Results 121 to 130 of about 15,433 (199)

Mosaic chromosomal alterations in hematopoietic cells and clinical outcomes in patients with multiple myeloma. [PDF]

Leukemia
Husby S, Tulstrup M, Harsløf M, Nielsen C, Haastrup E, Ebbesen LH, Klarskov Andersen M, Pertesi M, Brieghel C, Niemann CU, Nilsson B, Szabo AG, Andersen NF, Abildgaard N, Vangsted A, Grønbæk K.   +15 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

Strategies to Detect Chromosomal Anomalies Not Identified by NIPT. [PDF]

Prenat Diagn
Scott F, Han MP, Gomes de Melo Tavares Ferreira AE, Elhindi J, McLennan AC.   +4 more
europepmc   +1 more source

Retrospective clinical and molecular characterisation of patients with penile intraepithelial neoplasia

BJU International, EarlyView.
Objectives To provide the first comprehensive molecular characterisation of penile intraepithelial neoplasia (PeIN) and to define the molecular alterations and clinical parameters associated with recurrence in order to enhance our ability to manage this disease.
Sara Kaczor Elbæk, Philippe Lamy, Simen Laugesen, Christina Stilling, Iver Nordentoft, Lars Dyrskjøt, Jakob Kristian Jakobsen   +6 more
wiley   +1 more source

Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testing. [PDF]

Front Genet
Staniczek J, Manasar-Dyrbuś M, Sodowska P, Sodowski K, Włoch A, Czuba B, Cnota W, Paul-Samojedny M, Kania A, Sodowska H, Rybak-Krzyszkowska M, Kondracka A, Stojko R, Drosdzol-Cop A.   +13 more
europepmc   +1 more source

The fourspine stickleback (Apeltes quadracus) has an XY sex chromosome system with polymorphic inversions on both X and Y chromosomes. [PDF]

PLoS Genet
Liu Z, Herbert AL, Chan YF, Kučka M, Kingsley DM, Peichel CL.   +5 more
europepmc   +1 more source

DysRegNet: Patient‐specific and confounder‐aware dysregulated network inference towards precision therapeutics

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Gene regulation is frequently altered in diseases in unique and patient‐specific ways. Hence, personalised strategies have been proposed to infer patient‐specific gene‐regulatory networks. However, existing methods do not scale well because they often require recomputing the entire network per sample.
Johannes Kersting, Olga Lazareva, Zakaria Louadi, Jan Baumbach, David B. Blumenthal, Markus List   +5 more
wiley   +1 more source

Unraveling The Impact of Viral Infections on Sperm Genetic Stability: A Scoping Review. [PDF]

Int J Fertil Steril
Hajiesmaeili Y, Mollaahmadi F, Borjian Boroujeni P, Mohseni Meybodi A, Haratian K.   +4 more
europepmc   +1 more source

The DCIDE framework: systematic investigation of evolutionary hypotheses, exemplified with autism

Biological Reviews, EarlyView.
ABSTRACT Evolutionary explanations of mental disorders are a longstanding aim of evolutionary psychiatry, but have suffered from complexities including within‐disorder heterogeneity and environmental effects of contemporary societies obscuring possible ancestral functions.
Adam D. Hunt, Adrian V. Jaeggi
wiley   +1 more source