Zobrazeno 1 - 10
of 102
pro vyhledávání: '"Ja, Hurst"'
Publikováno v:
Europe PubMed Central
Apert syndrome is a distinctive human malformation characterized by craniosynostosis and severe syndactyly of the hands and feet. It is caused by specific missense substitutions involving adjacent amino acids (Ser252Trp or Pro253Arg) in the linker be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::942d54053f60c16508d51a8eac8f34e2
https://pubmed.ncbi.nlm.nih.gov/8651276
https://pubmed.ncbi.nlm.nih.gov/8651276
Autor:
Bernkopf M; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Oxford, UK.; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria., Abdullah UB; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Oxford, UK., Bush SJ; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Wood KA; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Ghaffari S; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Giannoulatou E; Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia., Koelling N; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Maher GJ; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Thibaut LM; Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, NSW, Australia., Williams J; Oxford Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Blair EM; NIHR Oxford Biomedical Research Centre, Oxford, UK.; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Kelly FB; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Bloss A; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Burkitt-Wright E; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK., Canham N; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Deng AT; Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK., Dixit A; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK., Eason J; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK., Elmslie F; South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK., Gardham A; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, UK., Hay E; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Holder M; Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK., Homfray T; South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK., Hurst JA; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Johnson D; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Jones WD; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Kini U; NIHR Oxford Biomedical Research Centre, Oxford, UK.; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Kivuva E; Clinical Genetics, Royal Devon & Exeter Hospital (Heavitree), Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Kumar A; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Lees MM; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Leitch HG; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.; MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK., Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., Németh AH; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Ramachandrappa S; Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK., Saunders K; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Shears DJ; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Side L; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, UK., Splitt M; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK., Stewart A; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Stewart H; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Suri M; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK., Clouston P; Oxford Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Davies RW; Department of Statistics, University of Oxford, Oxford, UK., Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Oxford, UK., Goriely A; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK. anne.goriely@imm.ox.ac.uk.; NIHR Oxford Biomedical Research Centre, Oxford, UK. anne.goriely@imm.ox.ac.uk.
Publikováno v:
Nature communications [Nat Commun] 2023 Feb 15; Vol. 14 (1), pp. 853. Date of Electronic Publication: 2023 Feb 15.
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.
Autor:
Forny P; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom., Footitt E; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom., Davison JE; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom., Lam A; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom., Woodward CE; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom., Batzios S; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom., Bhate S; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom., Chakrapani A; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom., Cleary M; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom., Gissen P; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom., Grunewald S; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom., Hurst JA; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom., Scott R; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom., Heales S; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom., Jacques TS; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom., Cullup T; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom., Rahman S; Mitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2021 May 25; Vol. 7 (3), pp. e597. Date of Electronic Publication: 2021 May 25 (Print Publication: 2021).
Autor:
Kostopoulou E; Department of Pediatric Endocrinology, Great Ormond Street Hospital for Children, London, UK., Dastamani A; Department of Pediatric Endocrinology, Great Ormond Street Hospital for Children, London, UK., Güemes M; Department of Pediatric Endocrinology, Great Ormond Street Hospital for Children, London, UK.; Genetics and Genomic Medicine Program, UCL Great Ormond Street Institute of Child Health, London, UK., Clement E; Department of Genetics, Great Ormond Street Hospital for Children, London, UK., Caiulo S; Department of Pediatric Endocrinology, Great Ormond Street Hospital for Children, London, UK., Shanmugananda P; Department of Pediatric Endocrinology, Great Ormond Street Hospital for Children, London, UK., Dattani M; Department of Pediatric Endocrinology, Great Ormond Street Hospital for Children, London, UK.; Genetics and Genomic Medicine Program, UCL Great Ormond Street Institute of Child Health, London, UK., Gilbert C; Department of Pediatric Endocrinology, Great Ormond Street Hospital for Children, London, UK., Hurst JA; Department of Genetics, Great Ormond Street Hospital for Children, London, UK., Shah P; Department of Pediatric Endocrinology, Great Ormond Street Hospital for Children, London, UK.; Genetics and Genomic Medicine Program, UCL Great Ormond Street Institute of Child Health, London, UK.
Publikováno v:
Clinical endocrinology [Clin Endocrinol (Oxf)] 2021 Mar; Vol. 94 (3), pp. 399-412. Date of Electronic Publication: 2021 Jan 31.
Autor:
Hurst JA; Department of Entomology, Cornell University, Ithaca, NY, 14853, USA.; Department of Plant Science, California State University, Fresno, CA, 93740, USA., Rayor LS; Department of Entomology, Cornell University, Ithaca, NY, 14853, USA. LSR1@cornell.edu.
Publikováno v:
Journal of comparative physiology. A, Neuroethology, sensory, neural, and behavioral physiology [J Comp Physiol A Neuroethol Sens Neural Behav Physiol] 2021 Mar; Vol. 207 (2), pp. 269-277. Date of Electronic Publication: 2021 Mar 20.
