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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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2012
2012
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
The CUL4B gene encodes a member of Cullin–RING ubiquitin ligase complex. Point mutations in CUL4B were identified recently in… 
Review
2009
Review
2009
This contribution provides a review of our current understanding of radio source populations and their host galaxies, as derived… 
2008
2008
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal hamartomatous polyposis syndrome. Facets of this syndrome were… 
1998
1998
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare hamartomatous polyposis condition with features of macrocephaly, intestinal… 
Review
1997
Review
1997
Peripheral-type benzodiazepine (BZ) receptors (PBRs) have been identified in various peripheral tissues as well as in glial cells… 
Review
1993
Review
1993
We report on a 6-year-old girl with Costello syndrome. Main manifestations included poor postnatal growth, relative macrocephaly… 
1992
1992
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
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
Anthropometric methods were used to examine 18 males 18 to 69 years old with the Fragile-X syndrome. Thirteen of 15 subjects had…