Results 241 to 250 of about 36,869 (295)

Methylation aberrations and genomic instability synergistically drive the evolution of intrahepatic cholangiocarcinoma. [PDF]

Epigenomics
Li G, Bai Y, Tao F, Hu T, Wang T, Zeng Y, Sun D.   +6 more
europepmc   +1 more source

Genocopy of EVI1‐AML with paraneoplastic diabetes insipidus: PRDM16 overexpression by t(1;2)(p36;p21) and enhancer hijacking

British Journal of Haematology, EarlyView.
Summary Diabetes insipidus (DI) in patients with acute myeloid leukaemia (AML) and chromosome 3q alterations (EVI1/PRDM3/MECOM overexpression) constitutes a poorly understood paraneoplasia. A 44‐year‐old patient presented with clinical and morphological features of this syndrome but, surprisingly, disclosed the rare translocation t(1;2)(p36;p21), with ...
Julian List, Etienne Sollier, Fiona Brown‐Burke, Katherine Kelly, Dietmar Pfeifer, Valeria Shlyakhto, Kristina Maas‐Bauer, Milena Pantic, Christoph Plass, Michael Lübbert   +9 more
wiley   +1 more source

The value of quantitative fluorescence polymerase chain reaction for the products of conception in the era of copy number variation sequencing. [PDF]

Front Genet
Yang S, Zhang H, Wang Y, Zhang Q, Wu Y, Fu X, Li R.   +6 more
europepmc   +1 more source

Comorbidities and mutations including single‐ and multihit TET2 mutations in relation to outcome in chronic myelomonocytic leukaemia—A population‐based study

British Journal of Haematology, EarlyView.
In a population‐based cohort of 149 chronic myelomonocytic leukaemia (CMML) patients, multihit TET2 mutation was associated with older age, lower LDH and less leucocytosis. We found no association with autoimmune disease or thrombosis. Patients with multihit TET2 mutation had a significantly longer overall survival than the patients without or with one
Matilda Kjellander Kynning, Ebba Westerberg, Linda Forsell, Maria Creignou, Daniel Moreno Berggren, Bianca Tesi, Elsa Bernard, Elli Papaemmanuil, Yasuhito Nannya, Lucia Cavelier Franco, Davide Valentini, Eva Hellström Lindberg, Seishi Ogawa, Elisabeth Ejerblad, Johanna Ungerstedt   +14 more
wiley   +1 more source

Increased Sensitivity to Ionizing Radiation in a Relevant Subset of Patients with Cancer and Systemic Lupus Erythematosus. [PDF]

Cells
Schenker H, Kuhlmann L, Kaudewitz D, Schuster B, Semrau S, Schmitter C, Voigt R, Merten R, Geinitz H, Fietkau R, Böltz S, Schett G, Distel LV.   +12 more
europepmc   +1 more source

Hypomethylating agents in vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS): A systematic review

British Journal of Haematology, EarlyView.
Summary VEXAS syndrome (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) is an X‐linked, systemic, haemato‐inflammatory syndrome caused by somatic mutations in the UBA1 gene. No standardized treatment guidelines exist, but evidence is emerging that treatment with hypomethylating agents (HMAs) can induce improvement of the inflammatory symptoms,
Fieke W. Hoff, Roochi Trikha, Emma M. Groarke, Bhavisha A. Patel   +3 more
wiley   +1 more source

The Need for a Concert of Cytogenomic Methods in Chromosomic Research and Diagnostics. [PDF]

Genes (Basel)
Wang Y, Liehr T.
europepmc   +1 more source

Detection of Down syndrome by in situ hybridization with chromosome 21 specific DNA probes [PDF]

, 1990
Cremer, Thomas, Jauch, Anna, Lichter, Peter, Patterson, David, Ward, D. C.   +4 more
core  

Pilot evaluation of optical genome mapping in chronic lymphocytic leukemia: complementing FISH analysis. [PDF]

BMC Cancer
Erdem S, Bayrak Tokaç AG, Aday A, Karaca D, Mutlu MB, Çefle K, Yenerel MN, Öztürk Ş, Kalayoğlu Beşışık S.   +8 more
europepmc   +1 more source

A retrospective analysis of 38,652 amniotic fluid karyotype. [PDF]

Front Genet
Ren J, Guan X, Lv W, Yan Y, Si Y, Yang S, Yin C.   +6 more
europepmc   +1 more source