, Florian Kronenberg, Panagiotis Deloukas, Gabriel Crawford, Lenore J. Launer, David P. Strachan, Xiaohui Li, Christian Hengstenberg, Olle Melander, Juha Saharinen, Ulf de Faire, Joshua D. Smith, Heribert Schunkert, Thomas Quertermous, Young Jin Kim, Alan R. Tall, Anna F. Dominiczak, Nicholas J. Wareham, Robert Roberts, Mark J. Caulfield, Tanya M. Teslovich, Daniel I. Chasman, Manuela Uda, Jong-Young Lee, Erik Ingelsson, Christopher W. Kuzawa, Jerome I. Rotter, Gina M. Peloso, Christie M. Ballantyne, Mingyao Li, Alan F. Wright, Albert Hofman, Angelo Scuteri, Rick Twee-Hee Ong, L. Adrienne Cupples, Taesung Park, Veronique Vitart, Kaisa Silander, Jouke-Jan Hottenga, Kari Stefansson, Christopher J. O'Donnell, Mary F. Feitosa, Tim D. Spector, Mark I. McCarthy, Nilesh J. Samani, Christopher T. Johansen, David Masson, Cristian Pattaro, Ioannis M. Stylianou, Angela Doering, Patricia B. Munroe, Herman A. Taylor, Patrik K. E. Magnusson, John C. Chambers, Claudia Lamina, Sekar Kathiresan, Dawn M. Waterworth, Jose M. Ordovas, Alan B. Feranil, Cristen J. Willer, Kirsten Ohm Kyvik, Gérard Waeber, Ronald M. Krauss

المساهمون: Medical Research Council (MRC), Psychiatry, EMGO - Mental health, NCA - Anxiety & Depression, Biological Psychology, Neuroscience Campus Amsterdam - Anxiety & Depression, EMGO+ - Mental Health, Experimental Vascular Medicine, Vascular Medicine, ACS - Amsterdam Cardiovascular Sciences, Cardiology, Epidemiology, Internal Medicine, Clinical Genetics

