[HTML][HTML] European guidelines for constitutional cytogenomic analysis

M Silva, N de Leeuw, K Mann… - European Journal of …, 2019 - nature.com
With advancing technology and the consequent shift towards an increasing application of
molecular genetic techniques (eg, microarrays, next-generation sequencing) with the …

[HTML][HTML] Report from the European Myeloma Network on interphase FISH in multiple myeloma and related disorders

FM Ross, H Avet-Loiseau, G Ameye, NC Gutierrez… - …, 2012 - ncbi.nlm.nih.gov
Abstract The European Myeloma Network has organized two workshops on fluorescence in
situ hybridization in multiple myeloma. The first aimed to identify specific indications and …

Cytogenetic nomenclature and reporting

M Stevens-Kroef, A Simons, K Rack… - … : Methods and Protocols, 2017 - Springer
A standardized nomenclature is critical for the accurate and consistent description of
genomic changes as identified by karyotyping, fluorescence in situ hybridization and …

Optimizing the diagnostic workflow for acute lymphoblastic leukemia by optical genome mapping

K Rack, J De Bie, G Ameye, O Gielen… - American Journal of …, 2022 - Wiley Online Library
Acute lymphoblastic leukemia (ALL) is a malignancy that can be subdivided into distinct
entities based on clinical, immunophenotypic and genomic features, including mutations …

A framework for the clinical implementation of optical genome mapping in hematologic malignancies

B Levy, R Kanagal‐Shamanna… - American Journal of …, 2024 - Wiley Online Library
Abstract Optical Genome Mapping (OGM) is rapidly emerging as an exciting cytogenomic
technology both for research and clinical purposes. In the last 2 years alone, multiple studies …

Chronic lymphocytic leukemia and prolymphocytic leukemia with MYC translocations: a subgroup with an aggressive disease course

N Put, K Van Roosbroeck, P Konings, P Meeus… - Annals of …, 2012 - Springer
Translocations involving MYC are rare in chronic lymphocytic leukemia (CLL), and up to
now, their prognostic significance remains unclear. We report the characteristics of 21 …

Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16

AOM Wilkie, DR Higgs, KA Rack, VJ Buckle, NK Spurr… - Cell, 1991 - cell.com
We have completed a long-range restriction map of the terminal region of the short arm of
human chromosome 16 (16p13. 3) by physically linking a distal genetic locus (a-globin) with …

Guidelines for genomic array analysis in acquired haematological neoplastic disorders

J Schoumans, J Suela, R Hastings… - Genes …, 2016 - Wiley Online Library
Genetic profiling is important for disease evaluation and prediction of prognosis or
responsiveness to therapy in neoplasia. Microarray technologies, including array …

17q21. 31 microduplication patients are characterised by behavioural problems and poor social interaction

B Grisart, L Willatt, A Destrée, JP Fryns… - Journal of Medical …, 2009 - jmg.bmj.com
Background: Microdeletions at 17q21. 31 have recently been shown to cause a novel
syndrome. Here we identify the reciprocal 17q21. 31 duplication syndrome in 4 patients …

PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies

FP Duhoux, G Ameye… - British journal of …, 2012 - Wiley Online Library
Summary The PRDM16 (1p36) gene is rearranged in acute myeloid leukaemia (AML) and
myelodysplastic syndrome (MDS) with t (1; 3)(p36; q21), sharing characteristics with AML …