Results 71 to 80 of about 425 (140)

EHA2024 Hybrid Congress

HemaSphere, Volume 8, Issue S1, June 2024.
wiley   +1 more source

Whole-genome sequencing of human malignant mesothelioma tumours and cell lines

, 2019
Pleural mesothelioma is a cancer of serosal surfaces caused by environmental exposure to asbestos. Clinical outcome remains poor and while trials of new treatments are ongoing it remains an understudied cancer.
Bowman, Rayleen V., Krause, Lutz, Chee, Tian Mun, Ellis, Jonathan J., Davidson, Morgan R., Yang, Ian A., Daniels, Marissa, Fong, Kwun M., Oey, Harald, Relan, Vandana   +9 more
core   +1 more source

Remaniements chromosomiques complexes : de la caractérisation aux conséquences fonctionnelles

, 2019
Human cytogenetics is a discipline aimed at studying the structure and function of the chromosomes of our species. In the early 2010's, genome sequencing revealed chromosomal rearrangements of as yet unknown complexity, termed chromoanagenesis.
Chatron, Nicolas
core  

Complex chromosal rearrangement : from precise molecular characterization to functional consequences

, 2019
La cytogénétique humaine est une discipline visant à l’étude de la structure et de la fonction des chromosomes de notre espèce. Au début des années 2010, le séquençage de génome a révélé des remaniements chromosomiques d’une complexité encore inconnue ...
Chatron, Nicolas
core  

Integrative optical genome mapping and long-read sequencing resolve constitutional complex rearrangements at nucleotide resolution

Complex rearrangements are one of the rarest types of structural variants (SVs) and can be divided into two categories: complex chromosomal rearrangements (CCRs) and complex genomic rearrangements (CGRs).
Eveline Kamping, Amber den Ouden, Ronny Derks, Bart van der Sanden, Wolfram Hops, Fernanda Teixeira Bellucco, Maria Isabel Melaragno, Raoul Timmermans, Alexander Hoischen, Ronald van Beek, Eduardo Perrone, Kornelia Neveling, Bruna Burssed, Marco Antonio Ramos   +13 more
core   +1 more source

A Peculiar CLL Case with Complex Chromosome 6 Rearrangements and Refinement of All Breakpoints at the Gene Level by Genomic Array: A Case Report. [PDF]

J Clin Med, 2023
Cennamo M, Sirocchi D, Giudici C, Giagnacovo M, Petracco G, Ferrario D, Garganigo S, Papa A, Veniani E, Squizzato A, Del Vecchio L, Patriarca C, Partenope M, Modena P.   +13 more
europepmc   +1 more source

CO15 | Optical genome mapping identifies multiple structural variation and catastrophic rearrangements in B-cell prolymphocytic leukemia

Haematologica
Introduction. B-cell prolymphocytic leukemia (B-PLL) is an extremely rare condition, accounting for less than 1% of all lymphoid leukemias. The identification of more than 55% of lymphocytes in the blood or bone marrow with prolymphocytic morphology is ...
Rossana Maffei
doaj  

Cancer Cytogenetics: Deep Roots, New Branches in the Age of Omics. [PDF]

Cancer Genomics Proteomics
Panagopoulos I.
europepmc   +1 more source

Resolving Complex Chromosomal Rearrangements and Rare Structural Variants: An Integrated Cytogenomic Analysis of Four Cases

Introduction: Structural variants (SVs) are genomic rearrangements ≥ 50 bp that alter copy number, orientation, or chromosomal location, and complex chromosomal rearrangements (CCRs) represent a rare SV subset characterized by three or more chromosomal ...
ÇİLİNGİR, OĞUZ, Aynacı, Sabri, Özbakır, Derya Hazal, Tosumoğlu, Efsun, KOCAGİL, SİNEM, Gökalp, Ebru Erzurumluoğlu, ARTAN, SEVİLHAN, Susam, Ezgi   +7 more
core   +1 more source

Toward a model of repeat-driven chromosomal fragility in Triticeae: an integrated structural omics perspective. [PDF]

BMC Genomics
Kwiatek MT.
europepmc   +1 more source