المصدر: Teslovich, T M, Musunuru, K, Smith, A V, Edmondson, A C, Stylianou, I M, Willemsen, G, Uitterlinden, A G, Penninx, B W J H, Montgomery, GW, Martin, N G, Hottenga, J J, de Geus, E J C, Boomsma, D I, van Duijn, C M, Peltonen, L, Abecasis, G R, Boehnke, M & Kathiresan, S 2010, ' Biological, clinical and population relevance of 95 loci for blood lipids ', Nature, vol. 466, no. 7307, pp. 707-713 . https://doi.org/10.1038/nature09270Test
Teslovich, T M, Musunuru, K, Smith, A V, Edmondson, A C, Stylianou, I M, Koseki, M, Pirruccello, J P, Ripatti, S, Chasman, D I, Willer, C J, Johansen, C T, Fouchier, S W, Isaacs, A, Peloso, G M, Barbalic, M, Ricketts, S L, Bis, J C, Aulchenko, Y S, Thorleifsson, G, Feitosa, M F, Chambers, J, Orho-Melander, M, Melander, O, Johnson, T, Li, X, Guo, X, Li, M, Shin Cho, Y, Jin Go, M, Jin Kim, Y, Lee, J-Y, Park, T, Kim, K, Sim, X, Twee-Hee Ong, R, Croteau-Chonka, D C, Lange, L A, Smith, J D, Song, K, Hua Zhao, J, Yuan, X, Luan, J, Lamina, C, Ziegler, A, Zhang, W, Zee, R Y L, Wright, A F, Witteman, J C M, Wilson, J F, Willemsen, G, Wichmann, H-E, Whitfield, J B, Waterworth, D M, Wareham, N J, Waeber, G, Vollenweider, P, Voight, B F, Vitart, V, Uitterlinden, A G, Uda, M, Tuomilehto, J, Thompson, J R, Tanaka, T, Surakka, I, Stringham, H M, Spector, T D, Soranzo, N, Smit, J H, Sinisalo, J, Silander, K, Sijbrands, E J G, Scuteri, A, Scott, J, Schlessinger, D, Sanna, S, Salomaa, V, Saharinen, J, Sabatti, C, Ruokonen, A, Rudan, I, Rose, L M, Roberts, R, Rieder, M, Psaty, B M, Pramstaller, P P, Pichler, I, Perola, M, Penninx, B W J H, Pedersen, N L, Pattaro, C, Parker, A N, Pare, G, Oostra, B A, O'Donnell, C J, Nieminen, M S, Nickerson, D A, Montgomery, G W, Meitinger, T, McPherson, R, McCarthy, M I, McArdle, W, Masson, D, Martin, N G, Marroni, F, Mangino, M, Magnusson, P K E, Lucas, G, Luben, R, Loos, R J F, Lokki, M-L, Lettre, G, Langenberg, C, Launer, L J, Lakatta, E G, Laaksonen, R, Kyvik, K O, Kronenberg, F, König, I R, Khaw, K-T, Kaprio, J, Kaplan, L M, Johansson, A, Jarvelin, M-R, Janssens, A C J W, Ingelsson, E, Igl, W, Kees Hovingh, G, Hottenga, J-J, Hofman, A, Hicks, A A, Hengstenberg, C, Heid, I M, Hayward, C, Havulinna, A S, Hastie, N D, Harris, T B, Haritunians, T, Hall, A S, Gyllensten, U, Guiducci, C, Groop, L C, Gonzalez, E, Gieger, C, Freimer, N B, Ferrucci, L, Erdmann, J, Elliott, P, Ejebe, K G, Döring, A, Dominiczak, A F, Demissie, S, Deloukas, P, de Geus, E J C, de Faire, U, Crawford, G, Collins, F S, Chen, Y I, Caulfield, M J, Campbell, H, Burtt, N P, Bonnycastle, L L, Boomsma, D I, Boekholdt, S M, Bergman, R N, Barroso, I, Bandinelli, S, Ballantyne, C M, Assimes, T L, Quertermous, T, Altshuler, D, Seielstad, M, Wong, T Y, Tai, E-S, Feranil, A B, Kuzawa, C W, Adair, L S, Taylor, H A, Borecki, I B, Gabriel, S B, Wilson, J G, Holm, H, Thorsteinsdottir, U, Gudnason, V, Krauss, R M, Mohlke, K L, Ordovas, J M, Munroe, P B, Kooner, J S, Tall, A R, Hegele, R A, Kastelein, J J P, Schadt, E E, Rotter, J I, Boerwinkle, E, Strachan, D P, Mooser, V, Stefansson, K, Reilly, M P, Samani, N J, Schunkert, H, Cupples, L A, Sandhu, M S, Ridker, P M, Rader, D J, van Duijn, C M, Peltonen, L, Abecasis, G R, Boehnke, M & Kathiresan, S 2010, ' Biological, clinical and population relevance of 95 loci for blood lipids ', Nature, vol. 466, no. 7307, pp. 707-13 . https://doi.org/10.1038/nature09270Test
