Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Chris C. Buxton"'
Autor:
Axel Bohring, Jean-Baptiste Rivière, Joanna Kennedy, Giampaolo Garani, Margo Whiteford, Stefania Bigoni, Bregje W.M. van Bon, Elisa Ballardini, Laurence Faivre, Emmanuelle Ginglinger, Han G. Brunner, Matt Wherlock, Alexander Hoischen, Ruth Newbury-Ecob, Vincent Meyer, Robert Olaso, Geoff Woodward, Rocio Acuna-Hidalgo, Ange-Line Bruel, Judith St-Onge, Maggie Williams, Julien Thevenon, Christel Thauvin-Robinet, Giulia Parmeggiani, Jean-François Deleuze, Ddd Study, Chris C. Buxton, Alessandra Ferlini, Mark Greenslade, Anne Boland
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2017, 〈http://jmg.bmj.com/content/early/2017/10/26/jmedgenet-2017-104748〉. 〈10.1136/jmedgenet-2017-104748〉
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 54(12), 830-835. BMJ Publishing Group
Journal of Medical Genetics, 54, 12, pp. 830-835
Journal of Medical Genetics, 54, 830-835
Journal of Medical Genetics, BMJ Publishing Group, 2017, 〈http://jmg.bmj.com/content/early/2017/10/26/jmedgenet-2017-104748〉. 〈10.1136/jmedgenet-2017-104748〉
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 54(12), 830-835. BMJ Publishing Group
Journal of Medical Genetics, 54, 12, pp. 830-835
Journal of Medical Genetics, 54, 830-835
Background Bohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by a recognisable craniofacial appearance and a typical 'BOS' posture. BOS is caused by sporadic mutations of ASXL1. However, several typical patients with BOS have no m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9616db17c74253ed460103a96e1c8340
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01625676
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01625676
Publikováno v:
Bone Abstracts.
Publikováno v:
Clinical dysmorphology. 24(3)
Autor:
Karen Low, Alan Donaldson, Mark Greenslade, Davies Joanne, Mary Gable, Julie Honeychurch, Ruth Newbury-Ecob, Marc Wadsley, Rebecca Whittington, Maggie Williams, Chris C. Buxton, Josphine Affleck, G. Woodward
Publikováno v:
Heart. 102:A139-A140
Cardiac disease is genetically heterogeneous with genes associated with multiple cardiac diseases, multiple causal genes per disease, and often multiple variants in one or more genes contributing to disease presentation. Gene panel testing, either th
Autor:
Loong L; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK., Huntley C; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK., McRonald F; NHS Digital, National Disease Registration Service, London, UK., Santaniello F; NHS Digital, National Disease Registration Service, London, UK.; Health Data Insight CIC, Cambridge, UK., Pethick J; NHS Digital, National Disease Registration Service, London, UK., Torr B; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK., Allen S; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK., Tulloch O; NHS Digital, National Disease Registration Service, London, UK.; Health Data Insight CIC, Cambridge, UK., Goel S; NHS Digital, National Disease Registration Service, London, UK.; Health Data Insight CIC, Cambridge, UK., Shand B; NHS Digital, National Disease Registration Service, London, UK.; Health Data Insight CIC, Cambridge, UK., Rahman T; NHS Digital, National Disease Registration Service, London, UK.; Health Data Insight CIC, Cambridge, UK., Luchtenborg M; NHS Digital, National Disease Registration Service, London, UK.; Centre for Cancer, Society & Public Health, King's College London, London, UK., Garrett A; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK., Barber R; Central and South Genomic Laboratory Hub, West Midlands Regional Genetics Laboratory, Birmingham, UK., Bedenham T; West Midlands, Oxford and Wessex Genomic Laboratory Hub, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Bourn D; North East and Yorkshire Genomic Laboratory Hub, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK., Bradshaw K; East Midlands and East of England Genomics Laboratory, Nottingham University Hospitals NHS Trust, Nottingham, UK., Brooks C; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Bruty J; East Genomic Laboratory Hub, Cambridge University Hospitals Genomic Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Burghel GJ; Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester, UK., Butler S; Central and South Genomic Laboratory Hub, West Midlands Regional Genetics Laboratory, Birmingham, UK., Buxton C; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., Callaway A; Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Foundation Trust, Salisbury, UK., Callaway J; Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Foundation Trust, Salisbury, UK., Drummond J; East Genomic Laboratory Hub, Cambridge University Hospitals Genomic Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Durkie M; Sheffield Diagnostic Genetics Service, North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Field J; East Midlands and East of England Genomics Laboratory, Nottingham University Hospitals NHS Trust, Nottingham, UK., Jenkins L; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., McVeigh