Zobrazeno 1 - 10
of 117
pro vyhledávání: '"Pavaine, J"'
Autor:
Schwahn BC; Division of Evolution & Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., van Spronsen F; Department of Metabolic Diseases, Beatrix Children's, University Medical Center (UMC) Groningen, Groningen, Netherlands., Misko A; Massachusetts General Hospital Department of Neurology, Boston, Massachusetts, USA., Pavaine J; Department of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, University of Manchester, Manchester, UK.; Division of Informatics, Imaging & Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Holmes V; Willink Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Spiegel R; Department of Pediatrics Unit B, Emek Medical Center, Afula, Israel., Schwarz G; Center for Molecular Medicine Cologne, Köln, Germany., Wong F; Monash Children's Hospital/Hudson Institute of Medical Research/Monash University, Melbourne, Victoria, Australia., Horman A; Great Ormond Street Hospital, London, UK., Pitt J; Victorian Clinical Genetics Services, The Royal Children's Hospital, Parkville, Victoria, Australia., Sass JO; RG Inborn Error of Metabolism, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany., Lubout C; Department of Metabolic Diseases, Beatrix Children's, University Medical Center (UMC) Groningen, Groningen, Netherlands.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 598-623. Date of Electronic Publication: 2024 Apr 16.
Autor:
Kazerooni AF; Center for Data-Driven Discovery in Biomedicine (D3b), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurosurgery, University of Pennsylvania, Philadelphia, PA, USA.; Center for AI & Data Science for Integrated Diagnostics (AI2D) and Center for Biomedical Image Computing and Analytics (CBICA), University of Pennsylvania, Philadelphia, PA, USA., Khalili N; Center for Data-Driven Discovery in Biomedicine (D3b), Children's Hospital of Philadelphia, Philadelphia, PA, USA., Liu X; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Hospital, Washington DC, USA., Haldar D; Center for Data-Driven Discovery in Biomedicine (D3b), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurosurgery, Thomas Jefferson University Hospital, PA, USA., Jiang Z; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Hospital, Washington DC, USA., Anwar SM; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Hospital, Washington DC, USA., Albrecht J; Sage Bionetworks, USA., Adewole M; Medical Artificial Intelligence (MAI) Lab, Crestview Radiology, Lagos, Nigeria., Anazodo U; Montreal Neurological Institute (MNI), McGill University, Montreal, QC, Canada., Anderson H; Center for Data-Driven Discovery in Biomedicine (D3b), Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bagheri S; Center for Data-Driven Discovery in Biomedicine (D3b), Children's Hospital of Philadelphia, Philadelphia, PA, USA., Baid U; Center for AI & Data Science for Integrated Diagnostics (AI2D) and Center for Biomedical Image Computing and Analytics (CBICA), University of Pennsylvania, Philadelphia, PA, USA.; Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Bergquist T; Sage Bionetworks, USA., Borja AJ; Department of Neurosurgery at the University of Southern California, CA, USA., Calabrese E; Department of Radiology, Duke University Medical Center, USA., Chung V; Sage Bionetworks, USA., Conte GM; Mayo Clinic, MN, USA., Dako F; Center for Global Health, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Eddy J; Sage Bionetworks, USA., Ezhov I; Department of Informatics, Technical University Munich, Germany.; TranslaTUM - Central Institute for Translational Cancer Research, Technical University of Munich, Germany., Familiar A; Center for Data-Driven Discovery in Biomedicine (D3b), Children's Hospital of Philadelphia, Philadelphia, PA, USA., Farahani K; Cancer Imaging Program, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Haldar S; Center for Data-Driven Discovery in Biomedicine (D3b), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Biomedical Engineering Rutgers University, New Brunswick, NJ, USA., Iglesias JE; Athinoula A Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Boston, MA, USA., Janas A; Yale University, New Haven, CT, USA., Johansen E; PrecisionFDA, U.S. Food and Drug Administration, Silver Spring, MD, USA., Jones BV; Cincinnati Children's Hospital Medical Center., Kofler F; Helmholtz AI, Helmholtz Munich, Germany., LaBella D; Department of Radiation Oncology, Duke