Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Ramsbottom SA"'
Autor:
Edwards, N, Olinger, E, Adam, J, Kelly, M, Schiano, G, Ramsbottom, SA, Sandford, R, Devuyst, O, Sayer, JA
Heterozygous mutations in $\textit{UMOD}$ encoding the urinary protein uromodulin are the most common genetic cause of autosomal dominant tubulointerstitial kidney disease (ADTKD). We describe the exceptional case of a patient from a consanguineous f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::62b9baf249247fb3c1e35ad2b5dababa
Publikováno v:
Cardiovascular Research; Jul2014, Vol. 103 Issue suppl_1, pS101-S101, 1p
Autor:
Barroso-Gil M; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK., Olinger E; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK., Ramsbottom SA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK., Molinari E; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK., Miles CG; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK., Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK.; Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.; NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle Upon Tyne, UK.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Dec; Vol. 9 (12), pp. e1603. Date of Electronic Publication: 2021 Jan 24.
Autor:
Powell L; Translational and Clinical Research Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK., Barroso-Gil M; Translational and Clinical Research Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK., Clowry GJ; Biosciences Institute, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK., Devlin LA; Translational and Clinical Research Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK., Molinari E; Translational and Clinical Research Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK., Ramsbottom SA; Translational and Clinical Research Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK., Miles CG; Translational and Clinical Research Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK., Sayer JA; Translational and Clinical Research Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK. john.sayer@newcastle.ac.uk.; The Newcastle Hospitals NHS Foundation Trust, Freeman Road, Newcastle upon Tyne, NE7 7DN, UK. john.sayer@newcastle.ac.uk.; National Institute for Health Research Newcastle Biomedical Research Centre, Newcastle upon Tyne, NE4 5PL, UK. john.sayer@newcastle.ac.uk.
Publikováno v:
BMC developmental biology [BMC Dev Biol] 2020 Dec 09; Vol. 20 (1), pp. 26. Date of Electronic Publication: 2020 Dec 09.
Autor:
Devlin LA; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, England, United Kingdom., Ramsbottom SA; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, England, United Kingdom., Overman LM; MRC-Wellcome Trust Human Developmental Biology Resource, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, England, United Kingdom., Lisgo SN; MRC-Wellcome Trust Human Developmental Biology Resource, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, England, United Kingdom., Clowry G; Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, England, United Kingdom., Molinari E; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, England, United Kingdom., Powell L; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, England, United Kingdom., Miles CG; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, England, United Kingdom., Sayer JA; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, England, United Kingdom.; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Freeman Road, Newcastle upon Tyne, England, United Kingdom.; National Institute for Health Research Newcastle Biomedical Research Centre, Newcastle upon Tyne, England, United Kingdom.
Publikováno v:
PloS one [PLoS One] 2020 Jan 28; Vol. 15 (1), pp. e0221914. Date of Electronic Publication: 2020 Jan 28 (Print Publication: 2020).
Autor:
Ramsbottom SA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom., Thelwall PE; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom.; Newcastle Magnetic Resonance Centre, Newcastle University, Newcastle upon Tyne NE4 5PL, United Kingdom., Wood KM; The Histopathology Department, The Newcastle upon Tyne Hospitals National Health Service (NHS) Foundation Trust, Newcastle upon Tyne NE7 7DN, United Kingdom., Clowry GJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom., Devlin LA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom., Silbermann F; Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, 75015 Paris, France., Spiewak HL; Northern Genetics Service, International Centre for Life, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, United Kingdom., Shril S; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115., Molinari E; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom., Hildebrandt F; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115., Gunay-Aygun M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287., Saunier S; Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, 75015 Paris, France., Cordell HJ; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom., Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom; john.sayer@ncl.ac.uk colin.miles@ncl.ac.uk.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.; National Institute for Health Research Newcastle Biomedical Research Centre, Newcastle upon Tyne NE4 5PL, United Kingdom., Miles CG; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom; john.sayer@ncl.ac.uk colin.miles@ncl.ac.uk.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2020 Jan 14; Vol. 117 (2), pp. 1113-1118. Date of Electronic Publication: 2019 Dec 26.
