Routine application of a novel MLPA-based first-line screening test uncovers clinically relevant copy number aberrations in haematological malignancies undetectable by conventional cytogenetics

Hematology

Volumn 19, Issue 4, 2014, Pages 217-224

  Konialis, Christopher ^a   Savola, Suvi ^b   Karapanou, Sophia ^a   Markaki, Aggeliki ^a   Bela, Maria Kara ^a   Polychronopoulou, Sophia ^c   Ampatzidou, Maria ^c   Michael, Voulgareu V ^d   Vinious, Nora Athina ^e   Variant, Eleni ^e   Koumarianou, Argyro ^f   Zoi, Katerina ^g   Hagnefelt, Birgitta ^a   Schouten, Jan P ^b   Pángalos, Constantinos ^a  

^a InterGenetics Diagnostic Genetics Centre   (Greece)

^b MRC HOLLAND   (Netherlands)

^c AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^d UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^e UNIVERSITY OF ATHENS   (Greece)

^f IASO GENERAL HOSPITAL   (Greece)

^g BIOMEDICAL RESEARCH FOUNDATION   (Greece)

Author keywords

Copy number aberrations; Haematological malignancies; Leukaemia; Multiple ligation dependent probe amplification

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A; IKAROS TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR ETV6; TRANSCRIPTION FACTOR RUNX1;

ADOLESCENT; ARTICLE; CDKN2A GENE; CDKN2B GENE; CHILD; CHROMOSOME ABERRATION; CONTROLLED STUDY; COPY NUMBER VARIATION; CYTOGENETICS; ETV6 GENE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE PROBE; HEMATOLOGIC MALIGNANCY; HUMAN; IKAROS GENE; KARYOTYPE; KARYOTYPING; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RB1 GENE; RUNX1 GENE; SCHOOL CHILD; SCREENING TEST; SENSITIVITY ANALYSIS; CHROMOSOME ANALYSIS; ECONOMICS; GENE DOSAGE; GENETICS; GENOMICS; HEMATOLOGIC DISEASE; PROCEDURES;

CHROMOSOME ABERRATIONS; CYTOGENETIC ANALYSIS; GENE DOSAGE; GENOMICS; HEMATOLOGIC NEOPLASMS; HUMANS;

EID: 84901401706     PISSN: 10245332     EISSN: 16078454     Source Type: Journal    
DOI: 10.1179/1607845413Y.0000000112     Document Type: Article

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