[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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
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 …
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 …
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
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 …
myelodysplastic syndrome (MDS) with t (1; 3)(p36; q21), sharing characteristics with AML …