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pro vyhledávání: '"Kawasaki de Araujo T"'
Autor:
Kawasaki De Araujo, T., Lustosa-Mendes, E., Dos Santos, A.P., Coelho Molck, M., Mazzariol Volpe-Aquino, R., Gil-Da-Silva-Lopes, V.L.
The TP63 gene has been described in 5 overlapping limb malformation disorders, including a rare autosomal dominant ectodermal disorder named acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome. This article describes 2 patients with ectrodactyly and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::160f5fea0868b9598957723452654c7d
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Akademický článek
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Autor:
Binks SNM; Oxford Autoimmune Neurology Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.; Department of Neurology, John Radcliffe Hospital, Oxford, OX3 9DU, UK.; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK., Elliott KS; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK., Muñiz-Castrillo S; Stanford Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, CA 94304, USA., Gilbert E; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Dublin 2, Ireland.; FutureNeuro SFI Research Centre, Royal College of Surgeons in Ireland, Dublin, Dublin 2, Ireland., Kawasaki de Araujo T; Department of Translational Medicine, School of Medical Sciences, University of Campinas - UNICAMP, CEP 13083-888 - Campinas, Brazil., Harper AR; Clinical Development, Research and Early Development, Respiratory and Immunology (R&I), BioPharmaceuticals R&D, AstraZeneca, Cambridge, CB2 0AA, UK., Brown AC; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK., Chong AY; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK., Band G; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK., Peris Sempere V; Stanford Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, CA 94304, USA., Pinto AL; French Reference Centre for Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis, Hospices Civils de Lyon, MeLiS - UCBL-CNRS UMR 5284 - INSERM U1314, Université Claude Bernard Lyon 1, Lyon, France., Costantino F; Université Paris-Saclay, UVSQ, INSERM UMR1173, Infection et inflammation, Laboratory of Excellence INFLAMEX, France.; Rheumatology Department, APHP, Ambroise Paré Hospital, 92100, France., Rayner NW; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK.; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 9DU, UK.; Department of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.; Institute of Translational Genomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, D-85764, Germany., Mentzer AJ; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK.; Nuffield Department of Medicine, University of Oxford, Old Road Campus, Oxford, OX3 7BN, UK., Delanty N; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Dublin 2, Ireland.; FutureNeuro SFI Research Centre, Royal College of Surgeons in Ireland, Dublin, Dublin 2, Ireland., Rogemond V; French Reference Centre for Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis, Hospices Civils de Lyon, MeLiS - UCBL-CNRS UMR 5284 - INSERM U1314, Université Claude Bernard Lyon 1, Lyon, France., Picard G; French Reference Centre for Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis, Hospices Civils de Lyon, MeLiS - UCBL-CNRS UMR 5284 - INSERM U1314, Université Claude Bernard Lyon 1, Lyon, France., Handel AE; Oxford Autoimmune Neurology Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.; Department of Neurology, John Radcliffe Hospital, Oxford, OX3 9DU, UK., Melzer N; Department of Neurology, Medical Faculty and University Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, 40204, Germany., Titulaer MJ; Department of Neurology, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands., Lee ST; Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, 03080, South Korea., Leypoldt F; Department of Neurology, University Hospital Schleswig-Holstein, Kiel, 24105, Germany.; Institute of Clinical Chemistry, University Hospital Schleswig-Holstein Kiel, 24105/Lübeck, 23538, Germany., Kuhlenbaeumer G; Department of Neurology, University Hospital Schleswig-Holstein, Kiel, 24105, Germany., Honnorat J; French Reference Centre for Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis, Hospices Civils de Lyon, MeLiS - UCBL-CNRS UMR 5284 - INSERM U1314, Université Claude Bernard Lyon 1, Lyon, France., Mignot E; Stanford Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, CA 94304, USA., Cavelleri GL; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Dublin 2, Ireland., Knight JC; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK., Irani SR; Oxford Autoimmune Neurology Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.; Department of Neurosciences, Mayo Clinic, Jacksonville, FL 32224, USA.; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Oct 26. Date of Electronic Publication: 2024 Oct 26.