University Medical Center, USA., Lai HA; Department of Radiology, Children's Health Orange County, CA, USA., Van Leemput K; Department of Applied Mathematics and Computer Science, Technical University of Denmark, Denmark., Li HB; Athinoula A Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Boston, MA, USA., Maleki N; Yale University, New Haven, CT, USA., McAllister AS; Department of Radiology, Nationwide Children's Hospital, OH., Meier Z; Booz Allen Hamilton, McLean, VA, USA., Menze B; Biomedical Image Analysis & Machine Learning, Department of Quantitative Biomedicine, University of Zurich, Switzerland.; Department of Neuroradiology, Technical University of Munich, Munich, Germany., Moawad AW; Mercy Catholic Medical Center, Darby, PA, USA., Nandolia KK; Department of Diagnostic and Interventional Radiology, All India Institute of Medical Sciences, Rishikesh, India., Pavaine J; Department of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, University of Manchester, Manchester, UK.; Division of Informatics, Imaging & Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Piraud M; Helmholtz AI, Helmholtz Munich, Germany., Poussaint T; Dana-Farber Brigham Cancer Center & Boston Children's Hospital, Boston, MA, USA., Prabhu SP; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Reitman Z; Department of Radiation Oncology, Duke University Medical Center, USA., Rodriguez A; Department of Diagnostic & Interventional Imaging, Neuroradiology section. The University of Texas Health Sciences Center at Houston., Rudie JD; University of California, San Diego, CA, USA., Shaikh IS; Beth Israel Deaconess Medical Center, Harvard Medical School, MA, USA., Shah LM; University of Utah, UT, USA., Sheth N; Department of Radiology, The Children's Hospital of Philadelphia, PA, USA., Shinohara RT; Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania, Philadelphia, USA., Tu W; College of Arts and Sciences, University of Pennsylvania, PA, USA., Viswanathan K; Center for Data-Driven Discovery in Biomedicine (D3b), Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wang C; Department of Radiation Oncology, Duke University Medical Center, USA., Ware JB; Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Wiestler B; Department of Neuroradiology, Technical University of Munich, Munich, Germany., Wiggins W; Department of Radiology, Duke University Medical Center, USA., Zapaishchykova A; Dana-Farber Brigham Cancer Center & Boston Children's Hospital, Boston, MA, USA., Aboian M; Yale University, New Haven, CT, USA., Bornhorst M; Brain Tumor Institute, Children's National Hospital, Washington, DC, USA., de Blank P; Brain Tumor Center, Cincinnati Children's Hospital, Cincinnati, OH, USA., Deutsch M; Pediatric Neuro-Oncology Program, Nationwide Children's Hospital, Columbus, OH, US., Fouladi M; Pediatric Neuro-Oncology Program, Nationwide Children's Hospital, Columbus, OH, US., Hoffman L; Center for Cancer and Blood Disorders, Phoenix Children's Hospital, Phoenix, AZ, US., Kann B; Dana-Farber Brigham Cancer Center & Boston Children's Hospital, Boston, MA, USA., Lazow M; Pediatric Neuro-Oncology Program, Nationwide Children's Hospital, Columbus, OH, US., Mikael L; Pediatric Neuro-Oncology Program, Nationwide Children's Hospital, Columbus, OH, US., Nabavizadeh A; Center for Data-Driven Discovery in Biomedicine (D3b), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Packer R; Brain Tumor Institute, Children's National Hospital, Washington, DC, USA., Resnick A; Center for Data-Driven Discovery in Biomedicine (D3b), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurosurgery, University of Pennsylvania, Philadelphia, PA, USA., Rood B; Center for Cancer and Blood Disorders, Children's National Hospital, Washington, DC, USA., Vossough A; Center for Data-Driven Discovery in Biomedicine (D3b), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Radiology, The Children's Hospital of Philadelphia, PA, USA., Bakas S; Center for AI & Data Science for Integrated Diagnostics (AI2D) and Center for Biomedical Image Computing and Analytics (CBICA), University of Pennsylvania, Philadelphia, PA, USA.; Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Linguraru MG; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Hospital, Washington DC, USA.; Departments of Radiology and Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
Publikováno v:
ArXiv [ArXiv] 2024 May 23. Date of Electronic Publication: 2024 May 23.
