-
1دورية أكاديمية
المؤلفون: Sherr, Elliott, Jenkinson, EM, Rodero, MP, Kasher, PR, Uggenti, C, Oojageer, A, Goosey, LC, Rose, Y, Kershaw, CJ, Urquhart, JE, Williams, SG
URL الوصول: https://escholarship.org/uc/item/5c0848w3
-
2
المؤلفون: Hochberg, I, Demain, LAM, Richer, J, Thompson, K, Pagarkar, W, Seuma, ARP, Verdura, E, Pujol, A, Amberger, A, Deutschmann, AJ, Demetz, S, O'Sullivan, J, Gillespie, M, Belyantseva, IA, McMillan, HJ, Barzik, M, Urquhart, JE, Rea, A, Beaman, GM, Williams, SG, Bhaskar, SS, Lawrence, IR, Jenkinson, EM, Zambonin, JL, Blumenfeld, Z, Yalonetsky, S, Oerum, S, Rossmanith, W, Yue, WW, Zschocke, J, Munro, KJ, Battersby, BJ, Friedman, TB, Taylor, RW, O'Keefe, RT, Newman, WG
المصدر: European Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname -
3
المؤلفون: Rice, Gi, Del Toro Duany, Y, Jenkinson, Em, Forte, Gm, Anderson, Bh, Ariaudo, G, Bader-Meunier, B, Baildm, Em, Battini, R, Beresford, Mw, Casarano, M, Chouchane, M, Cimaz, R, Collins, Ae, Cordeiro, Nj, Dale, Rc, Davidson, Je, Waelel, De, Desguerre, I, Faivre, L, Fazzi, E, Isidor, B, Lagae, L, Larchman, Ar, Lebon, P, Li, C, Livingston, Jh, Lourenço, Cm, Mancardi, Mm, Masurel-Paulet, A, Mcinnes, Ib, Menezes, Mp, Mignot, C, O'Sullivan, J, Orcesi, S, Picco, Pp, Riva, E, Robinson, Ra, Rodriguez, D, Salvatici, E, Scott, C, Szybowska, M, Tolmie, Jl, Vanderver, A, Vanhulle, C, Vieira, Jp, Webb, K, Whitney, Rn, Williams, Sg, Wolfe, La, Zuberi, Sm, Hur, S, Crow, Yj
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3728::6511a69cdd6ee2ca56e9c531cb27d106
http://hdl.handle.net/11568/951205 -
4دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
5دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
6
المؤلفون: Davis, Deirdre D. Cilliers, Sarju G. Mehta, Christopher P. Bennett, Jill Clayton-Smith, Emma M. Jenkinson, Dorothy Trump, De Michele G, Gerard S. Conway, Andrew Green, Moreton N, Simon H. S. Pearce, Willie Reardon, William G. Newman
المساهمون: Jenkinson, Em, Clayton Smith, J, Mehta, S, Bennett, C, Reardon, W, Green, A, Pearce, Sh, DE MICHELE, Giuseppe, Conway, G, Cilliers, D, Moreton, N, Davis, Jr, Trump, D, Newman, W. G.
