In resource-limited conditions such as the COVID-19 pandemic, on-site detection of
diseases using the Point-of-care testing (POCT) technique is becoming a key factor in …

Digital polymerase chain reaction (dPCR) is an emerging technique for the absolute
quantification of target nucleic acids. dPCR got attention as a precise quantification tool in …

The diagnosis and study of the fragile X–related disorders is complicated by the difficulty of
amplifying the long CGG/CCG-repeat tracts that are responsible for disease pathology, the …

Fragile X syndrome (FXS) is the most common monogenic cause of intellectual disability
and autism. Molecular diagnostic testing of FXS and related disorders (fragile X-associated …

Aim: Molecular diagnosis of fragile X syndrome demands assessment of fragile X mental
retardation 1 (FMR1) CGG repeat size and methylation status, while predicting disease …

Instability and expansion of the DMPK CTG repeat cause myotonic dystrophy type 1 (DM1),
the most common adult-onset neuromuscular disorder. Overlapping clinical features …

Methylated FMR1 full-mutation expansions cause fragile X syndrome. FMR1 premutation
carriers are susceptible to other late-onset conditions, and women with premutation are at …

Abstract Introduction: Fragile X syndrome (FXS) is the commonest inherited cause of
intellectual disability. Children with FXS usually present clinically with developmental …

Fragile X (FRAXA) syndrome and fragile XE (FRAXE) syndrome are caused by the
expansion of a trinucleotide repeat in the FMR1 and FMR2 genes, respectively. Currently …

To quantitatively detect GNAQ/11 mutations in uveal melanoma (UM) by droplet digital PCR
(ddPCR). Methods Formaldehyde-fixed paraffin-embedded (FFPE) tumor samples were …