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High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.
de Kock, Leanne; Wang, Yu Chang; Revil, Timothée; Badescu, Dunarel; Rivera, Barbara; Sabbaghian, Nelly; Wu, Mona; Weber, Evan; Sandoval, Claudio; Hopman, Saskia M J; Merks, Johannes H M; van Hagen, Johanna M; Bouts, Antonia H M; Plager, David A; Ramasubramanian, Aparna; Forsmark, Linus; Doyle, Kristine L; Toler, Tonja; Callahan, Janine; Engelenberg, Charlotte; Bouron-Dal Soglio, Dorothée; Priest, John R; Ragoussis, Jiannis; Foulkes, William D.
Afiliação
  • de Kock L; Department of Human Genetics, McGill University, Montréal, Québec, Canada Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montréal, Québec, Canada.
  • Wang YC; Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, McGill University, Montréal, Québec, Canada.
  • Revil T; Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, McGill University, Montréal, Québec, Canada.
  • Badescu D; Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, McGill University, Montréal, Québec, Canada.
  • Rivera B; Department of Human Genetics, McGill University, Montréal, Québec, Canada Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montréal, Québec, Canada.
  • Sabbaghian N; Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montréal, Québec, Canada.
  • Wu M; Department of Human Genetics, McGill University, Montréal, Québec, Canada Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montréal, Québec, Canada.
  • Weber E; Department of Medical Genetics, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.
  • Sandoval C; Department of Pediatrics, New York Medical College and Maria Fareri Children's Hospital, Valhalla, New York, USA.
  • Hopman SM; Department of Pediatric Oncology, Emma Children's Hospital, Academic Medical Center, Amsterdam Zuidoost, The Netherlands.
  • Merks JH; Department of Pediatric Oncology, Emma Children's Hospital, Academic Medical Center, Amsterdam Zuidoost, The Netherlands.
  • van Hagen JM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • Bouts AH; Department of Pediatric Nephrology, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.
  • Plager DA; Glick Eye Institute, Indiana University School of Medicine, Indianapolis, Indiana, USA.
  • Ramasubramanian A; Glick Eye Institute, Indiana University School of Medicine, Indianapolis, Indiana, USA Department of Ophthalmology, University of Louisville, Kentucky, USA.
  • Forsmark L; Agilent Technologies, Santa Clara, California, USA.
  • Doyle KL; North Hills, California, USA.
  • Toler T; Petersburg, Indiana, USA.
  • Callahan J; Mahopac, New York, USA.
  • Engelenberg C; Amsterdam, The Netherlands.
  • Bouron-Dal Soglio D; Department of Pathology, CHU-Sainte Justine and University of Montreal, Montréal, Québec, Canada.
  • Priest JR; Minneapolis, Minnesota, USA.
  • Ragoussis J; Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, McGill University, Montréal, Québec, Canada.
  • Foulkes WD; Department of Human Genetics, McGill University, Montréal, Québec, Canada Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montréal, Québec, Canada Department of Medical Genetics, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada Program in Cancer
J Med Genet ; 53(1): 43-52, 2016 Jan.
Article em En | MEDLINE | ID: mdl-26475046
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ribonuclease III / RNA Helicases DEAD-box / Estudos de Associação Genética / Sequenciamento de Nucleotídeos em Larga Escala / Mosaicismo / Mutação / Neoplasias Primárias Múltiplas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Canadá
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ribonuclease III / RNA Helicases DEAD-box / Estudos de Associação Genética / Sequenciamento de Nucleotídeos em Larga Escala / Mosaicismo / Mutação / Neoplasias Primárias Múltiplas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Canadá