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Deep intronic FGF14 repeat expansion associated with late-onset cerebella ataxia
1. A dominant deep-intron GAA repeat expansion in the FGF14 gene was found among French Canadian patients with late-onset cerebellar ...
Tag: genetics
![Reduced neuronal BRCA1 associated with decreased DNA repair in Alzheimer’s disease [PreClinical]](https://s25qthea.wpenginepowered.com/wp-content/uploads/2015/12/DNA_Furchen_edited-350x250.png)
Differences in cancer implications for clinical care among CHEK2 variants
1. Some CHEK2 alleles were shown to have a high-risk association of breast cancer compared to other alleles that were ...
Tea consumption is associated with decreased risk of mortality
1. This prospective cohort study found that consuming two or more cups of tea daily was associated with moderately reduced ...
![Maternal cell-free DNA sequencing superior to standard aneuploidy screening [CARE Study]](https://s25qthea.wpenginepowered.com/wp-content/uploads/2014/02/47-karyotype-350x250.jpg)
Germline mutations in CIDEB confer protection from liver disease
1. Rare mutations in CIDEB are associated with a decreased risk of developing liver cirrhosis. 2. Further, rare mutations in ...
ACKR1 variant increases risk of azathioprine-related hematopoietic toxicity
1. Patients with the ACKR1 variant (CC genotype) had an elevated risk of azathioprine discontinuation attributed to hematopoietic toxicity. 2. ...
#VisualAbstract: Whole-genome sequencing changes clinical management in significant number of critically ill infants
1. In a randomized controlled trial of about 350 infants with suspected genetic diseases in intensive care units, the use ...
Whole-genome sequencing changes clinical management in significant number of critically ill infants
1. In a randomized controlled trial of about 350 infants with suspected genetic diseases in intensive care units, the use ...
![Reinnervation of cardiac infarcts decreases subsequent arrhythmia incidence [PreClinical]](https://s25qthea.wpenginepowered.com/wp-content/uploads/2015/02/1280px-Heart_ant_wall_infarction-350x250.jpg)
Carriers of truncated variants in filamin C with left ventricular systolic dysfunction associated with increased frequency of cardiac adverse events
1. Higher frequencies of malignant ventricular arrhythmia and end-stage heart failure were found among individuals carrying truncating variants of the ...
Reflex syncope might be associated with familial relationship degree
1. 30% of the population suffers from reflex syncope, a major cause of transient loss of consciousness. Understanding genetic basis ...
Major birth defects and chromosomal abnormalities significantly associated with increased cancer risk
1. The association between major birth defects and cancer risk was present in children, adolescents, and adults, although the risk ...
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