Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with noonan syndrome
- Author
- KAROW, A1 ; STEINEMANN, D2 ; KRATZ, C. P1 ; GÖHRING, G2 ; HASLE, H3 ; GREINER, J4 ; HARILA-SAARI, A5 ; FLOTHO, C1 ; ZENKER, M6 ; SCHLEGELBERGER, B2 ; NIEMEYER, C. M1
[1] Department of Pediatrics, University of Freiburg, Freiburg, Germany
[2] Lnstitute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany
[3] Department of Pediatrics, Skejby Hospital, Aarhus University, Aarhus, Denmark
[4] Department of Pediatric Hematology and Oncology, Children's Hospital of Eastern, St Gallen, Switzerland
[5] Department of Pediatrics, University of Oulu, Oulu, Finland
[6] Lnstitute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany - Source
Leukemia. 2007, Vol 21, Num 6, pp 1303-1305, 3 p ; ref : 11 ref
- CODEN
- LEUKED
- ISSN
- 0887-6924
- Scientific domain
- Medical oncology; Hematology
- Publisher
- Nature Publishing, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Acquis Cellule blastique Disomie uniparentale Duplication Génétique Homme Hématologie Leucémie aiguë Lignée germinale Mutation Noonan syndrome Gène PTPN11 Hémopathie maligne lymphoïde Leucémie aiguë lymphoblastique Aberration chromosomique Appareil circulatoire pathologie Hémopathie maligne Lymphoprolifératif syndrome Maladie héréditaire Ostéochondrodysplasie Système nerveux pathologie Système ostéoarticulaire pathologie
- Keyword (en)
- Acquired Blast Uniparental disomy Duplication Genetics Human Hematology Acute leukemia Germ line Mutation Noonan syndrome PTPN11 gene Lymphoid neoplasm Acute lymphocytic leukemia Chromosomal aberration Cardiovascular disease Malignant hemopathy Lymphoproliferative syndrome Genetic disease Osteochondrodysplasia Nervous system diseases Diseases of the osteoarticular system
- Keyword (es)
- Adquirido Blasto Disomia uniparental Duplicación Genética Hombre Hematología Leucemia aguda Línea germinal Mutación Noonan síndrome Leucemia aguda linfoblástica Aberración cromosómica Aparato circulatorio patología Hemopatía maligna Linfoproliferativo síndrome Enfermedad hereditaria Osteocondrodisplasia Sistema nervioso patología Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B19 Hematologic and hematopoietic diseases / 002B19B Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
- Discipline
- Blood diseases Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18797433
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/sj.leu.2404651 
https://dx.doi.org/10.1038/sj.leu.2404651
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