Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Boustred, CR"'
Autor:
Pagnamenta, AT, Jackson, A, Perveen, R, Beaman, G, Petts, G, Gupta, A, Hyder, Z, Chung, BH, Kan, AS, Cheung, KW, Kerstjens‐Frederikse, WS, Abbott, KM, Ambrose, JC, Arumugam, P, Bevers, R, Bleda, M, Boardman‐Pretty, F, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Elgar, G, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, TJP, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, SEA, Leong, IUS, Lopez, JF, Maleady‐Crowe, F, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, O′Donovan, P, Odhams, CA, Patch, C, Pereira, MB, Perez‐Gil, D, Pullinger, J, Rahim, T
Publikováno v:
Clinical Genetics, 101(1), 127-133. Wiley
Genomics England Research Consortium 2021, ' Biallelic TMEM260 variants cause Truncus Arteriosus, with or without renal defects ', Clinical Genetics . https://doi.org/10.1111/cge.14071
Genomics England Research Consortium 2021, ' Biallelic TMEM260 variants cause Truncus Arteriosus, with or without renal defects ', Clinical Genetics . https://doi.org/10.1111/cge.14071
Only two families have been reported with biallelic TMEM260 variants segregating with structural heart defects and renal anomalies syndrome (SHDRA). With a combination of genome, exome sequencing and RNA studies, we identified eight individuals from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c58d901ed71759167989e288517a3e14
https://research.rug.nl/en/publications/e564d3dc-f07b-49e8-9cf5-2e74c7a70c53
https://research.rug.nl/en/publications/e564d3dc-f07b-49e8-9cf5-2e74c7a70c53
Autor:
Choi DJ; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX, USA., Armstrong G; Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA., Lozzi B; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX, USA., Vijayaraghavan P; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Plon SE; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA., Wong TC; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Boerwinkle E; The University of Texas Health Science Center School of Public Health, Houston, TX, USA., Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Chen HC; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Ostrom QT; Department of Neurosurgery, Duke University School of Medicine, Durham, NC, USA., Melin B; Department of Radiation Sciences, Oncology, Umeå University, Umeå, Sweden., Deneen B; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX, USA., Bondy ML; Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA., Bainbridge MN; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Amos CI, Barnholtz-Sloan JS, Bernstein JL, Claus EB, Houlston RS, Il'yasova D, Jenkins RB, Johansen C, Lachance D, Lai R, Melin BS, Merrell RT, Olson SH, Sadetzki S, Schildkraut J, Shete S, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Brown MA, Caulfield MJ, Chan GC, Giess A, Griffin JN, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Lakey A, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Mitchell J, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM, Zarowiecki M
Publikováno v:
Science advances [Sci Adv] 2023 Apr 28; Vol. 9 (17), pp. eade2675. Date of Electronic Publication: 2023 Apr 28.
Autor:
Shoemark A; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee, UK a.shoemark@dundee.ac.uk.; Royal Brompton Hospital and NHLI, Imperial College London, London, UK.; Newcastle University and NIHR Biomedical Research Centre for Ageing, Freeman Hospital, Newcastle upon Tyne, UK., Griffin H; Primary Immunodeficiency Group, Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.; Newcastle University and NIHR Biomedical Research Centre for Ageing, Freeman Hospital, Newcastle upon Tyne, UK., Wheway G; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Hogg C; Royal Brompton Hospital and NHLI, Imperial College London, London, UK., Lucas JS; Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UK., Camps C; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Clinical Informatics Research Office, John Radcliffe Hospital, Oxford, UK., Taylor J; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Clinical Informatics Research Office, John Radcliffe Hospital, Oxford, UK., Carroll M; Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Loebinger MR; Royal Brompton Hospital and NHLI, Imperial College London, London, UK., Chalmers JD; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee, UK., Morris-Rosendahl D; Clinical Genetics and Genomics, Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust and NHLI, Imperial College London, London, UK., Mitchison HM; Genetics and Genomic Medicine Department, University College London, UCL Great Ormond Street Institute of Child Health, London, UK.; These authors contributed equally to this manuscript., De Soyza A; Newcastle University and NIHR Biomedical Research Centre for Ageing, Freeman Hospital, Newcastle upon Tyne, UK.; These authors contributed equally to this manuscript., Brown D, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM
Publikováno v:
The European respiratory journal [Eur Respir J] 2022 Nov 17; Vol. 60 (5). Date of Electronic Publication: 2022 Nov 17 (Print Publication: 2022).
Autor:
Alharbi KK; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, P.O. Box 10219, Riyadh 11433, Saudi Arabia., Richardson TG; MRC Integrative Epidemiology Unit, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK ; Bristol Genetic Epidemiology Laboratories, Department of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK., Khan IA; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, P.O. Box 10219, Riyadh 11433, Saudi Arabia., Syed R; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, P.O. Box 10219, Riyadh 11433, Saudi Arabia., Mohammed AK; Biomarkers Research Program, Biochemistry Department, College of Science, King Saud University, P.O. Box 2455, Riyadh 11451, Saudi Arabia ; Prince Mutaib Chair for Biomarkers of Osteoporosis, Biochemistry Department, King Saud University, P.O. Box 2455, Riyadh 11451, Saudi Arabia., Boustred CR; Bristol Genetic Epidemiology Laboratories, Department of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK., Gaunt TR; MRC Integrative Epidemiology Unit, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK ; Bristol Genetic Epidemiology Laboratories, Department of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK., Tamimi W; Department of Pathology and Laboratory Medicine (1122), King Fahad National Guard Hospital, King Saud Bin Abdulaziz University for Health Sciences, P.O. Box 22490, Riyadh 11426, Saudi Arabia., Al-Daghri NM; Biomarkers Research Program, Biochemistry Department, College of Science, King Saud University, P.O. Box 2455, Riyadh 11451, Saudi Arabia ; Prince Mutaib Chair for Biomarkers of Osteoporosis, Biochemistry Department, King Saud University, P.O. Box 2455, Riyadh 11451, Saudi Arabia., Day IN; Bristol Genetic Epidemiology Laboratories, Department of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK.
Publikováno v:
Disease markers [Dis Markers] 2014; Vol. 2014, pp. 758232. Date of Electronic Publication: 2014 Nov 17.
Autor:
Alsaadi MM; College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia., Gaunt TR, Boustred CR, Guthrie PA, Liu X, Lenzi L, Rainbow L, Hall N, Alharbi KK, Day IN
Publikováno v:
Annals of human genetics [Ann Hum Genet] 2012 May; Vol. 76 (3), pp. 211-20. Date of Electronic Publication: 2012 Mar 02.
Autor:
Alharbi KK; Clinical Laboratory Sciences Department, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia., Aldahmesh MA, Gaunt TR, Rassoulian H, Ai Guthrie P, Rodriguez S, Boustred CR, Spanakis E, Day IN
Publikováno v:
Nature protocols [Nat Protoc] 2010 Nov; Vol. 5 (11), pp. 1800-12. Date of Electronic Publication: 2010 Oct 21.