TP; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK.; Cancer Genetics Unit, Royal Marsden Hospital NHS Trust, London, UK., Mountford R; North West Genomic Laboratory Hub (Liverpool), Manchester Centre for Genomic Medicine, Liverpool, UK., Nyanhete R; Sheffield Diagnostic Genetics Service, North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Petrides E; West Midlands, Oxford and Wessex Genomic Laboratory Hub, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Robinson R; Yorkshire and North East Genomic Laboratory Hub, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Scott T; Yorkshire and North East Genomic Laboratory Hub, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Stinton V; North West Genomic Laboratory Hub (Liverpool), Manchester Centre for Genomic Medicine, Liverpool, UK., Tellez J; North East and Yorkshire Genomic Laboratory Hub, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK., Wallace AJ; Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester, UK., Yarram-Smith L; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., Sahan K; The Ethox Centre and Wellcome Centre for Ethics and Humanities, Nuffield Department of Population Health, University of Oxford Ethox Centre, Oxford, UK., Hallowell N; The Ethox Centre and Wellcome Centre for Ethics and Humanities, Nuffield Department of Population Health, University of Oxford Ethox Centre, Oxford, UK., Eccles DM; Cancer Sciences, University of Southampton Faculty of Medicine, Southampton, UK.; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK., Pharoah P; Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, Cambridge, UK., Tischkowitz M; Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, Cambridge, UK., Antoniou AC; Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, Cambridge, UK., Evans DG; Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution & Genomic Sciences, The University of Manchester, Manchester, UK., Lalloo F; Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester, UK., Norbury G; South East Genomic Laboratory Hub, Guy's and St Thomas' Hospitals NHS Trust, London, UK., Morris E; Nuffield Department of Population Health, University of Oxford, Oxford, UK., Burn J; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Hardy S; NHS Digital, National Disease Registration Service, London, UK., Turnbull C; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK clare.turnbull@icr.ac.uk.; Cancer Genetics Unit, Royal Marsden Hospital NHS Trust, London, UK.
Publikováno v:
Journal of medical genetics [J Med Genet] 2023 Jul; Vol. 60 (7), pp. 669-678. Date of Electronic Publication: 2022 Dec 26.
Autor:
Edgerley K; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., Barnicoat A; Department of Clinical Genetics, Great Ormond Street for Children NHS Foundation Trust, London, United Kingdom., Offiah AC; Department of Oncology and Metabolism, University of Sheffield, Sheffield, United Kingdom., Calder AD; Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Mankad K; Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Thomas NS; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom., Bunyan DJ; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom., Williams M; Bristol Genetics Laboratory, South West Genomics Laboratory Hub, Southmead Hospital, North Bristol NHS Trust, Bristol, United Kingdom., Buxton C; Bristol Genetics Laboratory, South West Genomics Laboratory Hub, Southmead Hospital, North Bristol NHS Trust, Bristol, United Kingdom., Majumdar A; Department of Paediatric Neurology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., Vijayakumar K; Department of Paediatric Neurology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., Hilliard T; Department of Paediatric Respiratory Medicine, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., Turner J; Department of Paediatric Orthopaedics, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., Burren CP; Department of Paediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., Monsell F; Department of Paediatric Orthopaedics, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., Smithson SF; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Apr; Vol. 185 (4), pp. 1228-1235. Date of Electronic Publication: 2021 Jan 13.
Autor:
Sen ES; Bristol Renal, School of Clinical Sciences, University of Bristol, Bristol, UK.; Bristol Royal Hospital for Children, Bristol, UK., Dean P; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., Yarram-Smith L; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., Bierzynska A; Bristol Renal, School of Clinical Sciences, University of Bristol, Bristol, UK., Woodward G; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., Buxton C; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., Dennis G; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., Welsh GI; Bristol Renal, School of Clinical Sciences, University of Bristol, Bristol, UK., Williams M; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., Saleem MA; Bristol Renal, School of Clinical Sciences, University of Bristol, Bristol, UK.; Bristol Royal Hospital for Children, Bristol, UK.
