Results 311 to 320 of about 142,560 (388)

Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis. [PDF]

Mol Cytogenet
Salmaninejad A, Yaghoubi Z, Haghzad T, Latifi M, Bayat R, Esnaashari S, Dalili S.   +6 more
europepmc   +1 more source

Epidemiology and characteristics of validated mixed phenotype acute leukaemia—A comprehensive nationwide Danish cohort study

British Journal of Haematology, EarlyView.
Lisa‐Maj Christensen, Daniel Tuyet Kristensen, Karen Dybkær, Kirsten Grønbæk, Tarec Christoffer El‐Galaly, Marianne Schmidt Ettrup, Jonas Faartoft Jensen, Hans Beier Ommen, Anne Louise Tølbøll Sørensen, Dennis Lund Hansen, Rasmus Froberg Brøndum, Marianne Tang Severinsen   +11 more
wiley   +1 more source

Clonal Progression and Leukemic Transformation of a TP53 Mutated Post‐Polycythaemia Vera Myelofibrosis

European Journal of Haematology, EarlyView.
ABSTRACT Previous studies investigating the role of TP53 mutations in chronic phase MPN have yielded inconsistent results. As such, the clinical relevance of these mutations remains to be elucidated. We report a case of a 67‐year‐old woman with a leukemic transformation of a post‐polycythaemia vera myelofibrosis (post‐PV MF) that culminated in the rare
Isidor Minović, Bart Koopman, Joris J. W. Ploegmakers, Elise M. J. van der Logt, Arjen H. G. Cleven, Anouk van der Veen, Arjan Buijs, André B. Mulder, Emanuele Ammatuna   +8 more
wiley   +1 more source

Detecting chromosomal rearrangements in boars using Hi-C. [PDF]

Anim Genet
Burden F, Rathje C, Ellis P, Holl J, Lewis CRG, Farré M.   +5 more
europepmc   +1 more source

Syndromic and etiological classification predicts seizure freedom in childhood and youth onset epilepsy: A population‐based study from the Norwegian Mother, Father, and Child Cohort Study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to determine the proportion of individuals with childhood and youth onset epilepsy who attain seizure freedom across seizure types, epilepsy types, etiologies, and syndromes using the latest International League Against Epilepsy (ILAE) classifications.
Truls Vikin, Richard F. Chin, Morten I. Lossius, Dag Hofoss, Ragnhild E. Brandlistuen, Kari M. Aaberg   +5 more
wiley   +1 more source

Paediatric Acute Myeloid Leukaemia-Myelodysplasia Related With i(17)(q10) Morphologically Mimicking Acute Promyelocytic Leukaemia. [PDF]

EJHaem
De John K, Koen JE, De Quintal H, Lohlun R.   +3 more
europepmc   +1 more source

Evaluating Chromosomal Mosaicism in Prenatal Diagnosis: The Complementary Roles of Chromosomal Microarray Analysis and Karyotyping. [PDF]

J Clin Lab Anal
Xu C, Xiong Y, Wang D, Zhang S, Wu X, Li M.   +5 more
europepmc   +1 more source

A CRISPR‐Cas9‐based system for the dose‐dependent study of DNA double‐strand break sensing and repair

The FEBS Journal, EarlyView.
Using CRISPR‐Cas9, we engineered a genetic system allowing the dose‐dependent induction of a controllable number of DNA double‐strand breaks in Saccharomyces cerevisiae. The tool was used to study the kinetics of DNA break sensing and repair, including the spatial distribution of Tel1ATM kinase, which initiates the DNA damage response.
Morgane Auboiron, Jocelyn Coiffard, Sylvain Kumanski, Olivier Santt, Benjamin Pardo, María Moriel‐Carretero   +5 more
wiley   +1 more source

Molecular profile of atypical Leydig cell tumours

Histopathology, EarlyView.
Copy number variations by themselves are not sufficient to discriminate between benign and potential malignant Leydig cell tumours (LCTs). Genomic instability was only detected in malignant and atypical cases, and not in any benign tumours. Currently, the presence of metastasis remains the only malignant criterion for LCTs.
Muhammad F.K. Choudhry, Diogo Caires, Yaser Gamallat, Asli Yilmaz, Fadi Brimo, Bob Argiropoulos, Tarek A. Bismar   +6 more
wiley   +1 more source

Uncovering Rare Structural Chromosomal Rearrangements: Insights from Molecular Cytogenetics. [PDF]

Int J Mol Sci
Czakó M, Szabó A, Till Á, Zsigmond A, Hadzsiev K.   +4 more
europepmc   +1 more source