Autor:
Frikstad KM; Department of Radiation Biology, Institute for Cancer Research, OUH-Norwegian Radium Hospital, Oslo, Norway., Molinari E; Newcastle University, Institute of Genetic Medicine, International Centre of Life, Newcastle upon Tyne NE1 3BZ, UK., Thoresen M; Department of Radiation Biology, Institute for Cancer Research, OUH-Norwegian Radium Hospital, Oslo, Norway., Ramsbottom SA; Newcastle University, Institute of Genetic Medicine, International Centre of Life, Newcastle upon Tyne NE1 3BZ, UK., Hughes F; Newcastle University, Institute of Genetic Medicine, International Centre of Life, Newcastle upon Tyne NE1 3BZ, UK., Letteboer SJF; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Gilani S; Department of Radiation Biology, Institute for Cancer Research, OUH-Norwegian Radium Hospital, Oslo, Norway., Schink KO; Department of Molecular Cell Biology, Institute for Cancer Research, OUH-Norwegian Radium Hospital, Oslo, Norway., Stokke T; Department of Radiation Biology, Institute for Cancer Research, OUH-Norwegian Radium Hospital, Oslo, Norway., Geimer S; Cell Biology/Electron Microscopy, University of Bayreuth, Bayreuth, Germany., Pedersen LB; Department of Biology, University of Copenhagen, Copenhagen, Denmark., Giles RH; Department of Nephrology and Hypertension, Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Utrecht, the Netherlands., Akhmanova A; Department of Cell Biology, Faculty of Science, Utrecht University, Utrecht, the Netherlands., Roepman R; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Sayer JA; Newcastle University, Institute of Genetic Medicine, International Centre of Life, Newcastle upon Tyne NE1 3BZ, UK; The Newcastle upon Tyne NHS Foundation Trust, Freeman Road, Newcastle NE7 7DN, UK; Biomedical Research Centre, Newcastle upon Tyne NE4 5PL, UK., Patzke S; Department of Radiation Biology, Institute for Cancer Research, OUH-Norwegian Radium Hospital, Oslo, Norway. Electronic address: sebastip@rr-research.no.
Publikováno v:
Cell reports [Cell Rep] 2019 Aug 13; Vol. 28 (7), pp. 1907-1922.e6.
Autor:
Molinari E; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom., Ramsbottom SA; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom., Srivastava S; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom.; Renal Services, The Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, United Kingdom., Booth P; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom., Alkanderi S; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom., McLafferty SM; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom., Devlin LA; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom., White K; EM Research Services, Newcastle University, Newcastle upon Tyne, United Kingdom., Gunay-Aygun M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA., Miles CG; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom., Sayer JA; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom. john.sayer@newcastle.ac.uk.; Renal Services, The Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, United Kingdom. john.sayer@newcastle.ac.uk.; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, United Kingdom. john.sayer@newcastle.ac.uk.
Publikováno v:
Scientific reports [Sci Rep] 2019 Jul 25; Vol. 9 (1), pp. 10828. Date of Electronic Publication: 2019 Jul 25.
Autor:
Ramsbottom SA; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom., Molinari E; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom., Srivastava S; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom.; Renal Services, The Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE7 7DN, United Kingdom., Silberman F; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France., Henry C; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France., Alkanderi S; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom., Devlin LA; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom., White K; Electron Microscopy Research Services, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom., Steel DH; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom.; Sunderland Eye Infirmary, Sunderland SR2 9HP, United Kingdom., Saunier S; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France., Miles CG; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom; colin.miles@newcastle.ac.uk john.sayer@newcastle.ac.uk., Sayer JA; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom; colin.miles@newcastle.ac.uk john.sayer@newcastle.ac.uk.; Renal Services, The Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE7 7DN, United Kingdom.; National Institute for Health Research Newcastle Biomedical Research Centre, Newcastle upon Tyne NE4 5PL, United Kingdom.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2018 Dec 04; Vol. 115 (49), pp. 12489-12494. Date of Electronic Publication: 2018 Nov 16.
Autor:
Molinari E; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle, NE1 3BZ, UK., Decker E; Center for Human Genetics, Bioscientia, Ingelheim, Germany., Mabillard H; Renal Services, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, NE7 7DN, UK., Tellez J; Northern Genetic Service, Newcastle upon Tyne NHS Foundation Trust, Newcastle, NE1 3BZ, UK., Srivastava S; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle, NE1 3BZ, UK., Raman S; Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK., Wood K; Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK., Kempf C; Department of Pediatric Nephrology, Charité University Hospital, Berlin, Germany., Alkanderi S; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle, NE1 3BZ, UK., Ramsbottom SA; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle, NE1 3BZ, UK., Miles CG; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle, NE1 3BZ, UK., Johnson CA; Faculty of Medicine & Health, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, LS9 7TF, UK., Hildebrandt F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Bergmann C; Center for Human Genetics, Bioscientia, Ingelheim, Germany.; Department of Medicine, University Hospital Freiburg, Freiburg, Germany., Sayer JA; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle, NE1 3BZ, UK. John.sayer@ncl.ac.uk.; Renal Services, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, NE7 7DN, UK. John.sayer@ncl.ac.uk.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2018 Dec; Vol. 26 (12), pp. 1791-1796. Date of Electronic Publication: 2018 Jul 12.