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Biallelic deletion 13q14.3 in patients with chronic lymphocytic leukemia: Cytogenetic, FISH and clinical studies
(Wiley Blackwell Publishing, Inc, 2008-08)
Background and objective: Monoallelic deletion of 13q14.3 (13q14x1) is the most common abnormality in chronic lymphocytic leukemia (CLL). As a sole alteration, it predicts a favorable outcome. Biallelic 13q14.3 (13q14x2) ...
De Novo Double Reciprocal Translocations In Addition To Partial Monosomy At Another Chromosome: A Very Rare Case
(ELSEVIER SCIENCE BVAMSTERDAM, 2015)
Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson’s disease
(Oxford University Press, 2017)
The recurrent 22q11.2 deletion is a genetic risk factor for early-onset Parkinson's disease. Adults with the associated 22q11.2 deletion syndrome (22q11.2DS) may exhibit phenotypes that could help identify those at highest ...
Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson’s disease
(Oxford University Press, 2017)
The recurrent 22q11.2 deletion is a genetic risk factor for early-onset Parkinson's disease. Adults with the associated 22q11.2 deletion syndrome (22q11.2DS) may exhibit phenotypes that could help identify those at highest ...
Analysis of RecA-independent recombination events between short direct repeats related to a genomic island and to a plasmid in Escherichia coli K12
(PeerJ Inc, 2017)
RecA-independent recombination events between short direct repeats, leading to
deletion of the intervening sequences, were found to occur in two genetic models
in the Escherichia coli K12 background. The first model was ...
A series of unfortunate events: familial case of DMD, two different mutational events and skewed X chromosome inactivation in a pregnant woman
(Elsevier Inc, 2019)
Duchenne muscular dystrophy (DMD) is a neuromuscular X-linked recessive disease caused by mutations in DMD gene. Here, we present a family with a DMD symptomatic pregnant woman and two affected boys. One of them had a ...
Distal 22q11.2 Microduplication Combined With Typical 22q11.2 Proximal Deletion: A Case Report
(Wiley-Liss Inc., 2015)
Polycystin-1 is required for insulin-like growth factor 1-induced cardiomyocyte hypertrophy
(Public Library Science, 2021)
Cardiac hypertrophy is the result of responses to various physiological or pathological stimuli. Recently, we showed that polycystin-1 participates in cardiomyocyte hypertrophy elicited by pressure overload and mechanical ...