Zobrazeno 1 - 10 of 643 pro vyhledávání: '"DeVile C"'
1
Akademický článek
Osteogenesis imperfecta
Autor: Chan, E., DeVile, C., Ratnamma, V.S.
Publikováno v: In BJA Education May 2023 23(5):182-188
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2
Akademický článek
An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: the BOOSTB4 trial protocol.
Autor: Sagar RL; Elizabeth Garrett Anderson Institute for Women's Health, University College London, London, UK.; NIHR University College London Hospitals Biomedical Research Centre, London, UK., Åström E; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.; Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden., Chitty LS; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomics, UCL Great Ormond Street Institute of Child Health, London, UK., Crowe B; Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., David AL; Elizabeth Garrett Anderson Institute for Women's Health, University College London, London, UK.; NIHR University College London Hospitals Biomedical Research Centre, London, UK., DeVile C; Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Forsmark A; PharmaLex, Gothenburg, Sweden., Franzen V; XNK Therapeutics AB, Huddinge, Sweden., Hermeren G; Department of Clinical Sciences, Lund University Faculty of Medicine, Lund, Sweden., Hill M; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomics, UCL Great Ormond Street Institute of Child Health, London, UK., Johansson M; Department of Clinical Sciences, Lund University Faculty of Medicine, Lund, Sweden., Lindemans C; Department of Pediatrics, University Medical Centre Utrecht, Utrecht, The Netherlands., Lindgren P; Center for Fetal Medicine, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden., Nijhuis W; Department of Orthopedic Surgery, University Medical Centre Utrecht, Utrecht, The Netherlands., Oepkes D; Department of Obstetrics, Leiden University Medical Center, Leiden, The Netherlands., Rehberg M; Department of Pediatrics, University Hospital Cologne, Koln, Nordrhein-Westfalen, Germany., Sahlin NE; Department of Clinical Sciences, Lund University Faculty of Medicine, Lund, Sweden., Sakkers R; Department of Orthopedic Surgery, University Medical Centre Utrecht, Utrecht, The Netherlands., Semler O; Department of Pediatrics, University Hospital Cologne, Koln, Nordrhein-Westfalen, Germany., Sundin M; Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden.; Section of Pediatic Hematology, Immunology and HCT, Karolinska University Hospital, Stockholm, Sweden., Walther-Jallow L; Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden., Verweij EJTJ; Department of Obstetrics, Leiden University Medical Center, Leiden, The Netherlands., Westgren M; Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden., Götherström C; Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden cecilia.gotherstrom@ki.se.
Publikováno v: BMJ open [BMJ Open] 2024 Jun 04; Vol. 14 (6), pp. e079767. Date of Electronic Publication: 2024 Jun 04.
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4
Akademický článek
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5
Akademický článek
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Autor: Ververi A; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetic Unit, 1st Obstetrics-Gynaecology Department, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece., Zagaglia S; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, Chalfont St. Peter, UK., Menzies L; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Baptista J; Faculty of Health, University of Plymouth, Plymouth, UK., Caswell R; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Baulac S; Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Sorbonne Université, F-75013 Paris, France., Ellard S; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Lynch S; Academic Centre on Rare Diseases, University College Dublin School of Medicine and Medical Science, Dublin, Ireland.; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland., Jacques TS; Developmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Chawla MS; Department of Neuroradiology, Oslo University Hospital, Oslo, Norway., Heier M; Department of Clinical Neuroscience for Children, Oslo University Hospital, Oslo, Norway., Kulseth MA; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Mero IL; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Våtevik AK; National Center for Epilepsy-SSE, Oslo Univeristy Hospital, Oslo, Norway., Kraoua I; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Ben Rhouma H; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Ben Younes T; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Miladi Z; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Ben Youssef Turki I; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Jones WD; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Clement E; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Eltze C; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Mankad K; Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Merve A; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Parker J; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Hoskins B; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Pressler R; Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Sudhakar S; Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., DeVile C; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Homfray T; SW Thames Regional Genetics Service, St George's Hospital, St George's University of London, London, UK., Kaliakatsos M; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Robinson R; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Keim SMB; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Habibi I; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, Chalfont St. Peter, UK., Hurst JA; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Publikováno v: Human molecular genetics [Hum Mol Genet] 2023 Jan 27; Vol. 32 (4), pp. 580-594.