Nature, 466(7307), 707-713. Nature Publishing Group
Nature
Nature; Vol 466
Teslovich, T M, Musunuru, K, Smith, A V, Edmondson, A C, Stylianou, I M, Koseki, M, Pirruccello, J P, Ripatti, S, Chasman, D I, Willer, C J, Johansen, C T, Fouchier, S W, Isaacs, A, Peloso, G M, Barbalic, M, Ricketts, S L, Bis, J C, Aulchenko, Y S, Thorleifsson, G, Feitosa, M F, Chambers, J, Orho-Melander, M, Melander, O, Johnson, T, Li, X, Guo, X, Li, M, Cho, Y S, Go, M J, Kim, Y J, Lee, J-Y, Park, T, Kim, K, Sim, X, Ong, R T-H, Croteau-Chonka, D C, Lange, L A, Smith, J D, Song, K, Zhao, J H, Yuan, X, Luan, J, Lamina, C, Ziegler, A, Zhang, W, Zee, R Y L, Wright, A, Witteman, J C M, Wilson, J, Willemsen, G, Wichmann, H-E, Whitfield, J B, Waterworth, D M, Wareham, N J, Waeber, G, Vollenweider, P, Voight, B F, Vitart, V, Uitterlinden, A G, Uda, M, Tuomilehto, J, Thompson, J R, Tanaka, T, Surakka, I, Stringham, H M, Spector, T D, Soranzo, N, Smit, J H, Sinisalo, J, Silander, K, Sijbrands, E J G, Scuteri, A, Scott, J, Schlessinger, D, Sanna, S, Salomaa, V, Saharinen, J, Sabatti, C, Ruokonen, A, Rudan, I, Rose, L M, Roberts, R, Rieder, M, Psaty, B M, Pramstaller, P P, Pichler, I, Perola, M, Penninx, B W J H, Pedersen, N L, Pattaro, C, Parker, A N, Pare, G, Oostra, B A, O'Donnell, C J, Nieminen, M S, Nickerson, D A, Montgomery, G W, Meitinger, T, McPherson, R, McCarthy, M I, McArdle, W, Masson, D, Martin, N G, Marroni, F, Mangino, M, Magnusson, P K E, Lucas, G, Luben, R, Loos, R J F, Lokki, M-L, Lettre, G, Langenberg, C, Launer, L J, Lakatta, E G, Laaksonen, R, Kyvik, K O, Kronenberg, F, Koenig, I R, Khaw, K-T, Kaprio, J, Kaplan, L M, Johansson, A, Jarvelin, M-R, Janssens, A C J W, Ingelsson, E, Igi, W, Hovingh, G K, Hottenga, J-J, Hofman, A, Hicks, A A, Hengstenberg, C, Heid, I M, Hayward, C, Havulinna, A S, Hastie, N, Harris, T B, Haritunians, T, Hall, A S, Gyllensten, U, Guiducci, C, Groop, L C, Gonzalez, E, Gieger, C, Freimer, N B, Ferrucci, L, Erdmann, J, Elliott, P, Ejebe, K G, Doering, A, Dominiczak, A F, Demissie, S, Deloukas, P, de Geus, E J C, de Faire, U, Crawford, G, Collins, F S, Chen, Y I, Caulfield, M J, Campbell, H, Burtt, N P, Bonnycastle, L L, Boomsma, D I, Boekholdt, S M, Bergman, R N, Barroso, I, Bandinelli, S, Ballantyne, C M, Assimes, T L, Quertermous, T, Altshuler, D, Seielstad, M, Wong, T Y, Tai, E-S, Feranil, A B, Kuzawa, C W, Adair, L S, Taylor, H A, Borecki, I B, Gabriel, S B, Wilson, J G, Holm, H, Thorsteinsdottir, U, Gudnason, V, Krauss, R M, Mohlke, K L, Ordovas, J M, Munroe, P B, Kooner, J S, Tall, A R, Hegele, R A, Kastelein, J J P, Schadt, E E, Rotter, J I, Boerwinkle, E, Strachan, D P, Mooser, V, Stefansson, K, Reilly, M P, Samani, N J, Schunkert, H, Cupples, L A, Sandhu, M S, Ridker, P M, Rader, D J, van Duijn, C M, Peltonen, L, Abecasis, G R, Boehnke, M & Kathiresan, S 2010, ' Biological, clinical and population relevance of 95 loci for blood lipids ', Nature, vol. 466, no. 7307, pp. 707-713 . https://doi.org/10.1038/nature09270Test

