Skip to search formSkip to main contentSkip to account menu

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

Related topics

Related topics

32 relations
Acanthosis NigricansAccessory nippleAmblyopiaAngiokeratoma

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Bannayan–Riley–Ruvalcaba Syndrome with Progressive Spinal Epidural Lipomatosis
Abstract We present a case study of an 11-year-old boy with Bannayan–Riley–Ruvalcaba syndrome (BRRS) with macrocephaly… 
Highly Cited
2010
Highly Cited
2010
Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia
The CUL4B gene encodes a member of Cullin–RING ubiquitin ligase complex. Point mutations in CUL4B were identified recently in… 
Review
2009
Review
2009
Radio source populations: Results from SDSS
This contribution provides a review of our current understanding of radio source populations and their host galaxies, as derived… 
2008
2008
Testicular Hamartomas in a Patient With Bannayan‐Riley‐Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal hamartomatous polyposis syndrome. Facets of this syndrome were… 
1998
1998
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome.
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare hamartomatous polyposis condition with features of macrocephaly, intestinal… 
Review
1997
Review
1997
Role of peripheral-type benzodiazepine receptors in steroidogenesis.
Peripheral-type benzodiazepine (BZ) receptors (PBRs) have been identified in various peripheral tissues as well as in glial cells… 
Review
1993
Review
1993
Further delineation of Costello syndrome.
We report on a 6-year-old girl with Costello syndrome. Main manifestations included poor postnatal growth, relative macrocephaly… 
1992
1992
Memory functions, alertness and mood of long-term benzodiazepine users: a preliminary investigation of the effects of a normal daily dose
The effects of a normal daytime dose of a benzodiazepine (BZ) on memory functions and mood were assessed in 20 out-patients who… 
Highly Cited
1985
Highly Cited
1985
Bleeding lipomas of the upper gastrointestinal tract. A diagnostic challenge.
Submucosal lipoma of the upper gastrointestinal tract is a rare benign tumor. However, it may present as both a diagnostic… 
Highly Cited
1984
Highly Cited
1984
An anthropometric study of males with the fragile-X syndrome.
Anthropometric methods were used to examine 18 males 18 to 69 years old with the Fragile-X syndrome. Thirteen of 15 subjects had… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)