المصدر: Journal of neurology. 259(5)
مصطلحات موضوعية: Family Health, Male, Perrault syndrome, 17-Hydroxysteroid Dehydrogenases, Genetic heterogeneity, Learning Disabilities, Developmental Disabilities, Hearing Loss, Sensorineural, Biology, Gonadal Dysgenesis, 46,XX, Amino Acyl-tRNA Synthetases, Genetic Heterogeneity, Phenotype, Neurology, Evolutionary biology, Mutation, Humans, Female, Neurology (clinical), Peroxisomal Multifunctional Protein-2, Hydro-Lyases, Neuroradiology
وصف الملف: ELETTRONICO
-
7
المؤلفون: Ram L. Kumar, Marjo S. van der Knaap, Sanjeev S. Bhaskar, Pierre-Yves Jeannet, John B.P. Stephenson, Gillian I. Rice, Joel Victor Fluss, James O'Sullivan, Raphael Schiffmann, Johannes A. Buckard, Andrea Whitney, Riyana Babul-Hirji, Catheline Vilain, Beverley Anderson, Yanick J. Crow, Emma M. Jenkinson, Gunnar Houge, Ewan Forrest, Vanessa Wermenbol, Peter Baxter, Sarah B. Daly, Marcin Szynkiewicz, Joanne Muter, Rosalind J. Jefferson, Wui K. Chong, Elisabeth Oppliger Leibundgut, Gabriela M. Baerlocher, Stefan Meyer, Jonathan E. Dickerson, Ramesh Mehta, Emma Wakeling, Sarah Risen, José Pedro Vieira, Sakkubai Naidu, Andrea Berger, Calvin Soh, John H. Livingston, David Chitayat, Staffan Lundberg, Simon C. Lovell, Luís Catela Nunes, Helen Stewart, Graeme C.M. Black, John Tolmie, Janice E Brunstom-Hernandez, Jill E. Urquhart, Josephine Mayer, Ghada M H Abdel-Salem, Paul R. Kasher, Charles Marques Lourenço, Simon Hammans, Emilio Franzoni, Caterina Garone, Katrin Õunap, Duccio Maria Cordelli, Prab Prabhakar, Ken K. Nischal, Luisa Bonafé, Michel Philippart, Sébastien Jacquemont, Patrick Ferreira, Imelda Hughes, Jon Stone, Georg Kutschke
المساهمون: Fluss, Joel Victor, Jeannet, Pierre-Yves, Pediatric surgery, NCA - Childhood White Matter Diseases, Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ, Other departments, Neuroscience Campus Amsterdam - Childhood White Matter Diseases
المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Nature Genetics, Vol. 44, No 3 (2012) pp. 338-42
Anderson, B H, Kasher, P R, Mayer, J, Szynkiewicz, M, Jenkinson, E M, Bhaskar, S S, Urquhart, J E, Daly, S B, Dickerson, J E, O'Sullivan, J, Leibundgut, E O, Muter, J, Abdel-Salem, G M H, Babul-Hirji, R, Baxter, P, Berger, A, Bonafe, L, Brunstom-Hernandez, J E, Buckard, J A, Chitayat, D, Chong, W K, Cordelli, D M, Ferreira, P, Fluss, J, Forrest, E H, Franzoni, E, Garone, C, Hammans, S R, Houge, G, Hughes, I, Jacquemont, S, Jeannet, P Y, Jefferson, R J, Kumar, R, Kutschke, G, Lundberg, S, Lourenco, C M, Mehta, R, Naidu, S, Nischal, K K, Nunes, L, Ounap, K, Philippart, M, Prabhakar, P, Risen, S R, Schiffmann, R, Soh, C, Stephenson, J B P, Stewart, H, Stone, J, Tolmie, J L, van der Knaap, M S, Vieira, J P, Vilain, C N, Wakeling, E L, Wermenbol, V, Whitney, A, Lovell, S C, Meyer, S, Livingston, J H, Baerlocher, G M, Black, G C M, Rice, G I & Crow, Y J 2012, ' Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus ', Nature Genetics, vol. 44, no. 3, pp. 338-U1604 . https://doi.org/10.1038/ng.1084
Nature Genetics, 44(3), 338-U1604. Nature Publishing Group
Nature genetics, 44(3), 338-342. Nature Publishing Groupمصطلحات موضوعية: DNA polymerase, Molecular Sequence Data, Telomere-Binding Proteins, Histones/metabolism, HDE GEN, HDE NEU PED, CST complex, CEREBRORETINAL MICROANGIOPATHY, FAMILIAL SYNDROME, CALCIFICATIONS, CYSTS, PROTEIN, DNA, LEUKOENCEPHALOPATHY, EVOLUTION, DEFECTS, Histones, chemistry.chemical_compound, Abnormalities, Multiple/genetics, Genetics, medicine, Abnormalities, Multiple, Genetic Predisposition to Disease, Telomere-binding protein, Telomere/pathology, ddc:618, biology, Base Sequence, Genetic Predisposition to Disease/genetics, DNA replication, Sequence Analysis, DNA, Telomere, medicine.disease, Flow Cytometry, Cell biology, Retinal Telangiectasis/genetics/pathology, chemistry, Sequence Analysis, DNA/methods, biology.protein, Retinal Telangiectasis, Primase, Telomere-Binding Proteins/genetics, DNA, Dyskeratosis congenita