Autor:
Sitaram S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Banka HC; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Vassallo G; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Pavaine J; Academic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Fairclough A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Wright R; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Fairbanks L; Purine Research Laboratory, St Thomas' Hospital, London, UK., Bierau J; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Bowden L; Department of Neonatology, Royal Oldham Hospital, Oldham, UK., Schwahn B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Horman A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jan; Vol. 191 (1), pp. 234-237. Date of Electronic Publication: 2022 Oct 22.
Publikováno v:
Konstantinidis, A, Cheesman, E, O'Sullivan, J, Pavaine, J, Avula, S, Pizer, B & Kilday, J P 2019, ' Intracranial angiomatoid fibrous histiocytoma with EWSR1-CREB family fusions : a report of two pediatric cases ', World Neurosurgery . https://doi.org/10.1016/j.wneu.2019.02.107
BACKGROUND: Intracranial angiomatoid fibrous histiocytomas (AFHs) are very rare tumors. Histologically, classical cases have been reported exclusively in adults with only myxoid variants identified in children. Here, we report the clinical presentati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3818::c12ecc528484ef5fe3f3810ea3902cd9
https://doi.org/10.1016/j.wneu.2019.02.107
https://doi.org/10.1016/j.wneu.2019.02.107
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Autor:
Raviglione F; Hospital Neuropsychiatry Service, ASST Rhodense, Rho, Milan, Italy. Electronic address: fraviglione@asst-rhodense.it., Douzgou S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK; Member of ERN-ITHACA., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Mingarelli A; Hospital Neuropsychiatry Service, ASST Rhodense, Rho, Milan, Italy., D'Arrigo S; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Member of ERN EpiCARE., Darra F; Child Neuropsychiatry Unit, Department of Life and Reproduction Sciences, University of Verona, Verona, Italy., Giglio S; Department of Biomedical Experimental and Clinical Sciences 'Mario Serio', University of Florence, Florence, Italy., Bonaglia MC; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Pantaleoni C; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Mastrangelo M; Paediatric Neurology Unit, Department of Pediatrics, Children's Hospital Vittore Buzzi, Milan, Italy., Epifanio R; Clinical Neurophysiology Unit, IRCCS, E Medea Scientific Institute, Bosisio Parini, Lecco, Italy., Elia M; Oasi Research Institute- IRCCS, Troina, Italy., Saletti V; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Morlino S; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Poliambulatorio 'Giovanni Paolo II', Viale Padre Pio, snc, San Giovanni Rotondo 71013, Italy., Vari MS; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., De Liso P; Department of Neuroscience, Bambino Gesù Children's Hospital, IRRCS, Rome, Italy; Member of ERN EpiCARE., Pavaine J; Academic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, University of Manchester, Manchester, UK., Spaccini L; Clinical Genetics Service, Department of Pediatrics, Vittore Buzzi Hospital, Milan, Italy., Cattaneo E; Clinical Genetics Service, Department of Pediatrics, Vittore Buzzi Hospital, Milan, Italy., Gardella E; The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark; Member of ERN EpiCARE., Møller RS; The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark; Member of ERN EpiCARE., Marchese F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Colonna C; Hospital Neuropsychiatry Service, ASST Rhodense, Rho, Milan, Italy., Gandioli C; Hospital Neuropsychiatry Service, ASST Rhodense, Rho, Milan, Italy., Gobbi G; Child Neurology Unit, IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy., Ram D; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Palumbo O; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Poliambulatorio 'Giovanni Paolo II', Viale Padre Pio, snc, San Giovanni Rotondo 71013, Italy., Carella M; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Poliambulatorio 'Giovanni Paolo II', Viale Padre Pio, snc, San Giovanni Rotondo 71013, Italy., Germano M; Maternal and Pediatric Department, Fondazione IRCCS Casa Sollievo della Sofferenza, Poliambulatorio 'Giovanni Paolo II', Viale Padre Pio, snc, San Giovanni Rotondo (FG) 71013, Italy., Tonduti D; Paediatric Neurology Unit, Department of Pediatrics, Children's Hospital Vittore Buzzi, Milan, Italy., De Angelis D; Pediatric Department, 'Sapienza' University of Rome, Rome 00185, Italy., Caputo