مصطلحات موضوعية: Male, Netherlands Twin Register (NTR), genetics/metabolism, Blood lipids, Genome-wide association study, KLF14, Coronary Artery Disease, 030204 cardiovascular system & hematology, blood/genetics/therapy, DISEASE, chemistry.chemical_compound, Mice, African Americans, genetics, Animals, Asian Continental Ancestry Group, genetics, Cholesterol, HDL, blood, Cholesterol, LDL, blood, Coronary Artery Disease, blood/genetics/therapy, Europe, ethnology, European Continental Ancestry Group, genetics, Female, Genetic Loci, genetics, Genome-Wide Association Study, Genotype, Humans, Lipid Metabolism, genetics, Lipids, blood, Liver, metabolism, Male, Mice, N-Acetylgalactosaminyltransferases, genetics/metabolism, Phenotype, Polymorphism, Single Nucleotide, genetics, Protein Phosphatase 1, genetics/metabolism, Reproducibility of Results, Triglycerides, blood, 0302 clinical medicine, Protein Phosphatase 1, genetics, Genetics, RISK, 0303 health sciences, education.field_of_study, Multidisciplinary, CHOLESTEROL, Genomics, Lipids, 3. Good health, Multidisciplinary Sciences, Europe, Phenotype, Liver, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Science & Technology - Other Topics, N-Acetylgalactosaminyltransferases, Female, lipids (amino acids, peptides, and proteins), lipids, gwas, TRAITS, Asian Continental Ancestry Group, Genotype, General Science & Technology, Population, European Continental Ancestry Group, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Article, White People, 03 medical and health sciences, Asian People, SDG 3 - Good Health and Well-being, Animals, Humans, Polymorphism, GENOME-WIDE ASSOCIATION, education, Triglycerides, 030304 developmental biology, ethnology, Science & Technology, Cholesterol, Cholesterol, HDL, Reproducibility of Results, Lipid metabolism, Cholesterol, LDL, Lipid Metabolism, SCARB1, Black or African American, chemistry, Genetic Loci, metabolism, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b75db0a9c47a2bcf03fc20b4b542b0dTest
https://doi.org/10.1038/nature09270Test

