Results 281 to 290 of about 92,178 (328)

GREB1‐rearranged uterine tumour shares a common DNA methylation signature with ESR1‐rearranged UTROSCT

Histopathology, EarlyView.
GREB1‐rearranged uterine tumours share DNA methylation profiles with UTROSCTs, supporting a close relationship. Despite differences in morphology and genomic complexity, their epigenetic similarity supports the inclusion of these tumours within the UTROSCT spectrum. Background and objectives GREB1‐rearranged uterine tumours encompass a group of uterine
Cheng‐Han Lee, Yow‐Shan Lee, Jennifer A Bennett, David L Kolin, Jen‐Chieh Lee, Hsuan‐Ying Huang, Martin Köbel, Mark Sementsov, Brendan C Dickson, Christian Koelsche, Friedrich Kommoss, Andreas von Deimling, Felix K F Kommoss   +12 more
wiley   +1 more source

Immune‐related toxicity profile after haematopoietic stem cell transplantation in patients with B‐ALL given combination immunotherapy with rituximab, inotuzumab and blinatumomab

British Journal of Haematology, EarlyView.
Olayinka Okeleji, David McCall, Branko Cuglievan, Amber Gibson, Demetrios Petropoulos, Priti Tewari, Jeremy Connors, Irtiza N. Sheikh   +7 more
wiley   +1 more source

Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley   +1 more source

Centromeric, pericentromeric and heterochromatin abnormalities in chromosomal rearrangements of human leukemia

, 2000
Berger Roland
openalex   +1 more source

Significance of Myelodysplasia‐Related Mutations and the Genetic Landscape of Acute Leukemias of Ambiguous Lineage

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT The recent fifth edition WHO classification and ICC classification systems have moved further toward genetically defined classifications of acute leukemias. Both now recognize myelodysplasia‐related (MR) mutations as defining of MDS‐related AML (AML‐MR).
Timothy J. Kirtek, Olga K. Weinberg
wiley   +1 more source

Common Hematologic Emergencies—Acute Promyelocytic Leukemia and Microangiopathic Hemolytic Anemias—A Pivotal Role of Clinical Laboratory

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Hematologic emergencies are urgent health conditions which result in significant mortality and morbidity unless timely therapeutic measures are taken. Therapeutic success depends on their timely and accurate recognition by hematology laboratory services.
Ganna Shestakova, Nicolas Ulrich Edgar, Anton V. Rets   +2 more
wiley   +1 more source

Epidemiology and Genetics of Rheumatic Diseases Suggest a Constant Rate of DNA Damage as Underlying Cause

Immunology, EarlyView.
A constant rate of DNA damage that is not perfectly repaired will cause a constant rate of DNA mutations. The chance of mutation will increase if DNA is prone to damage, such as occurs in somatic hypermutation (SHM) hotspots and GC‐rich DNA. Thus, if one mutation‐prone DNA site drives disease, the age of onset of disease and degree of penetrance should
Piet C. de Groen
wiley   +1 more source

Computational Methods for Detecting Large-Scale Chromosome Rearrangements in SNP Data

, 2010
Jussi Kollin
openalex   +1 more source

A single nucleotide polymorphism genotyping panel for efficient genetic stock identification of the Teno river Atlantic salmon (Salmo salar) population complex

Journal of Fish Biology, EarlyView.
Abstract A new single nucleotide polymorphism (SNP) panel for genetic stock identification in the Teno river Atlantic salmon, Salmo salar L., fishery was developed, with a view to improving on an existing microsatellite panel. Twenty‐two genetically differentiated reporting units were proposed based on population genetic analyses of 1212 individuals ...
Helena Johansson, Jaakko Erkinaro, Morten Falkegård, Anders Foldvik, Panu Orell, Craig R. Primmer, Victoria L. Pritchard   +6 more
wiley   +1 more source

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation. [PDF]

Front Genet
León A, Aguirre AS, Lindstrand A, Ek M, Romero VI.   +4 more
europepmc   +1 more source