D; Department of Health Sciences, Child Neuropsychiatry Unit - Epilepsy Center, San Paolo Hospital, University of Medicine, Milan, Italy; Member of ERN EpiCARE., Bergonzini P; Department of Pediatrics, Ospedale Policlinico, University of Modena, Italy., Novara F; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Verrotti A; Department of Pediatrics, San Salvatore Hospital, University of L'Aquila, L'Aquila, Italy., Orsini A; Pediatric Neurology Santa Chiara Hospital, University of Pisa, Pisa, Italy., Bonuccelli A; Pediatric Neurology Santa Chiara Hospital, University of Pisa, Pisa, Italy., De Muto MC; Pediatric Neurology Santa Chiara Hospital, University of Pisa, Pisa, Italy., Trivisano M; Department of Neuroscience, Bambino Gesù Children's Hospital, IRRCS, Rome, Italy; Member of ERN EpiCARE., Vigevano F; Department of Neuroscience, Bambino Gesù Children's Hospital, IRRCS, Rome, Italy; Member of ERN EpiCARE., Granata T; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Member of ERN EpiCARE., Bernardina BD; Child Neuropsychiatry Unit, Department of Life and Reproduction Sciences, University of Verona, Verona, Italy., Tranchina A; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Publikováno v:
Seizure [Seizure] 2021 May; Vol. 88, pp. 60-72. Date of Electronic Publication: 2021 Mar 30.
Autor:
Kinsinger, Morgan1 (AUTHOR), Ivanisevic, Jelena2 (AUTHOR), Mithal, Divakar S.1,2 (AUTHOR) DMithal@luriechildrens.org
Publikováno v:
BMC Medical Genomics. 12/18/2024, Vol. 17 Issue 1, p1-7. 7p.
Autor:
Ramji S; Department of imaging, Charing Cross Hospital, Imperial College NHS Trust, London, UK. Electronic address: Saipriya.ramji@nhs.net., McCullagh G; Department of imaging, Charing Cross Hospital, Imperial College NHS Trust, London, UK., Ram D; Department of imaging, Charing Cross Hospital, Imperial College NHS Trust, London, UK., Vassallo G; Department of imaging, Charing Cross Hospital, Imperial College NHS Trust, London, UK., Pavaine J; Academic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK; Division of Informatics, Imaging & Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Publikováno v:
Journal of neuroradiology = Journal de neuroradiologie [J Neuroradiol] 2020 Nov; Vol. 47 (6), pp. 458-463. Date of Electronic Publication: 2019 Oct 04.
Autor:
Alston CL; Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK., Veling MT; Morgridge Institute for Research, Madison, WI 53715, USA; Department of Biochemistry, University of Wisconsin-Madison, Madison, WI 53706, USA; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA., Heidler J; Functional Proteomics, Goethe-Universität, Frankfurt am Main, 60590 Frankfurt, Germany., Taylor LS; Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK., Alaimo JT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Sung AY; Morgridge Institute for Research, Madison, WI 53715, USA; Department of Biochemistry, University of Wisconsin-Madison, Madison, WI 53706, USA., He L; Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK., Hopton S; Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK., Broomfield A; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK., Pavaine J; Academic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Oxford Road, Manchester, M13 9WL, UK; Division of Informatics, Imaging, and Data Sciences, School of Health Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Oxford Road, Manchester, M13 9PT, UK., Diaz J; Rare Disease Institute, Children's National Hospital, Washington, DC 20010, USA., Leon E; Rare Disease Institute, Children's National Hospital, Washington, DC 20010, USA., Wolf P; DRK Kinderklinik, Siegen, Wellersbergstraße 60, 57072 Siegen, Germany., McFarland R; Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK., Prokisch H; Institute of Human Genetics, Technische Universität München, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Wortmann SB; Institute of Human Genetics, Technische Universität München, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK), Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Wittig I; Functional Proteomics, Goethe-Universität, Frankfurt am Main, 60590 Frankfurt, Germany; German Center for Cardiovascular Research (DZHK), Partner Site RheinMain, 60590 Frankfurt, Germany., Pagliarini DJ; Morgridge Institute for Research, Madison, WI 53715, USA; Department of Biochemistry, University of Wisconsin-Madison, Madison, WI 53706, USA. Electronic address: dpagliarini@morgridge.org., Taylor RW; Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK. Electronic address: robert.taylor@ncl.ac.uk.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2020 Jan 02; Vol. 106 (1), pp. 92-101. Date of Electronic Publication: 2019 Dec 19.
