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Bannayan-Riley-Ruvalcaba Syndrome
Known as:
Bannayan-Ruvalcaba-Riley Syndrome
, Ruvalcaba Myhre Smith Syndrome
, Riley Smith Syndrome
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A genetic syndrome caused by mutations in the PTEN gene. It is characterized by macrocephaly and the presence of hamartomas.
National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Bannayan–Riley–Ruvalcaba Syndrome with Progressive Spinal Epidural Lipomatosis
S. Toelle
,
A. Poretti
,
I. Scheer
,
T. Huisman
,
E. Boltshauser
Neuropediatrics
2012
Corpus ID: 13120135
Abstract We present a case study of an 11-year-old boy with Bannayan–Riley–Ruvalcaba syndrome (BRRS) with macrocephaly…
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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
B. Isidor
,
Olivier Pichon
,
S. Baron
,
A. David
,
C. Le Caignec
American Journal of Medical Genetics. Part A
2010
Corpus ID: 11368312
The CUL4B gene encodes a member of Cullin–RING ubiquitin ligase complex. Point mutations in CUL4B were identified recently in…
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Review
2009
Review
2009
Radio source populations: Results from SDSS
P. Best
2009
Corpus ID: 55856058
This contribution provides a review of our current understanding of radio source populations and their host galaxies, as derived…
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2008
2008
Testicular Hamartomas in a Patient With Bannayan‐Riley‐Ruvalcaba Syndrome
R. N. Walker
,
T. Murphy
,
M. Wilkerson
Journal of ultrasound in medicine
2008
Corpus ID: 8769006
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal hamartomatous polyposis syndrome. Facets of this syndrome were…
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1998
1998
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome.
J. Carethers
,
F. Furnari
,
+10 authors
C. Boland
Cancer Research
1998
Corpus ID: 15027347
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare hamartomatous polyposis condition with features of macrocephaly, intestinal…
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Review
1997
Review
1997
Role of peripheral-type benzodiazepine receptors in steroidogenesis.
M. Gavish
,
R. Weizman
Clinical neuropharmacology
1997
Corpus ID: 399091
Peripheral-type benzodiazepine (BZ) receptors (PBRs) have been identified in various peripheral tissues as well as in glial cells…
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Review
1993
Review
1993
Further delineation of Costello syndrome.
A. Teebi
,
Issa S. Shaabani
American journal of medical genetics
1993
Corpus ID: 2861438
We report on a 6-year-old girl with Costello syndrome. Main manifestations included poor postnatal growth, relative macrocephaly…
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1992
1992
Memory functions, alertness and mood of long-term benzodiazepine users: a preliminary investigation of the effects of a normal daily dose
H. Curran
Journal of Psychopharmacology
1992
Corpus ID: 39625002
The effects of a normal daytime dose of a benzodiazepine (BZ) on memory functions and mood were assessed in 20 out-patients who…
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Highly Cited
1985
Highly Cited
1985
Bleeding lipomas of the upper gastrointestinal tract. A diagnostic challenge.
F. Agha
,
T. Dent
,
R. Fiddian-Green
,
A. H. Braunstein
,
T. Nostrant
The American surgeon
1985
Corpus ID: 20308538
Submucosal lipoma of the upper gastrointestinal tract is a rare benign tumor. However, it may present as both a diagnostic…
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Highly Cited
1984
Highly Cited
1984
An anthropometric study of males with the fragile-X syndrome.
D. L. Meryash
,
Christine E. Cronk
,
Benjamin Sachs
,
P. S. Gerald
,
J. M. Opitz
American journal of medical genetics
1984
Corpus ID: 40668653
Anthropometric methods were used to examine 18 males 18 to 69 years old with the Fragile-X syndrome. Thirteen of 15 subjects had…
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