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Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.
Sabatella, Mariangela; Mantere, Tuomo; Waanders, Esmé; Neveling, Kornelia; Mensenkamp, Arjen R; van Dijk, Freerk; Hehir-Kwa, Jayne Y; Derks, Ronnie; Kwint, Michael; O'Gorman, Luke; Tropa Martins, Madalena; Gidding, Corrie Em; Lequin, Maarten H; Küsters, Benno; Wesseling, Pieter; Nelen, Marcel; Biegel, Jacklyn A; Hoischen, Alexander; Jongmans, Marjolijn C; Kuiper, Roland P.
  • Sabatella M; Princess Máxima Centre for Pediatric Oncology, Utrecht, The Netherlands.
  • Mantere T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Waanders E; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Neveling K; Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, Oulu, Finland.
  • Mensenkamp AR; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van Dijk F; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hehir-Kwa JY; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Derks R; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kwint M; Princess Máxima Centre for Pediatric Oncology, Utrecht, The Netherlands.
  • O'Gorman L; Princess Máxima Centre for Pediatric Oncology, Utrecht, The Netherlands.
  • Tropa Martins M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gidding CE; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Lequin MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Küsters B; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Wesseling P; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Nelen M; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Biegel JA; Princess Máxima Centre for Pediatric Oncology, Utrecht, The Netherlands.
  • Hoischen A; Princess Máxima Centre for Pediatric Oncology, Utrecht, The Netherlands.
  • Jongmans MC; Department of Radiology, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Kuiper RP; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.
J Pathol ; 255(2): 202-211, 2021 10.
Article en En | MEDLINE | ID: mdl-34231212
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Teratoma / Mapeo Cromosómico / Tumor Rabdoide / Retroelementos / Proteína SMARCB1 Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Teratoma / Mapeo Cromosómico / Tumor Rabdoide / Retroelementos / Proteína SMARCB1 Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn Idioma: En Año: 2021 Tipo del documento: Article