وصف الملف: STAMPA
-
8دورية أكاديمية
المؤلفون: Hochberg I; Institute of Endocrinology, Diabetes, and Metabolism, Rambam Health Care Campus, Haifa 3109601, Israel; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3109601, Israel., Demain LAM; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Richer J; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Thompson K; Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Urquhart JE; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Rea A; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Pagarkar W; Royal National ENT and Eastman Dental Hospital, University College London Hospitals, London WC1E 6DG, UK., Rodríguez-Palmero A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, and Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain; Paediatric Neurology Unit, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, 08916 Barcelona, Spain., Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, and Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain., Verdura E; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, and Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, and Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain; Catalan Institution for Research and Advanced Studies, 08010 Barcelona, Spain., Quijada-Fraile P; Unit of Mitochondrial and Inherited Metabolic Diseases, Pediatric Department, University Hospital 12 de Octubre, National Reference Center, European Reference Network for Hereditary Metabolic Disorders, 28041 Madrid, Spain., Amberger A; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Deutschmann AJ; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Demetz S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Gillespie M; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Belyantseva IA; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, USA., McMillan HJ; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Barzik M; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, USA., Beaman GM; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Motha R; The Royal London Hospital, Whitechapel Road, Whitechapel, London E1 1FR, UK., Ng KY; Institute of Biotechnology, University of Helsinki, 00790 Helsinki, Finland., O'Sullivan J; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Williams SG; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Bhaskar SS; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Lawrence IR; Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Jenkinson EM; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK., Zambonin JL; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Blumenfeld Z; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3109601, Israel., Yalonetsky S; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada; Department of Pediatric Cardiology, Rambam Health Care Campus, Haifa 3109601, Israel., Oerum S; Newcastle MX Structural Biology Laboratory, Newcastle University, Medical School, NUBI Framlington Place, Newcastle upon Tyne NE2 4HH, UK., Rossmanith W; Center for Anatomy and Cell Biology, Medical University of Vienna, 1090 Vienna, Austria., Yue WW; Newcastle MX Structural Biology Laboratory, Newcastle University, Medical School, NUBI Framlington Place, Newcastle upon Tyne NE2 4HH, UK., Zschocke J; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Munro KJ; Manchester Centre for Audiology and Deafness, School of Health Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Battersby BJ; Institute of Biotechnology, University of Helsinki, 00790 Helsinki, Finland., Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, USA., Taylor RW; Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., O'Keefe RT; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK. Electronic address: rokeefe@manchester.ac.uk., Newman WG; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address: william.newman@manchester.ac.uk.
