Fragile X syndrome is the most frequent form of inherited mental retardation and is associated
with a fragile site at Xq27. 3. We identified human YAC clones that span fragile X site-…

Celiac disease (CD) is a multifactorial disorder with an estimated prevalence in Europe and
USA of 1:100 and a female:male ratio of approximately 2:1. The disorder has a multifactorial …

Triplet repeats are the sites of mutation in three human heritable disorders, spinal and
bulbar muscular atrophy (SBMA), fragile X syndrome, and myotonic dystrophy (DM). These …

Fragile X syndrome results from mutations in a (CGG). repeat found in the coding sequence
of the FM+ 1 gene. Analysis of length variation in this region in normal individuals shows a …

ContextHereditary diffuse gastric cancer is caused by germline mutations in the epithelial
cadherin (CDH1) gene and is characterized by an increased risk for diffuse gastric cancer and …

Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction
abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of …

Synthetic oligonucleotides containing GC-rich triplet sequences were used in a scanning
strategy to identify unstable genetic sequences at the myotonic dystrophy (DM) locus. A highly …

We investigated several phenotypic and functional parameters of T cell-mediated immunity
in a large series of common variable immunodeficiency (CVID) patients. We demonstrated …

The myotonic dystrophy mutation has recently been identified; however, the molecular
mechanism of the disease is still unknown. The sequence of the myotonin-protein kinase gene …

The RNA-binding proteins TDP-43 and FUS form abnormal cytoplasmic aggregates in affected
tissues of patients with amyotrophic lateral sclerosis and frontotemporal lobar dementia. …