Magnetic resonance spectroscopy for 2-hydroxyglutarate identifies IDH mutant gliomas

Autor: Larkin, SJ, Near, J, Kudari, M, Khrapitchev, A, Sibson, N, Jezzard, P, Pfeffer, I, Al-Qahtani, K, Schofield, C, Mccullagh, J, Ansorge, O

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https://ora.ox.ac.uk/objects/uuid:aa75e1b4-e4f2-4b91-9bd0-51cb8145a8d9

A comparison of 2-hydroxyglutarate detection at 3 and 7 T with long-TE semi-LASER.

Autor: Berrington A; FMRIB Centre, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK., Voets NL; FMRIB Centre, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK., Larkin SJ; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., de Pennington N; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Department of Neurosurgery, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK., Mccullagh J; Department of Chemistry, University of Oxford, Oxford, UK., Stacey R; Department of Neurosurgery, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK., Schofield CJ; Department of Chemistry, University of Oxford, Oxford, UK., Jezzard P; FMRIB Centre, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK., Clare S; FMRIB Centre, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK., Cadoux-Hudson T; Department of Neurosurgery, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK., Plaha P; Department of Neurosurgery, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK., Ansorge O; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Emir UE; FMRIB Centre, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK.; School of Health Sciences, Purdue University, West Lafayette, IN, USA.

Publikováno v: NMR in biomedicine [NMR Biomed] 2018 Mar; Vol. 31 (3). Date of Electronic Publication: 2018 Jan 05.

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.

Autor: Iacovazzo D; Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK., Caswell R; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK., Bunce B; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK., Jose S; Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK., Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Hernández-Ramírez LC; Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, 20892, USA., Kapur S; Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK., Caimari F; Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK., Evanson J; Department of Radiology, Barts Health NHS Trust, London, EC1A 7BE, UK., Ferraù F; Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK., Dang MN; Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK., Gabrovska P; Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK., Larkin SJ; Department of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX1 2JD, UK., Ansorge O; Department of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX1 2JD, UK., Rodd C; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, R3T 2 N2, Canada., Vance ML; Department of Endocrinology, University of Virginia, Charlottesville, 22908, USA., Ramírez-Renteria C; Endocrinology Service and Experimental Endocrinology Unit, Hospital de Especialidades Centro Médico Nacional Siglo XXI, IMSS, UNAM, Mexico City, 06720, Mexico., Mercado M; Endocrinology Service and Experimental Endocrinology Unit, Hospital de Especialidades Centro Médico Nacional Siglo XXI, IMSS, UNAM, Mexico City, 06720, Mexico., Goldstone AP; Imperial Centre for Endocrinology, Imperial College Healthcare NHS Trust, W12 0HS, London, UK., Buchfelder M; Department of Neurosurgery, University of Duisburg-Essen, Essen, 45141, Germany., Burren CP; Department of Paediatric Endocrinology, University Hospitals Bristol NHS Foundation Trust, Bristol, BS2 8HW, UK., Gurlek A; Department of Endocrinology and Metabolism, Faculty of Medicine, Hacettepe University, Ankara, 06100, Turkey., Dutta P; Department of Endocrinology, PGIMER, Chandigarh, 160012, India., Choong CS; Department of Pediatric Endocrinology, Princess Margaret Hospital for Children, Subiaco, 6008, Australia., Cheetham T; Newcastle University c/o Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle-upon-Tyne, NE1 4LP, UK., Trivellin G; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, 20892, USA., Stratakis CA; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, 20892, USA., Lopes MB; Department of Pathology, University of Virginia, Charlottesville, 22908, USA., Grossman AB; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, OX1 2JD, UK., Trouillas J; Department of Pathology, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, 69500, France., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine Houston, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine Houston, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK., Sampson JR; Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK., Roncaroli F; Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, M13 9PL, UK., Korbonits M; Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK. m.korbonits@qmul.ac.uk.

Publikováno v: Acta neuropathologica communications [Acta Neuropathol Commun] 2016 Jun 01; Vol. 4 (1), pp. 56. Date of Electronic Publication: 2016 Jun 01.

The Wnt signalling cascade and the adherens junction complex in craniopharyngioma tumorigenesis.

Autor: Preda V; Department of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Rd, Headington, Oxford, OX3 7LE, UK, vpre3773@uni.sydney.edu.au., Larkin SJ, Karavitaki N, Ansorge O, Grossman AB

Publikováno v: Endocrine pathology [Endocr Pathol] 2015 Mar; Vol. 26 (1), pp. 1-8.

BRAF V600E mutations are characteristic for papillary craniopharyngioma and may coexist with CTNNB1-mutated adamantinomatous craniopharyngioma.

Autor: Larkin SJ; Nuffield Department of Clinical Neurosciences, Department of Neuropathology, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK., Preda V, Karavitaki N, Grossman A, Ansorge O

Publikováno v: Acta neuropathologica [Acta Neuropathol] 2014; Vol. 127 (6), pp. 927-9. Date of Electronic Publication: 2014 Apr 09.