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Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
Al-Olabi, Lara; Polubothu, Satyamaanasa; Dowsett, Katherine; Andrews, Katrina A; Stadnik, Paulina; Joseph, Agnel P; Knox, Rachel; Pittman, Alan; Clark, Graeme; Baird, William; Bulstrode, Neil; Glover, Mary; Gordon, Kristiana; Hargrave, Darren; Huson, Susan M; Jacques, Thomas S; James, Gregory; Kondolf, Hannah; Kangesu, Loshan; Keppler-Noreuil, Kim M; Khan, Amjad; Lindhurst, Marjorie J; Lipson, Mark; Mansour, Sahar; O'Hara, Justine; Mahon, Caroline; Mosica, Anda; Moss, Celia; Murthy, Aditi; Ong, Juling; Parker, Victoria E; Rivière, Jean-Baptiste; Sapp, Julie C; Sebire, Neil J; Shah, Rahul; Sivakumar, Branavan; Thomas, Anna; Virasami, Alex; Waelchli, Regula; Zeng, Zhiqiang; Biesecker, Leslie G; Barnacle, Alex; Topf, Maya; Semple, Robert K; Patton, E Elizabeth; Kinsler, Veronica A.
Afiliación
  • Al-Olabi L; Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Polubothu S; Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Dowsett K; Paediatric Dermatology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Andrews KA; MRC Human Genetics Unit and Cancer Research UK (CRUK) Edinburgh Centre, Medical Research Council (MRC) Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.
  • Stadnik P; Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.
  • Joseph AP; The National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, United Kingdom.
  • Knox R; Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Pittman A; Department of Biological Sciences, Birkbeck, University of London, London, United Kingdom.
  • Clark G; Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.
  • Baird W; The National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, United Kingdom.
  • Bulstrode N; Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom.
  • Glover M; Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Gordon K; Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Hargrave D; Plastic Surgery, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Huson SM; Paediatric Dermatology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Jacques TS; Dermatology and Lymphovascular Medicine, St. George's Hospital NHS Trust, London, United Kingdom.
  • James G; Paediatric Oncology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Kondolf H; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester, United Kingdom.
  • Kangesu L; Developmental Biology and Cancer Programme, UCL Great Ormond Street Institute of Child Health and Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Keppler-Noreuil KM; Paediatric Neurosurgery, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Khan A; National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
  • Lindhurst MJ; Plastic Surgery, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Lipson M; National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
  • Mansour S; Paediatric Dermatology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • O'Hara J; National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
  • Mahon C; Paediatrics and Clinical Genetics, Kaiser Permanente Medical Center, Sacramento, California, USA.
  • Mosica A; Clinical Genetics, St. George's Hospital NHS Trust, London, United Kingdom.
  • Moss C; Plastic Surgery, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Murthy A; Paediatric Dermatology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Ong J; Paediatric Dermatology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Parker VE; Paediatric Dermatology, Birmingham Women's and Children's NHS Foundation Trust Birmingham and University of Birmingham, Birmingham, United Kingdom.
  • Rivière JB; Paediatric Dermatology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Sapp JC; Plastic Surgery, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Sebire NJ; Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.
  • Shah R; The National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, United Kingdom.
  • Sivakumar B; McGill University Health Centre and Research Institute, Montréal, Quebec, Canada.
  • Thomas A; National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
  • Virasami A; Paediatric Pathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Waelchli R; Plastic Surgery, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Zeng Z; Plastic Surgery, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Biesecker LG; Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Barnacle A; Developmental Biology and Cancer Programme, UCL Great Ormond Street Institute of Child Health and Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Topf M; Paediatric Dermatology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Semple RK; MRC Human Genetics Unit and Cancer Research UK (CRUK) Edinburgh Centre, Medical Research Council (MRC) Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.
  • Patton EE; National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
  • Kinsler VA; Interventional Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
J Clin Invest ; 128(4): 1496-1508, 2018 04 02.
Article en En | MEDLINE | ID: mdl-29461977
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Proteínas ras / Sistema de Señalización de MAP Quinasas / MAP Quinasa Quinasa 1 / Alelos / Malformaciones Vasculares / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Animals / Child / Female / Humans / Infant / Male Idioma: En Revista: J Clin Invest Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Proteínas ras / Sistema de Señalización de MAP Quinasas / MAP Quinasa Quinasa 1 / Alelos / Malformaciones Vasculares / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Animals / Child / Female / Humans / Infant / Male Idioma: En Revista: J Clin Invest Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido