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Bannayan-Riley-Ruvalcaba Syndrome

Known as: Bannayan-Ruvalcaba-Riley Syndrome, Ruvalcaba Myhre Smith Syndrome, Riley Smith Syndrome 
A genetic syndrome caused by mutations in the PTEN gene. It is characterized by macrocephaly and the presence of hamartomas.
National Institutes of Health

Papers overview

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Highly Cited
2010
Highly Cited
2010
The use of individual participant data instead of aggregate data in meta-analyses has many potential advantages, both… Expand
Highly Cited
2005
Highly Cited
2005
Bannayan-Riley-Ruvalcaba syndrome is a rare autosomal dominant genodermatosis with the classical triad of macrocephaly, genital… Expand
Highly Cited
2003
Highly Cited
2003
Germline intragenic mutations in PTEN are associated with 80% of patients with Cowden syndrome (CS) and 60% of patients with… Expand
Review
2003
Review
2003
  • C. Eng
  • Human mutation
  • 2003
  • Corpus ID: 13417857
PTEN, on 10q23.3, encodes a major lipid phosphatase which signals down the phosphoinositol‐3‐kinase/Akt pathway and effects G1… Expand
Highly Cited
1999
Highly Cited
1999
Germline mutations in the tumour suppressor gene PTEN have been implicated in two hamartoma syndromes that exhibit some clinical… Expand
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Highly Cited
1998
Highly Cited
1998
The tumour suppressor gene PTEN , which maps to 10q23.3 and encodes a 403 amino acid dual specificity phosphatase (protein… Expand
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Highly Cited
1998
Highly Cited
1998
The PTEN gene encodes a dual-specificity phosphatase mutated in a variety of human cancers. PTEN germline mutations are found in… Expand
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Highly Cited
1996
Highly Cited
1996
BACKGROUND The term Bannayan-Riley-Ruvalcaba syndrome has been proposed to reflect the clinical overlap of 3 conditions… Expand
Highly Cited
1992
Highly Cited
1992
Here we report on 12 affected members of a family with Bannayan-Riley-Ruvalcaba syndrome. We present clinical evidence of overlap… Expand
Highly Cited
1978
Highly Cited
1978
ALTHOUGH neurophysiological, behavioural and biochemical evidence suggests that benzodiazepines (BZ) may affect several neuronal… Expand