المؤلفون: Maria Kaukonen, Cathryn S. Mellersh, Saija Ahonen, András M. Komáromy, Olivia Dower-Tylee, Hannes Lohi, Louise Pettitt, Richard Everson, Bryan McLaughlin, Oliver P. Forman, Sally L. Ricketts, Jane Sansom

المساهمون: Research Programs Unit, Veterinary Biosciences, University of Helsinki, Departments of Faculty of Veterinary Medicine, Hannes Tapani Lohi / Principal Investigator, Veterinary Genetics

المصدر: PLoS ONE, Vol 12, Iss 8, p e0183021 (2017)
PLoS ONE
Everson, R, Pettitt, L, Forman, O P, Dower-Tylee, O, McLaughlin, B, Ahonen, S, Kaukonen, M, Komáromy, A M, Lohi, H, Mellersh, C S, Sansom, J & Ricketts, S L 2017, ' An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs ', PLoS ONE, vol. 12, no. 8, e0183021 . https://doi.org/10.1371/journal.pone.0183021Test

مصطلحات موضوعية: 0301 basic medicine, Gene Expression, lcsh:Medicine, Genome-wide association study, RECEPTOR TYROSINE KINASE, CONE-ROD DYSTROPHY, 413 Veterinary science, Database and Informatics Methods, 0302 clinical medicine, ELEMENTS, Medicine and Health Sciences, lcsh:Science, MUTATION, Finland, Mammals, Genetics, Progressive retinal atrophy, Mammalian Genomics, Multidisciplinary, Pets and Companion Animals, Genomics, DEGENERATION, Chromosome 17 (human), MERTK Gene, Vertebrates, Retinal Disorders, RCS RAT, PROGRESSIVE RETINAL ATROPHY, Sequence Analysis, Research Article, Retinopathy, Genotype, Bioinformatics, Animal Types, Biology, Research and Analysis Methods, Genome Complexity, Polymorphism, Single Nucleotide, 03 medical and health sciences, Dogs, Retinal Diseases, Proto-Oncogene Proteins, RETINITIS-PIGMENTOSA, Retinitis pigmentosa, Genome-Wide Association Studies, medicine, Intronic Mutation, Animals, DELETION, lcsh:R, Organisms, Biology and Life Sciences, Computational Biology, Receptor Protein-Tyrosine Kinases, Human Genetics, MERTK, Genome Analysis, medicine.disease, GENE, Introns, United Kingdom, Ophthalmology, Mutagenesis, Insertional, Long Interspersed Nucleotide Elements, 030104 developmental biology, Animal Genomics, Amniotes, lcsh:Q, Zoology, Sequence Alignment, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d5cac3fc637ce2b45046bccd5182868Test
https://doi.org/10.1371/journal.pone.0183021Test

المؤلفون: F. Gerald R. Fowkes, Martin Bobak, Veronika M. Shmeleva, Osvaldo P. Almeida, Andrew B. Singleton, Aroon D. Hingorani, Luigi Ferrucci, Manjinder S. Sandhu, John Hardy, Leon Flicker, Mark Roest, Hiroshi Shimokata, Jaroslav A. Hubacek, Michael Linnebank, Debbie A Lawlor, Leonelo E. Bautista, Philippa J. Talmud, Steve E. Humphries, John C. Whittaker, Jackie F. Price, Frank M. van Bockxmeer, Paul Norman, Stephen S. Rich, Jonathan A C Sterne, Liam Smeeth, Monique M.B. Breteler, Ale Algra, Sally L. Ricketts, Mar Matarin, George Davey Smith, Pankaj Sharma, Juan P. Casas, Jackie A. Cooper, Mike A. Nalls, Michael V. Holmes, Reecha Sofat, Cornelia M. van Duijn, Kay-Tee Khaw, Jeppe Zacho, Zoltan Szolnoki, James F. Meschia, Shah Ebrahim, Graeme J. Hankey, Bradford B. Worrall, Paul J. Newcombe, Nicholas J. Wareham

المساهمون: Epidemiology, Cardiology, University of Zurich, Casas, J P

المصدر: Lancet (UK), 378(9791), 584-594. Elsevier Ltd.
Holmes, M V, Newcombe, P, Hubacek, J A, Sofat, R, Ricketts, S L, Cooper, J, Breteler, M M B, Bautista, L E, Sharma, P, Whittaker, J C, Smeeth, L, Fowkes, F, Algra, A, Shmeleva, V, Szolnoki, Z, Roest, M, Linnebank, M, Zacho, J, Nalls, M A, Singleton, A B, Ferrucci, L, Hardy, J, Worrall, B B, Rich, S S, Matarin, M, Norman, P E, Flicker, L, Almeida, O P, van Bockxmeer, F M, Shimokata, H, Khaw, K-T, Wareham, N J, Bobak, M, Sterne, J A C, Smith, G D, Talmud, P J, van Duijn, C, Humphries, S E, Price, J F, Ebrahim, S, Lawlor, D A, Hankey, G J, Meschia, J F, Sandhu, M S, Hingorani, A D & Casas, J P 2011, ' Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk : a meta-analysis of genetic studies and randomised trials ', The Lancet, vol. 378, no. 9791, pp. 584-94 . https://doi.org/10.1016/S0140-6736Test(11)60872-6
The lancet 378(9791), 584-594 (2011). doi:10.1016/S0140-6736(11)60872-6
Lancet