مؤلفون مشاركون: Genomics England Research Consortium
المصدر: American journal of human genetics [Am J Hum Genet] 2021 Nov 04; Vol. 108 (11), pp. 2195-2204. Date of Electronic Publication: 2021 Oct 28.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
مواضيع طبية MeSH: Alleles* , Genetic Pleiotropy*, Mitochondria/*enzymology , RNA, Mitochondrial/*genetics , RNA, Transfer/*genetics , Ribonuclease P/*genetics, Adult ; Female ; Humans ; Male ; Pedigree
-
9دورية أكاديمية
المؤلفون: Crow YJ; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Université de Paris, Paris, France., Marshall H; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Rice GI; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK., Seabra L; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Université de Paris, Paris, France., Jenkinson EM; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK., Baranano K; Department of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Battini R; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy., Berger A; Department of Neuropediatrics, Kliniken Nordoberpfalz AG, Germany., Blair E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Blauwblomme T; Paediatric Neurosurgery Department, Necker-Enfants Malades Hospital, APHP, Université de Paris, Paris, France., Bolduc F; Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada., Boddaert N; Paediatric Radiology Department, Hôpital Necker Enfants Malades, AP-HP, University de Paris, INSERM U1163, Institut Imagine, Paris, France., Buckard J; Department of Neuropediatrics, Sozialpädiatrisches Zentrum am EVK Düsseldorf, Düsseldorf, Germany., Burnett H; HNEkidsRehab, Newcastle, New South Wales, Australia., Calvert S; Neurosciences Department, Queensland Children's Hospital, Brisbane, Queensland, Australia., Caumes R; Clinique de Génétique Guy Fontaine, CHU Lille, Lille, France., Ng AC; Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada., Chiang D; Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada., Clifford DB; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA., Cordelli DM; Child Neurology and Psychiatry Unit, Department of Medical and Surgical Sciences (DIMEC), S. Orsola Hospital, University of Bologna, Italy., de Burca A; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Demic N; Department of Neurology, Vestfold Hospital, Tønsberg, Norway., Desguerre I; Department of Paediatric Neurology, Université de Paris, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., De Waele L; Department of Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium.; Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Di Fonzo A; Foundation IRCCS Ca 'Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Dunham SR; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA., Dyack S; Division of Medical Genetics, Dalhousie University, Halifax, Nova Scotia, Canada., Elmslie F; South West Thames Regional Genetics Service, St George's, University of London, London, UK., Ferrand M; Department of Neurology, CHRU Nancy, Nancy, France., Fisher G; Department of Paediatric Neurology, University Hospital of Wales, Cardiff, UK., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Ghoumid J; Clinique de Génétique Guy Fontaine, CHU Lille, Lille, France., Gibbon F; Department of Paediatric Neurology, University Hospital of Wales, Cardiff, UK., Goel H; Hunter Genetics, Hunter New England Local Health District, Waratah, Australia.; School of Medicine and Public Health, University of Newcastle, Callaghan, Australia., Hilmarsen HT; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Hughes I; Department of Paediatric Neurology, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Jacob A; Department of Neurology, The Walton Centre NHS Trust, Liverpool, UK.; Department of Neurology, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates., Jones EA; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.; Clinical Genetic Service, Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Kumar R; Department of Paediatric Neurology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK., Leventer RJ; Department of Neurology Royal Children's Hospital, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., MacDonald S; Maritime Medical Genetics, IWK Health Centre, Halifax, Nova Scotia, Canada., Maroofian R; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London, UK., Mehta SG; East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, UK., Metz I; Department of Neuropathology, University Medical Center, Georg August University, Göttingen, Germany., Monfrini E; Foundation IRCCS Ca 'Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Neumann D; Klinikum Wilhelmshaven, Department of Neuropediatrics, Germany., Noetzel M; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Department of Pediatrics, Washington University School of Medicine, St. Louis, Washington, USA., O'Driscoll M; West Midlands Regional Clinical Genetics Service, Birmingham