Results 121 to 130 of about 73,620 (322)

Review of Transcriptomic Biomarkers That Predict In Vitro Genotoxicity in Human Cell Lines

open access: yesEnvironmental and Molecular Mutagenesis, EarlyView.
ABSTRACT The current genotoxicity testing paradigm provides little mechanistic information, has poor specificity in predicting carcinogenicity in humans, and is not suited to assessing a large number of chemicals. Genomic technologies enable the characterization of genome‐wide transcriptional changes in response to chemical treatments that can inform ...
Heng‐Hong Li   +7 more
wiley   +1 more source

Cytogenetics and Cancer

open access: yesJournal of Urology, 1984
When present, chromosome abnormalities can contribute useful information for tumor diagnosis and prognosis. However, the existence of diploid tumor cells indicates that such abnormalities are not necessary in tumors. Their time of appearance, sometimes preceding or predisposing to tumor and sometimes occurring late in disease, also suggests that ...
openaire   +3 more sources

Comparative assessment of artificial intelligence chatbots' performance in responding to healthcare professionals' and caregivers' questions about Dravet syndrome

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Artificial intelligence chatbots have been a game changer in healthcare, providing immediate, round‐the‐clock assistance. However, their accuracy across specific medical domains remains under‐evaluated. Dravet syndrome remains one of the most challenging epileptic encephalopathies, with new data continuously emerging in the ...
Joana Jesus‐Ribeiro   +4 more
wiley   +1 more source

P343: GENOMIC CHARACTERISATION OF B-OTHER ALL IN UKALL2003 PATIENTS BY NEXT GENERATION SEQUENCING

open access: yesHemaSphere, 2022
C. Schwab   +12 more
doaj   +1 more source

Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?

open access: yesMolecular Cytogenetics
Background Mesomelia-Synostoses Syndrome (MSS)(OMIM 600,383) is a rare autosomal dominant disorder characterized by mesomelic limb shortening, acral synostoses and multiple congenital malformations which is described as a contiguous deletion syndrome ...
Ingrid Bendas Feres Lima   +6 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

open access: yesEpilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola   +3 more
wiley   +1 more source

Rare germline ATM variants predispose to secondary cancer in chronic lymphocytic leukaemia patients

open access: yes
Cancer Communications, EarlyView.
Anna Petrackova   +5 more
wiley   +1 more source

Implementation of the Fluorescent in Situ Hybridization technique in the Faculty of Medicine, UdelaR

open access: yesAnales de la Facultad de Medicina, 2017
The Cytogenetic Laboratory of the Faculty of Medicine processes, on average, 300 annual samples of public and private healthcare centers by conventional cytogenetics.
Andrea Cairus   +5 more
doaj  

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