Bannayan-Riley-Ruvalcaba Syndrome

The use of individual participant data instead of aggregate data in meta-analyses has many potential advantages, both… Expand

Bannayan-Riley-Ruvalcaba syndrome is a rare autosomal dominant genodermatosis with the classical triad of macrocephaly, genital… Expand

Germline intragenic mutations in PTEN are associated with 80% of patients with Cowden syndrome (CS) and 60% of patients with… Expand

PTEN, on 10q23.3, encodes a major lipid phosphatase which signals down the phosphoinositol‐3‐kinase/Akt pathway and effects G1… Expand

Germline mutations in the tumour suppressor gene PTEN have been implicated in two hamartoma syndromes that exhibit some clinical… Expand

The tumour suppressor gene PTEN , which maps to 10q23.3 and encodes a 403 amino acid dual specificity phosphatase (protein… Expand

The PTEN gene encodes a dual-specificity phosphatase mutated in a variety of human cancers. PTEN germline mutations are found in… Expand

BACKGROUND The term Bannayan-Riley-Ruvalcaba syndrome has been proposed to reflect the clinical overlap of 3 conditions… Expand

Here we report on 12 affected members of a family with Bannayan-Riley-Ruvalcaba syndrome. We present clinical evidence of overlap… Expand

ALTHOUGH neurophysiological, behavioural and biochemical evidence suggests that benzodiazepines (BZ) may affect several neuronal… Expand