Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases

L Stuppia, I Antonucci, G Palka, V Gatta - International journal of …, 2012 - mdpi.com
Multiplex Ligation-dependent Probe Amplification (MLPA) assay is a recently developed
technique able to evidence variations in the copy number of several human genes. Due to …

Detection of prognostically relevant genetic abnormalities in childhood B‐cell precursor acute lymphoblastic leukaemia: recommendations from the Biology and …

CJ Harrison, O Haas, J Harbott, A Biondi… - British journal of …, 2010 - Wiley Online Library
Treatment of childhood acute lymphoblastic leukaemia (ALL) has improved considerably in
recent years. A contributing factor has been the improved stratification for treatment …

High-dose cytarabine does not overcome the adverse prognostic value of CDKN2A and TP53 deletions in mantle cell lymphoma

MH Delfau-Larue, W Klapper, F Berger… - Blood, The Journal …, 2015 - ashpublications.org
We revisited the prognostic value of frequently detected somatic gene copy number
alterations (CNAs) in mantle cell lymphoma (MCL) patients treated first line with …

Evaluation of multiplex ligation‐dependent probe amplification as a method for the detection of copy number abnormalities in B‐cell precursor acute lymphoblastic …

CJ Schwab, LR Jones, H Morrison… - Genes …, 2010 - Wiley Online Library
Recent genomic studies have shown that copy number abnormalities (CNA) of genes
involved in lymphoid differentiation and cell cycle control are common in B‐cell precursor …

AICAR induces apoptosis independently of AMPK and p53 through up-regulation of the BH3-only proteins BIM and NOXA in chronic lymphocytic leukemia cells

AF Santidrián, DM González-Gironès… - Blood, The Journal …, 2010 - ashpublications.org
Aminoimidazole-4-carboxamide riboside or acadesine (AICAR) induces apoptosis in
chronic lymphocytic leukemia (CLL) cells. A clinical study of AICAR is currently being …

Atypical spindle cell lipoma: a clinicopathologic, immunohistochemical, and molecular study emphasizing its relationship to classical spindle cell lipoma

D Creytens, J van Gorp, S Savola, L Ferdinande… - Virchows Archiv, 2014 - Springer
We studied a series of spindle cell lipomas arising in atypical sites and showing unusual
morphologic features (which we called atypical spindle cell lipoma) to assess if these …

[HTML][HTML] Digital multiplex ligation-dependent probe amplification for detection of key copy number alterations in T-and B-cell lymphoblastic leukemia

A Benard-Slagter, I Zondervan, K de Groot… - The Journal of Molecular …, 2017 - Elsevier
Recurrent and clonal genetic alterations are characteristic of different subtypes of T-and B-
cell lymphoblastic leukemia (ALL), and several subtypes are strong independent predictors …

A molecular diagnostic approach able to detect the recurrent genetic prognostic factors typical of presenting myeloma

EM Boyle, PZ Proszek, MF Kaiser… - Genes …, 2015 - Wiley Online Library
Risk stratification in myeloma requires an accurate assessment of the presence of a range of
molecular abnormalities including the differing IGH translocations and the recurrent copy …

[HTML][HTML] Cytogenetics in the management of hematological malignancies: an overview of alternative technologies for cytogenetic characterization

V Lestringant, H Guermouche-Flament… - Current Research in …, 2024 - Elsevier
Genomic characterization is an essential part of the clinical management of hematological
malignancies for diagnostic, prognostic and therapeutic purposes. Although CBA and FISH …

Comprehensive chronic lymphocytic leukemia diagnostics by combined multiplex ligation dependent probe amplification (MLPA) and interphase fluorescence in situ …

E Alhourani, M Rincic, MAK Othman, B Pohle… - Molecular …, 2014 - Springer
Background Banding-karyotyping and metaphase-directed-fluorescence-in-situhybridization
(FISH) may be hampered by low mitotic index in leukemia. Interphase FISH (iFISH) is a way …