Autor:
Duncan CJA; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK. christopher.duncan@ncl.ac.uk tracy.briggs@manchester.ac.uk sophie.hambleton@ncl.ac.uk.; Department of Infection and Tropical Medicine, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Thompson BJ; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Chen R; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Rice GI; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK., Gothe F; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität Munich, Munich, Germany., Young DF; School of Biology, University of St. Andrews, St. Andrews, UK., Lovell SC; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK., Shuttleworth VG; Complement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Brocklebank V; Complement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Corner B; Complement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Skelton AJ; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Bondet V; Immunobiology of Dendritic Cells, Institut Pasteur, Paris, France., Coxhead J; Genomics Core Facility, Biosciences Institute, Newcastle University, UK., Duffy D; Immunobiology of Dendritic Cells, Institut Pasteur, Paris, France., Fourrage C; Plateforme Bioinformatique, Institut Imagine, Paris, France., Livingston JH; Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK., Pavaine J; Academic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.; Division of Informatics, Imaging and Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Cheesman E; Department of Paediatric Histopathology, Central Manchester University Foundation NHS Trust, Manchester, UK., Bitetti S; Department of Paediatric Histopathology, Central Manchester University Foundation NHS Trust, Manchester, UK., Grainger A; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Acres M; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Innes BA; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Mikulasova A; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Sun R; Complement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Hussain R; Immunobiology of Dendritic Cells, Institut Pasteur, Paris, France., Wright R; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Wynn R; Department of Paediatric Blood and Marrow Transplant, Royal Manchester Children's Hospital, Oxford Rd., Manchester, UK., Zarhrate M; Genomics Core Facility, Institut Imagine, Paris, France., Zeef LAH; Bioinformatics Core Facility, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Wood K; Department of Pathology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Hughes SM; Immunology Department, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Harris CL; Complement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Engelhardt KR; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Crow YJ; MRC Institute of Genetics and Molecular Medicine, Centre for Genomic and Experimental Medicine, The University of Edinburgh, Edinburgh, UK.; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France.; Paris Descartes University, Sorbonne-Paris-Cité, Paris, France., Randall RE; School of Biology, University of St. Andrews, St. Andrews, UK., Kavanagh D; Complement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; National Renal Complement Therapeutics Centre, Royal Victoria Infirmary, Newcastle upon Tyne Hosptials NHS Foundation Trust, Newcastle upon Tyne, UK., Hambleton S; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK. christopher.duncan@ncl.ac.uk tracy.briggs@manchester.ac.uk sophie.hambleton@ncl.ac.uk.; Children's Immunology Service, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Briggs TA; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK. christopher.duncan@ncl.ac.uk tracy.briggs@manchester.ac.uk sophie.hambleton@ncl.ac.uk.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Publikováno v:
Science immunology [Sci Immunol] 2019 Dec 13; Vol. 4 (42).
Autor:
Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Sayer R; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Breen C; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Barton S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Pavaine J; Academic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.; Division of Informatics, Imaging and Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Sheppard SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Bedoukian E; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Skraban C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania., Cuddapah VA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Clayton-Smith J; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jun; Vol. 179 (6), pp. 1058-1062. Date of Electronic Publication: 2019 Mar 20.