مصطلحات موضوعية: Homocysteine, 2700 General Medicine, 030204 cardiovascular system & hematology, Transient ischaemic attacks, chemistry.chemical_compound, 0302 clinical medicine, Risk Factors, Medicine, Stroke, Randomized Controlled Trials as Topic, education.field_of_study, biology, Articles, General Medicine, 3. Good health, administration & dosage [Vitamin B Complex], genetics [Stroke], Vitamin B Complex, prevention & control [Stroke], medicine.medical_specialty, blood [Homocysteine], Population, 610 Medicine & health, administration & dosage [Folic Acid], genetics [Methylenetetrahydrofolate Reductase (NADPH2)], 03 medical and health sciences, Folic Acid, Meta-Analysis as Topic, Internal medicine, genetics [Homocysteine], Humans, ddc:610, education, Methylenetetrahydrofolate Reductase (NADPH2), Polymorphism, Genetic, business.industry, Odds ratio, medicine.disease, 10040 Clinic for Neurology, Surgery, B vitamins, blood [Stroke], chemistry, Methylenetetrahydrofolate reductase, Relative risk, Dietary Supplements, biology.protein, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf; 1-s2.0-S0140673611608726-main.pdf - application/pdf; Linnebank_Lancet.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5771d0ce1279426537284afadcbf2d41Test
https://pure.eur.nl/en/publications/681501cf-285e-4337-b124-12296a8cbfceTest

المؤلفون: Paul W. Franks, Manjinder S. Sandhu, Alan Permutt, Allan Daly, Mark I. McCarthy, Nicholas J. Wareham, Eleanor Wheeler, Benjamin Glaser, Andrew T. Hattersley, Katherine A. Fawcett, Göran Hallmans, Andrew P. Morris, Inês Barroso, Olov Rolandsson, Jon Wasson, Sally L. Ricketts

المصدر: Diabetes

مصطلحات موضوعية: Heterozygote, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Single-nucleotide polymorphism, Type 2 diabetes, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Genetic variation, Genotype, Internal Medicine, medicine, Genetics, Humans, Risk factor, 030304 developmental biology, 0303 health sciences, Haplotype, Case-control study, Chromosome Mapping, Genetic Variation, Membrane Proteins, Exons, medicine.disease, United Kingdom, Large sample, Diabetes Mellitus, Type 2, Haplotypes, Case-Control Studies, RNA Splice Sites

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26ddd6fd49ad4c64ebb1676e2542ac3aTest
https://pubmed.ncbi.nlm.nih.gov/20028947Test

المؤلفون: Erik S.G. Stroes, Rakesh S. Birjmohun, J. Wouter Jukema, Menno Vergeer, Manjinder S. Sandhu, Sally L. Ricketts, Michael W.T. Tanck, John J.P. Kastelein, Kay-Tee Khaw, S. Matthijs Boekholdt, Nicholas J. Wareham

المساهمون: Other departments, Amsterdam Cardiovascular Sciences, Vascular Medicine, Amsterdam Public Health, Epidemiology and Data Science, Cardiology, Faculteit der Geneeskunde

المصدر: PLoS ONE
PLoS ONE, Vol 4, Iss 8, p e6809 (2009)
PLoS ONE, 4(8). Public Library of Science
PLoS ONE, 4(8):e6809. Public Library of Science

مصطلحات موضوعية: Male, medicine.medical_specialty, Apolipoprotein B, Genotype, Cardiovascular Disorders, Cardiovascular Disorders/Coronary Artery Disease, lcsh:Medicine, Coronary Artery Disease, 030204 cardiovascular system & hematology, Coronary artery disease, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Internal medicine, medicine, Humans, Cardiovascular Disorders/Vascular Biology, Genetic Predisposition to Disease, lcsh:Science, 030304 developmental biology, Aged, 0303 health sciences, Multidisciplinary, Polymorphism, Genetic, biology, Aryldialkylphosphatase, lcsh:R, Case-control study, Paraoxonase, Odds ratio, Middle Aged, medicine.disease, PON1, Endocrinology, Quartile, Austria, Case-Control Studies, biology.protein, Cardiology, Population study, lcsh:Q, Female, Cardiovascular Disorders/Myocardial Infarction, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8b55616449ad77b46a38b3ac5632ff6Test
http://europepmc.org/articles/PMC2728540Test

