The human X chromosome has a unique biology that was shaped by its evolution as the sex
chromosome shared by males and females. We have determined 99.3% of the euchromatic …

Five folate-sensitive fragile sites have been identi-fied at the molecular level to date1–8.
Each is characterized by an expanded and methylated trinucleotide repeat of CGG (CCG) …

Background Increasing infiltration of CD8+ T cells within tumor tissue predicts a better
prognosis and is essential for response to checkpoint blocking therapy. Furthermore, current …

FRAXE mental retardation results from expansion and methylation of a CCG trinucleotide
repeat located in exon 1 of the X-linked FMR2 gene, which results in transcriptional …

Fragile X–associated tremor/ataxia syndrome (FXTAS) is a debilitating late-onset
neurodegenerative disease in premutation carriers of the expanded CGG repeat in FMR1 …

Individuals with autism spectrum disorders (ASD) who have an identifiable single-gene
neurodevelopmental disorder (NDD), such as fragile X syndrome (FXS, FMR1), Smith …

Chromosomal microarray analysis (CMA) by array‐based comparative genomic
hybridization (CGH) is a new clinical test for the detection of well‐characterized genomic …

Abstract Fragile X Mental Retardation protein (FMRP), widely known for its role in hereditary
intellectual disability, is an RNA‐binding protein (RBP) that controls translation of select …

Deficiency of IDs activity results in Hunter Syndrome (mucopolysaccharidosis type II), a fatal
X-linked recessive disorder. We report characterization of 28 cosmids around the IDS locus …

Amplification and methylation of a CGG trinucleotide repeat sequence in the 5'untranslated
region of the FMRl gene is typically found in patients with fragile X syndrome (1). Rare …