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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
Autor: Ram L. Kumar, Marjo S. van der Knaap, Sanjeev S. Bhaskar, Pierre-Yves Jeannet, John B.P. Stephenson, Gillian I. Rice, Joel Victor Fluss, James O'Sullivan, Raphael Schiffmann, Johannes A. Buckard, Andrea Whitney, Riyana Babul-Hirji, Catheline Vilain, Beverley Anderson, Yanick J. Crow, Emma M. Jenkinson, Gunnar Houge, Ewan Forrest, Vanessa Wermenbol, Peter Baxter, Sarah B. Daly, Marcin Szynkiewicz, Joanne Muter, Rosalind J. Jefferson, Wui K. Chong, Elisabeth Oppliger Leibundgut, Gabriela M. Baerlocher, Stefan Meyer, Jonathan E. Dickerson, Ramesh Mehta, Emma Wakeling, Sarah Risen, José Pedro Vieira, Sakkubai Naidu, Andrea Berger, Calvin Soh, John H. Livingston, David Chitayat, Staffan Lundberg, Simon C. Lovell, Luís Catela Nunes, Helen Stewart, Graeme C.M. Black, John Tolmie, Janice E Brunstom-Hernandez, Jill E. Urquhart, Josephine Mayer, Ghada M H Abdel-Salem, Paul R. Kasher, Charles Marques Lourenço, Simon Hammans, Emilio Franzoni, Caterina Garone, Katrin Õunap, Duccio Maria Cordelli, Prab Prabhakar, Ken K. Nischal, Luisa Bonafé, Michel Philippart, Sébastien Jacquemont, Patrick Ferreira, Imelda Hughes, Jon Stone, Georg Kutschke
Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Nature Genetics, Vol. 44, No 3 (2012) pp. 338-42
Anderson, B H, Kasher, P R, Mayer, J, Szynkiewicz, M, Jenkinson, E M, Bhaskar, S S, Urquhart, J E, Daly, S B, Dickerson, J E, O'Sullivan, J, Leibundgut, E O, Muter, J, Abdel-Salem, G M H, Babul-Hirji, R, Baxter, P, Berger, A, Bonafe, L, Brunstom-Hernandez, J E, Buckard, J A, Chitayat, D, Chong, W K, Cordelli, D M, Ferreira, P, Fluss, J, Forrest, E H, Franzoni, E, Garone, C, Hammans, S R, Houge, G, Hughes, I, Jacquemont, S, Jeannet, P Y, Jefferson, R J, Kumar, R, Kutschke, G, Lundberg, S, Lourenco, C M, Mehta, R, Naidu, S, Nischal, K K, Nunes, L, Ounap, K, Philippart, M, Prabhakar, P, Risen, S R, Schiffmann, R, Soh, C, Stephenson, J B P, Stewart, H, Stone, J, Tolmie, J L, van der Knaap, M S, Vieira, J P, Vilain, C N, Wakeling, E L, Wermenbol, V, Whitney, A, Lovell, S C, Meyer, S, Livingston, J H, Baerlocher, G M, Black, G C M, Rice, G I & Crow, Y J 2012, ' Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus ', Nature Genetics, vol. 44, no. 3, pp. 338-U1604 . https://doi.org/10.1038/ng.1084
Nature Genetics, 44(3), 338-U1604. Nature Publishing Group
Nature genetics, 44(3), 338-342. Nature Publishing Group
Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mam
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69ec98cf3e088c4ccfd4d170009ff51a
https://hdl.handle.net/1871/42513
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Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.
Autor: Smith TB; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Kopajtich R; Institute of Human Genetics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, 85764, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, 81675, Germany., Demain LAM; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Rea A; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Thomas HB; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Schiff M; Université Paris Cité, Reference Center for Mitochondrial Disorders (CARAMMEL) and Reference Center Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Filière G2M, Paris, France.; Inserm UMR_S1163, Institut Imagine, Université Paris Cité, Paris, France., Beetz C; Centogene GmbH, Rostock, Germany., Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Conway GS; Institute for Women's Health, University College London, London, United Kingdom., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Yeole M; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Radhakrishnan P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Azzouz H; Service de pédiatrie et des maladies métaboliques héréditaires, CHU la Rabta, 1007 Jabberi, Tunis, Tunisia., Ben Chehida A; Service de pédiatrie et des maladies métaboliques héréditaires, CHU la Rabta, 1007 Jabberi, Tunis, Tunisia., Elmaleh-Bergès M; Service de Radiologie Pédiatrique, Hôpital Robert-Debré, APHP, Paris, France., Glasgow RIC; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 65, Stockholm, Sweden., Thompson K; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Oláhová M; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Department of Applied Sciences, Faculty of Health & Life Sciences, Northumbria University, Newcastle upon Tyne, UK., He L; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK., Jenkinson EM; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Jahic A; Institute of Diagnostic Laboratory Medicine, Clinical Chemistry and Pathobiochemistry, Charité - Universitätsmedizin Berlin, Berlin, Germany., Belyantseva IA; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892-3729, USA., Barzik M; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892-3729, USA., Urquhart JE; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., O' Sullivan J; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Williams SG; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Bhaskar SS; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Carrera S; Genome Editing Unit, The University of Manchester, Manchester, M13 9PT, UK., Blakes AJM; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Yue WW; Newcastle University Biosciences Institute, Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK., Ellingford JM; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK.; Genomics England, London, UK., Houlden H; Department of Molecular Neuroscience, UCL Queen Square Institute of Neurology, London, United Kingdom., Munro KJ; Manchester Centre for Audiology and Deafness (ManCAD), School of Health Sciences, The University of Manchester, Manchester, UK., Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892-3729, USA., Taylor RW; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK., Prokisch H; Institute of Human Genetics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, 85764, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, 81675, Germany., O'Keefe RT; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Newman WG; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK.
Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Aug 21. Date of Electronic Publication: 2024 Aug 21.
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