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  1. Article

    Open Access

    Heterogeneous MYCN amplification in neuroblastoma: a SIOP Europe Neuroblastoma Study

    In neuroblastoma (NB), the most powerful prognostic marker, the MYCN amplification (MNA), occasionally shows intratumoural heterogeneity (ITH), i.e. coexistence of MYCN-amplified and non-MYCN-amplified tumour cel...

    Ana P. Berbegall, Dominik Bogen, Ulrike Pötschger… in British Journal of Cancer (2018)

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    Article

    Novel SMARCAL1 Bi-allelic Mutations Associated with a Chromosomal Breakage Phenotype in a Severe SIOD Patient

    Chromosomal instability syndromes include a group of rare diseases characterized by defective DNA-damage-response and increased risk of chromosomal breakage. Patients display defects in the recognition and/or ...

    Amos J. Simon, Atar Lev, Marta Jeison, Zvi U. Borochowitz… in Journal of Clinical Immunology (2014)

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    Article

    Additional chromosome 1q aberrations and der(16)t(1;16), correlation to the phenotypic expression and clinical behavior of the Ewing family of tumors

    The cytogenetic hallmark of the Ewing family of tumors is t(11;22)(q24;q12) in its simple, complex or variant forms and/or its molecular equivalent EWS/FLI, EWS/ERG rearrangement. Additional secondary consiste...

    Batia Stark, Celia Mor, Marta Jeison, Rima Gobuzov… in Journal of Neuro-Oncology (1997)