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Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.
Paperna, Tamar; Sharon-Shwartzman, Nitzan; Kurolap, Alina; Goldberg, Yael; Moustafa, Nivin; Carasso, Yariv; Feinstien, Miora; Mory, Adi; Reznick-Levi, Gili; Gonzaga-Jauregui, Claudia; Shuldiner, Alan R; Basel-Salmon, Lina; Ofran, Yishai; Half, Elizabeth E; Baris Feldman, Hagit.
Affiliation
  • Paperna T; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
  • Sharon-Shwartzman N; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
  • Kurolap A; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
  • Goldberg Y; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
  • Moustafa N; Raphael Recanati Genetics Institute, Rabin Medical Center - Beilinson Hospital, Petah Tikva, Israel.
  • Carasso Y; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
  • Feinstien M; Department of Haematology and Bone Marrow Transplantation, Rambam Health Care Campus, Haifa, Israel.
  • Mory A; Raphael Recanati Genetics Institute, Rabin Medical Center - Beilinson Hospital, Petah Tikva, Israel.
  • Reznick-Levi G; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
  • Gonzaga-Jauregui C; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
  • Shuldiner AR; Regeneron Genetics Center, Tarrytown, New York, USA.
  • Basel-Salmon L; Regeneron Genetics Center, Tarrytown, New York, USA.
  • Ofran Y; Raphael Recanati Genetics Institute, Rabin Medical Center - Beilinson Hospital, Petah Tikva, Israel.
  • Half EE; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Baris Feldman H; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
J Med Genet ; 57(7): 500-504, 2020 07.
Article in En | MEDLINE | ID: mdl-30858171
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Translocation, Genetic / Genetic Predisposition to Disease / Checkpoint Kinase 2 / Neoplasms Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: J Med Genet Year: 2020 Document type: Article Affiliation country: Israel Country of publication: United kingdom
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Translocation, Genetic / Genetic Predisposition to Disease / Checkpoint Kinase 2 / Neoplasms Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: J Med Genet Year: 2020 Document type: Article Affiliation country: Israel Country of publication: United kingdom