Health Partners, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK., Õunap K; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Panzer A; Paediatric Neurology, DRK Kliniken Berlin-Westend, Berlin, Germany., Parikh S; Neurogenetics Program, Center for Pediatric Neurology, Neurosciences Institute, Cleveland Clinic, Cleveland, Ohio, USA., Prabhakar P; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Ramond F; Service de Génétique, CHU-Hôpital Nord, Saint Etienne, France., Sandford R; Academic Department of Medical Genetics, University of Cambridge School of Clinical Medicine, Cambridge, UK., Saneto R; Neuroscience Institute, Division of Paediatric Neurology, Seattle Children's Hospital and University of Washington, Seattle, Washington, USA.; Department of Neurology, Seattle Children's Hospital and University of Washington, Seattle, Washington, USA., Soh C; Radiology Department, Manchester University Foundation NHS Trust, Manchester, UK., Stutterd CA; Victorian Clinical Genetics Service, Parkville, Australia., Subramanian GM; Department of Paediatric Neurology, John Hunter Children's Hospital, New Lambton Heights, New South Wales, Australia., Talbot K; Nuffield Department of Clinical Neurosciences, Oxford University, Oxford, UK., Thomas RH; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Toro C; NIH Undiagnosed Diseases Program (UDP), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Touraine R; Neuroscience Institute, Division of Paediatric Neurology, Seattle Children's Hospital and University of Washington, Seattle, Washington, USA., Wakeling E; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Wassmer E; Department of Paediatric Neurology, Birmingham Children's Hospital, Birmingham, UK., Whitney A; University Hospital Southampton NHS Foundation Trust, Department of Paediatric Neurology, Southampton, UK., Livingston JH; Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK., O'Keefe RT; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK., Badrock AP; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jan; Vol. 185 (1), pp. 15-25. Date of Electronic Publication: 2020 Oct 07.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
مواضيع طبية MeSH: Genetic Association Studies*, Calcinosis/*genetics , Leukoencephalopathies/*genetics , RNA, Small Nucleolar/*genetics, Adolescent ; Adult ; Aged ; Animals ; Calcinosis/complications ; Calcinosis/pathology ; Child ; Child, Preschool ; Consanguinity ; Disease Models, Animal ; Female ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Leukoencephalopathies/complications ; Leukoencephalopathies/pathology ; Male ; Middle Aged ; Pathology, Molecular ; Young Adult ; Zebrafish/genetics
-
10دورية أكاديمية
المؤلفون: Badrock AP; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK. Electronic address: andrew.badrock@igmm.ed.ac.uk., Uggenti C; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK; Université de Paris, Paris, France; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France., Wacheul L; RNA Molecular Biology, ULB Cancer Research Center (U-CRC), Center for Microscopy and Molecular Imaging (CMMI), Fonds de la Recherche Scientifique (F.R.S.-FNRS), Université Libre de Bruxelles (ULB), BioPark Campus, B-6041, Gosselies, Belgium., Crilly S; Division of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, M13 9PT, UK., Jenkinson EM; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PT, UK., Rice GI; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PT, UK., Kasher PR; Division of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, M13 9PT, UK., Lafontaine DLJ; RNA Molecular Biology, ULB Cancer Research Center (U-CRC), Center for Microscopy and Molecular Imaging (CMMI), Fonds de la Recherche Scientifique (F.R.S.-FNRS), Université Libre de Bruxelles (ULB), BioPark Campus, B-6041, Gosselies, Belgium., Crow YJ; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK; Université de Paris, Paris, France; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France., O'Keefe RT; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PT, UK. Electronic address: rokeefe@manchester.ac.uk.
المصدر: American journal of human genetics [Am J Hum Genet] 2020 May 07; Vol. 106 (5), pp. 694-706. Date of Electronic Publication: 2020 Apr 30.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
مواضيع طبية MeSH: Alleles* , Mutation*, Calcinosis/*genetics , Central Nervous System Cysts/*genetics , Cysts/*genetics , Leukoencephalopathies/*genetics , RNA, Small Nucleolar/*genetics , Zebrafish/*genetics, Animals ; Base Sequence ; Calcinosis/pathology ; Central Nervous System Cysts/pathology ; Conserved Sequence ; Disease Models, Animal ; Embryonic Development/genetics ; Humans ; Leukoencephalopathies/pathology ; Tumor Suppressor Protein p53/genetics ; Tumor Suppressor Protein p53/metabolism ; Zebrafish/embryology ; Zebrafish Proteins/genetics ; Zebrafish Proteins/metabolism
Find this article in full text from Springer Verlag.