Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Sansbury, FH"'
Autor:
Wright, CF, Quaife, NM, Ramos-Hernández, L, Danecek, P, Ferla, MP, Samocha, KE, Kaplanis, J, Gardner, EJ, Eberhardt, RY, Chao, KR, Karczewski, KJ, Morales, J, Gallone, G, Balasubramanian, M, Banka, S, Gompertz, L, Kerr, B, Kirby, A, Lynch, SA, Morton, JEV, Pinz, H, Sansbury, FH, Stewart, H, Zuccarelli, BD, Consortium, Genomics England Research, Cook, SA, Taylor, JC, Juusola, J, Retterer, K, Firth, HV, Hurles, ME, Lara-Pezzi, E, Barton, PJR, Whiffin, N
Publikováno v:
Am J Hum Genet
Genomics England Research Consortium 2021, ' Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1083-1094 . https://doi.org/10.1016/j.ajhg.2021.04.025
Genomics England Research Consortium 2021, ' Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1083-1094 . https://doi.org/10.1016/j.ajhg.2021.04.025
Clinical genetic testing of protein-coding regions identifies a likely causative variant in only around half of developmental disorder (DD) cases. The contribution of regulatory variation in non-coding regions to rare disease, including DD, remains v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5e16a87ad0288d35265ae7a6ad3db8b
https://europepmc.org/articles/PMC8206381/
https://europepmc.org/articles/PMC8206381/
Autor:
Jeremy J. Lambert, McPhail P, John A. Peters, Sansbury Fh, Muntoni A, Hutchinson Ej, Bennett Dj, Donald F. M. Stevenson, Maurice S. Maidment, Alison Anderson, Feilden H, Miller S, Ross McGuire, Cooke A, Delia Belelli, Buchanan Ki, Casula A, Sundaram H, Gemmell Dk, Hamilton Nm
Publikováno v:
Journal of medicinal chemistry. 44(22)
In the search for a novel water-soluble general anesthetic agent the activity of an alpha-amino acid phenolic ester lead, identified from patent literature, was markedly improved. In addition to improving in vivo activity in mice, good in vitro activ
Akademický článek
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Autor:
Harris EL; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Roy V; Département de Biochimie et Génomique Fonctionnelle, PROTÉO et Institut de Pharmacologie de Sherbrooke. University of Sherbrooke, Sherbrooke, QC, Canada., Montagne M; Département de Biochimie et Génomique Fonctionnelle, PROTÉO et Institut de Pharmacologie de Sherbrooke. University of Sherbrooke, Sherbrooke, QC, Canada., Rose AMS; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Livesey H; Leeds Teaching Hospitals NHS Trust, Leeds, UK; All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Cardiff, UK., Reijnders MRF; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Hobson E; Leeds Teaching Hospitals NHS Trust, Leeds, UK., Sansbury FH; All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Cardiff, UK., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Warren D; Leeds Teaching Hospitals NHS Trust, Leeds, UK., Long V; Leeds Teaching Hospitals NHS Trust, Leeds, UK., Carr IM; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Sheridan EG; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK; Leeds Teaching Hospitals NHS Trust, Leeds, UK., Firth HV; Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK; Wellcome Sanger Institute, Hinxton, Cambridge, UK., Lavigne P; Département de Biochimie et Génomique Fonctionnelle, PROTÉO et Institut de Pharmacologie de Sherbrooke. University of Sherbrooke, Sherbrooke, QC, Canada. Electronic address: pierre.lavigne@usherbrooke.ca., Poulter JA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK. Electronic address: j.a.poulter@leeds.ac.uk.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Jan 04; Vol. 111 (1), pp. 119-132. Date of Electronic Publication: 2023 Dec 22.