المؤلفون: Gérard Waeber, Robert Sladek, Nicholas J. Timpson, Luigi Ferrucci, James B. Meigs, David M. Evans, Marie-France Hivert, George Davey Smith, John E. Deanfield, J. Brent Richards, Joseph M. Devaney, Beate Glaser, Toshiko Tanaka, Ruth J. F. Loos, Claudia Langenberg, Christina Willenborg, Christian Hengstenberg, Stephen O'Rahilly, Peter Vollenweider, Klaus Stark, John R. B. Perry, Jaquelin C. M. Witteman, Vincent Mooser, Ruth McPherson, Sally L. Ricketts, Nuno Rocha, Naveed Sattar, Muredach P. Reilly, Scott M. Grundy, Elin Grundberg, Alexandre F.R. Stewart, Keith Burling, Janina Winogradow, Robert K. Semple, Nicole Soranzo, Stephen E. Epstein, Martina Grassl, Mary-Susan Burnett, Robert W. Mahley, John R. Thompson, Nicholas J. Wareham, Josée Dupuis, David Melzer, Richa Saxena, Yurii S. Aulchenko, Panos Deloukas, Josephine M. Egan, Jose C. Florez, H-Erich Wichmann, Wibke Reinhard, Tim D. Spector, Dawn M. Waterworth, Daniel J. Rader, Cornelia M. van Duijn, Nilesh J. Samani, Inke R. König, Inga Prokopenko, Aroon D. Hingorani, Tomi Pastinen, Timothy M. Frayling, Heribert Schunkert, Y. Antero Kesäniemi, Phil Barter, Kijoung Song, Jeanette Erdmann, Alistair S. Hall

المساهمون: Ophthalmology, Epidemiology, Song Kijoung)

المصدر: PLoS Genetics (print), 5(12). Public Library of Science
Scopus-Elsevier
PLoS Genetics, Vol 5, Iss 12, p e1000768 (2009)
PLoS Genetics
PLoS genetics
PLoS Genetics, vol. 5, no. 12, pp. 1000768
e1000768
PLoS Genetics; Vol 5

مصطلحات موضوعية: Male, Cancer Research, medicine.medical_specialty, European community, lcsh:QH426-470, Study research, 030209 endocrinology & metabolism, Coronary Disease, Biology, Polymorphism, Single Nucleotide, German, Diabetes and Endocrinology/Obesity, 03 medical and health sciences, 0302 clinical medicine, Framingham Heart Study, SDG 3 - Good Health and Well-being, Genetics, medicine, GIANT Consortium, Humans, Genetic Predisposition to Disease, Cardiovascular Disorders/Congenital Heart Disease, Diabetes and Endocrinology/Type 2 Diabetes, General hospital, Molecular Biology, Genetics (clinical), Ecology, Evolution, Behavior and Systematics, Genetics and Genomics/Genetics of Disease, 030304 developmental biology, 0303 health sciences, 0604 Genetics, Molecular-Weight Adiponectin, Bone-Mineral Density, Small G-Proteins, Insulin-Resistance, Plasma Adiponectin, Metabolic Syndrome, Circulating Adiponectin, Myocardial-Infarction, Serum Concentration, APM1 Gene, Colaus Study, nutritional and metabolic diseases, medicine.disease, Medical research, Obesity, language.human_language, lcsh:Genetics, Diabetes Mellitus, Type 2, Research centre, Family medicine, language, Female, Adiponectin, Developmental Biology, Genome-Wide Association Study, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad2548b3c8b2a671f64949d2a2bb0676Test
https://pure.eur.nl/en/publications/e3e13dea-74a7-4074-8b19-9debd7ad67ffTest