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6
Akademický článek
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Autor: Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Falabella M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., McKittrick C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Pizzamiglio C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Ellmers R; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK., Eggleton K; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK., Woodward CE; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK., Patel Y; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK., Labrum R; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK., Phadke R; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., DeVile C; Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Sarkozy A; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Footitt E; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Davison J; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre, London, UK., Rahman S; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Quinlivan R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. j.vandrovcova@ucl.ac.uk., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. r.pitceathly@ucl.ac.uk.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK. r.pitceathly@ucl.ac.uk.
Publikováno v: Nature communications [Nat Commun] 2022 Nov 07; Vol. 13 (1), pp. 6324. Date of Electronic Publication: 2022 Nov 07.
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7
Akademický článek
Expanding the phenotype of SPARC -related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review.
Autor: Durkin A; The University of Sheffield Medical School, Sheffield, UK., DeVile C; Highly Specialised OI Service, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK., Arundel P; Highly Specialised OI Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Bull M; Metabolic Bone Centre, Northern General Hospital, Sheffield, UK., Walsh J; Metabolic Bone Centre, Northern General Hospital, Sheffield, UK.; Department of Oncology & Metabolism, The University of Sheffield, Sheffield, UK., Bishop NJ; Highly Specialised OI Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Department of Oncology & Metabolism, The University of Sheffield, Sheffield, UK., Hupin E; Highly Specialised OI Service, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK., Parekh S; Eastman Dental Institute, University College London, London, UK., Nadarajah R; Highly Specialised OI Service, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK., Offiah AC; Highly Specialised OI Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Department of Oncology & Metabolism, The University of Sheffield, Sheffield, UK., Calder A; Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Brock J; Connective Tissue Disorders Service, Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK., Baker D; Connective Tissue Disorders Service, Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK., Balasubramanian M; Highly Specialised OI Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK meena.balasubramanian@nhs.net.; Department of Oncology & Metabolism, The University of Sheffield, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Publikováno v: Journal of medical genetics [J Med Genet] 2022 Aug; Vol. 59 (8), pp. 810-816. Date of Electronic Publication: 2021 Aug 30.
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8
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
Autor: Sadleir, LG, Mountier, EI, Gill, D, Davis, S, Joshi, C, DeVile, C, Kurian, MA, Study, DDD, Mandelstam, S, Wirrell, E, Nickels, KC, Murali, HR, Carvill, G, Scheffer, IE
Publikováno v: Sadleir, LG, Mountier, EI, Gill, D, Davis, S, Joshi, C, DeVile, C, Kurian, MA, Study, DDD, Mandelstam, S, Wirrell, E, Nickels, KC, Murali, HR, Carvill, G & Scheffer, IE 2017, ' Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. ', Neurology . https://doi.org/10.1212/wnl.0000000000004331
Objective: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder.Methods: A case series of 9 children were identified with a profound developmental and epileptic encephalopa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3818::435db2581d339c12eb616f8947c6201e
https://pure.manchester.ac.uk/ws/files/182997475/1035.full.pdf
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9
Akademický článek
Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study.
Autor: Thornley P; The University of Sheffield Faculty of Medicine Dentistry and Health, Sheffield, UK., Bishop N; Department of Oncology and Metabolism, The University of Sheffield, Sheffield, UK.; Highly Specialised Osteogenesis Imperfecta Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK., Baker D; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Brock J; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Arundel P; Highly Specialised Osteogenesis Imperfecta Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK., Burren C; Department of Paediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Smithson S; Department of Clinical Genetics, St Michaels Hospital, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., DeVile C; Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Crowe B; Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Allgrove J; Department of Endocrinology, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK., Saraff V; Department of Endocrinology and Diabetes, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Shaw N; Department of Endocrinology and Diabetes, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Balasubramanian M; Department of Oncology and Metabolism, The University of Sheffield, Sheffield, UK m.balasubramanian@sheffield.ac.uk.; Highly Specialised Osteogenesis Imperfecta Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Publikováno v: Archives of disease in childhood [Arch Dis Child] 2022 May; Vol. 107 (5), pp. 486-490. Date of Electronic Publication: 2021 Nov 08.
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Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy
Autor: Silwal, A., Pitt, M., Phadke, R., Mankad, K., Davison, J.E., Rossor, A., DeVile, C., Reilly, M.M., Manzur, A.Y., Muntoni, F., Munot, P.
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a treatable chronic disorder of the peripheral nervous system. We retrospectively studied 30 children with a suspected diagnosis of CIDP. The diagnosis of CIDP was compared against t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fc8cd42ac2ea90ddf5eeb58f63850bb4
https://europepmc.org/articles/PMC6509554/
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