Autor:
Lee S; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK., Menzies L; Department of Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK., Hay E; Department of Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK., Ochoa E; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK., Docquier F; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK.; Stratified Medicine Core Laboratory NGS Hub, Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Rodger F; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK.; Stratified Medicine Core Laboratory NGS Hub, Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Deshpande C; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK., Foulds NC; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Jacquemont S; CHU Sainte-Justine Research Centre, Montreal, Quebec, Canada.; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada., Jizi K; CHU Sainte-Justine Research Centre, Montreal, Quebec, Canada., Kiep H; Department of Neuropediatrics, University Hospital for Children and Adolescents, Leipzig, Germany., Kraus A; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK., Löhner K; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Morrison PJ; Patrick G Johnston Centre for Cancer Research and Cell Biology, Queens University Belfast, Belfast, UK., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center of Functional Genomics, Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Berlin, Germany., Richardson R; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK., van Haeringen A; Department of Clinical Genetics, Leiden University Hospital, Leiden, The Netherlands., Martin E; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK.; Stratified Medicine Core Laboratory NGS Hub, Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Toribio A; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK.; Stratified Medicine Core Laboratory NGS Hub, Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Li F; MOE Key Laboratory for Cellular Dynamics, The School of Life Sciences, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui 230026, China., Jones WD; Department of Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK., Sansbury FH; All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board and Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, UK., Maher ER; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2023 Nov 03; Vol. 32 (22), pp. 3123-3134.
Autor:
Edgerley K; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Bryson L; Department of Clinical Genetics, NHS Greater Glasgow and Clyde, Glasgow, UK., Hanington L; Department of Clinical Genetics, Oxford Regional Genetics Service, Oxford, UK., Irving R; Department of All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Cardiff, UK., Joss S; Department of Clinical Genetics, NHS Greater Glasgow and Clyde, Glasgow, UK., Lampe A; Department of Clinical Genetics, South East of Scotland Clinical Genetics Service, Edinburgh, UK., Maystadt I; Department of Clinical Genetics, Institute of Pathology and Genetics, Charleroi, Belgium., Osio D; Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Richardson R; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Split M; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Sansbury FH; Department of All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Cardiff, UK., Scurr I; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Stewart H; Department of Clinical Genetics, Oxford Regional Genetics Service, Oxford, UK., McNeil A; Department of Clinical Genetics, University of Sheffield, Sheffield, UK., Low K; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; Department of Academic Child Health, University of Bristol, Bristol, UK.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 May; Vol. 191 (5), pp. 1447-1458. Date of Electronic Publication: 2023 Mar 02.
Autor:
Hamad A; West Midlands Genetics Services, Birmingham Women and Childrens NHS Foundation Trust, Birmingham. UK., Sherlaw-Sturrock CA; West Midlands Genetics Services, Birmingham Women and Childrens NHS Foundation Trust, Birmingham. UK., Glover K; West Midlands Genetics Services, Birmingham Women and Childrens NHS Foundation Trust, Birmingham. UK., Salmon R; West Midlands Genetics Services, Birmingham Women and Childrens NHS Foundation Trust, Birmingham. UK., Low K; Clinical Genetics Department, University Hospitals Bristol and Weston NHS Foundation Trust St Michael's Hospital, Bristol, UK., Nair R; West Midlands Genetics Services, Birmingham Women and Childrens NHS Foundation Trust, Birmingham. UK., Sansbury FH; Clinical Genetics Department, University Hospitals Bristol and Weston NHS Foundation Trust St Michael's Hospital, Bristol, UK; All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK., Rawlins L; Peninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Carmichael J; Clinical Genetics Department, Oxford Centre for Genomic Medicine, Oxford, UK; Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK., Horton R; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Wedderburn S; West of Scotland Centre for Genomic Medicine, Glasgow, UK., Edgerley K; Clinical Genetics Department, University Hospitals Bristol and Weston NHS Foundation Trust St Michael's Hospital, Bristol, UK., Irving R; Peninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Callaghan M; Peninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Mercer C; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK., McGowan R; West of Scotland Centre for Genomic Medicine, Glasgow, UK., Robert L; Clinical Genetics Department, Guy's and St Thomas' Hospital, London, UK., Titheradge H; West Midlands Genetics Services, Birmingham Women and Childrens NHS Foundation Trust, Birmingham. UK. Electronic address: h.titheradge.1@bham.ac.uk., Naik S; West Midlands Genetics Services, Birmingham Women and Childrens NHS Foundation Trust, Birmingham. UK.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2023 Apr; Vol. 66 (4), pp. 104714. Date of Electronic Publication: 2023 Jan 29.