Autor:
Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York, USA., Radmanesh A; Division of Pediatric Neuroradiology, Department of Radiology, NYU School of Medicine, New York, New York, USA., Glass IA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, Division of Medical Genetics, University of Washington, Seattle, Washington, USA., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.; Department of Neurology, University of Washington, Seattle, Washington, USA., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Shieh JT; Institute for Human Genetics, Division of Medical Genetics, Department of Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, California, USA., Romoser S; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, Iowa, USA., Bombei H; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, Iowa, USA., Dowsett L; Kapi'olani Medical Specialists and Department of Pediatrics, University of Hawai'i John A. Burns School of Medicine, Honolulu, Hawaii, USA., Trapane P; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, Florida, USA., Bernat JA; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, Iowa, USA., Baker J; Genomic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA., Mendelsohn NJ; Genomic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA., Popp B; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Siekmeyer M; Department of Pediatrics Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Sorge I; Department of Pediatric Radiology, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Sansbury FH; All Wales Medical Genomics Service, Institute of Medical Genetics, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK., Watts P; Department of Ophthalmology, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK., Foulds NC; Wessex Clinical Genetics Services, Southampton University Hospital NHS Foundation Trust, Southampton, UK., Burton J; University of Illinois College of Medicine at Peoria, Peoria, Illinois, USA., Hoganson G; University of Illinois College of Medicine at Peoria, Peoria, Illinois, USA., Hurst JA; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK., Menzies L; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK., Osio D; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Kerecuk L; Renal Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Cobben JM; North West Thames Regional Genetic Services, Northwick Park Hospitals NHS Foundation Trust, London, UK.; Emma Children Hospital, Amsterdam, The Netherlands., Jizi K; CHU Sainte-Justine Hospital, Montreal, Quebec, Canada., Jacquemont S; CHU Sainte-Justine Research Centre, Montreal, Quebec, Canada.; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada., Bélanger SA; Development Clinic, CHU Sainte-Justine Hospital, Montreal, Quebec, Canada.; Department of Medicine, University of Montreal, Montreal, Quebec, Canada., Löhner K; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands., Veenstra-Knol HE; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands., Lemmink HH; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands., Keller-Ramey J; GeneDx, Gaithersburg, Maryland, USA., Wentzensen IM; GeneDx, Gaithersburg, Maryland, USA., Punj S; GeneDx, Gaithersburg, Maryland, USA., McWalter K; GeneDx, Gaithersburg, Maryland, USA., Lenberg J; Rady Children's Hospital Institute for Genomic Medicine, San Diego, California, USA., Ellsworth KA; Rady Children's Hospital Institute for Genomic Medicine, San Diego, California, USA., Radtke K; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA., Akbarian S; Friedman Brain Institute and Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York, USA.; Clinical Genetics, NYU Orthopedic Hospital, New York, New York, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Sep; Vol. 182 (9), pp. 2037-2048. Date of Electronic Publication: 2020 Jul 24.
Autor:
Alharatani R; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.; Paediatric Dentistry, Centre of Oral, Clinical and Translational Science, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE5 9RS, UK., Ververi A; Department of Clinical Genetics, Great Ormond Street Hospital Trust, London WC1N 3JH, UK., Beleza-Meireles A; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.; Department of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London SE1 9RT, UK., Ji W; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA., Mis E; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA., Patterson QT; Departments of Internal Medicine and Cell Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390-8856, USA., Griffin JN; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.; Pediatric Genomics Discovery Program, Departments of Genetics and Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA., Bhujel N; South Thames Cleft Service, Guy's and St. Thomas' NHS Foundation Trust, London SE1 7EH, UK., Chang CA; Department of Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, AB, Canada., Dixit A; Nottingham University Hospitals NHS Trust, Nottingham NG5 1PB, UK., Konstantino M; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA., Healy C; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK., Hannan S; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK., Neo N; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.; Tokyo Medical and Dental University, Tokyo, Japan., Cash A; South Thames Cleft Service, Guy's and St. Thomas' NHS Foundation Trust, London SE1 7EH, UK., Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Bhoj E; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Zackai EH; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Cleaver R; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK., Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK., McEntagart M; Department of Clinical Genetics, St George's Hospital, London SW17 0RE, UK., Newbury-Ecob R; Clinical Genetics, University Hospital Bristol NHS Foundation Trust, Bristol BS2 8EG, UK., Scott R; Department of Clinical Genetics, Great Ormond Street Hospital Trust, London WC1N 3JH, UK., Hurst JA; Department of Clinical Genetics, Great Ormond Street Hospital Trust, London WC1N 3JH, UK., Au PYB; Department of Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, AB, Canada., Hosey MT; Paediatric Dentistry, Centre of Oral, Clinical and Translational Science, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE5 9RS, UK., Khokha M; Pediatric Genomics Discovery Program, Departments of Genetics and Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA., Marciano DK; Departments of Internal Medicine and Cell Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390-8856, USA., Lakhani SA; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA., Liu KJ; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2020 Jul 21; Vol. 29 (11), pp. 1900-1921.
Autor:
Steel E; Central Lancashire Teaching Hospitals, Preston., Hurst JA; Departments of Clinical Genetics., Cullup T; Molecular Genetics, North East Thames Regional Genetics Service., Calder A; Radiology., Sivakumar B; Plastic Surgery., Shah P; Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Wilson LC; Departments of Clinical Genetics.
Publikováno v:
Clinical dysmorphology [Clin Dysmorphol] 2020 Apr; Vol. 29 (2), pp. 73-80.
Autor:
Menzies L; Great Ormond Street Hospital, London, UK. Electronic address: lara.menzies@gosh.nhs.uk., D'Arco F; Great Ormond Street Hospital, London, UK., Ganesan V; UCL Great Ormond Street Institute of Child Health, London, UK., Hurst JA; Great Ormond Street Hospital, London, UK.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2020 Apr; Vol. 63 (4), pp. 103785. Date of Electronic Publication: 2019 Oct 09.