Publikováno v:
Journal of medical genetics [J Med Genet] 2017 Dec; Vol. 54 (12), pp. 795-804. Date of Electronic Publication: 2017 Aug 05.
Autor:
Bruel AL; Inserm UMR 1231 GAD Team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.; FHU-TRANSLAD, Université de Bourgogne/CHU, Dijon, France., Bigoni S; Department of Reproduction and Growth, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy.; Department of Medical Science, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy., Kennedy J; Clinical Genetics Department, University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, Bristol, UK.; University of Bristol, Glasgow, UK., Whiteford M; Department of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, UK., Buxton C; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., Parmeggiani G; Department of Reproduction and Growth, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy.; Department of Medical Science, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy., Wherlock M; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., Woodward G; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., Greenslade M; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., Williams M; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK., St-Onge J; Department of Human Genetics, McGill University Health Centre, Montreal, Canada., Ferlini A; Department of Reproduction and Growth, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy.; Department of Medical Science, UOL of Medical Genetics, University Hospital St Anna, Ferrara, Italy., Garani G; Department of Reproduction and Growth, Neonatal Intensive Care Unit, University Hospital St Anna, Ferrara, Italy., Ballardini E; Department of Reproduction and Growth, Neonatal Intensive Care Unit, University Hospital St Anna, Ferrara, Italy., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Acuna-Hidalgo R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Bohring A; Institute of Human Genetics, Westfälische Wilhelms-Universität Münster, Münster, Germany., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, Évry, France., Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, Évry, France., Meyer V; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, Évry, France., Olaso R; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, Évry, France., Ginglinger E; Service de Génétique, Centre Hospitalier de Mulhouse, Mulhouse, Alsace, France., Study D; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Cambridge, UK., Rivière JB; Department of Human Genetics, McGill University Health Centre, Montreal, Canada., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Newbury-Ecob R; Clinical Genetics Department, University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, Bristol, UK.; University of Bristol, Glasgow, UK., Faivre L; Inserm UMR 1231 GAD Team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.; FHU-TRANSLAD, Université de Bourgogne/CHU, Dijon, France., Thauvin-Robinet C; Inserm UMR 1231 GAD Team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.; FHU-TRANSLAD, Université de Bourgogne/CHU, Dijon, France., Thevenon J; Inserm UMR 1231 GAD Team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.; FHU-TRANSLAD, Université de Bourgogne/CHU, Dijon, France.; Centre de Génétique, Hôpital Couple Enfant, CHU de Grenoble Alpes, La Tronche, France.
Publikováno v:
Journal of medical genetics [J Med Genet] 2017 Dec; Vol. 54 (12), pp. 830-835. Date of Electronic Publication: 2017 Oct 26.
Autor:
Antoniadi T; Bristol Genetics Laboratory, North Bristol NHS Trust, Southmead Hospital, Bristol, BS10 5NB, UK. thalia.antoniadi@nhs.net., Buxton C; Bristol Genetics Laboratory, North Bristol NHS Trust, Southmead Hospital, Bristol, BS10 5NB, UK. chris.buxton@nhs.net., Dennis G; Bristol Genetics Laboratory, North Bristol NHS Trust, Southmead Hospital, Bristol, BS10 5NB, UK. gemma.dennis@nbt.nhs.uk., Forrester N; Bristol Genetics Laboratory, North Bristol NHS Trust, Southmead Hospital, Bristol, BS10 5NB, UK. natalie.forrester@nbt.nhs.uk., Smith D; Bristol Genetics Laboratory, North Bristol NHS Trust, Southmead Hospital, Bristol, BS10 5NB, UK. debbie.smith@nbt.nhs.uk., Lunt P; Department of Social & Community Medicine, University of Bristol, Oakfield House, Bristol, BS8 2BN, UK. peter.lunt@bristol.ac.uk., Burton-Jones S; Bristol Genetics Laboratory, North Bristol NHS Trust, Southmead Hospital, Bristol, BS10 5NB, UK. sarah.burton-jones@nbt.nhs.uk.
Publikováno v:
BMC medical genetics [BMC Med Genet] 2015 Sep 21; Vol. 16, pp. 84. Date of Electronic Publication: 2015 Sep 21.