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Proteus Syndrome
Known as:
Elephant Man Disease
, disease elephant mans
, Proteus Syndrome [Disease/Finding]
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Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs…
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National Institutes of Health
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Related topics
Related topics
27 relations
Acanthosis
Blepharoptosis
Capillary malformation (disorder)
Congenital anomaly of brain
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Narrower (1)
Macrocephaly mesodermal hamartoma spectrum
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.
N. Nathan
,
K. Keppler-Noreuil
,
L. Biesecker
,
J. Moss
,
T. Darling
Dermatologia clinica
2017
Corpus ID: 207097886
Review
2014
Review
2014
Proteus syndrome review: molecular, clinical, and pathologic features
M. Cohen
Clinical Genetics
2014
Corpus ID: 204999819
Proteus syndrome is caused by an activating AKT1 mutation (c.49G>A, p.Glu17Lys). Many variable features are possible in this…
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Highly Cited
2009
Highly Cited
2009
Surgery for acute type A dissection using total arch replacement combined with stented elephant trunk implantation: experience with 107 patients.
Li-Zhong Sun
,
R. Qi
,
+7 authors
Jinguo Lu
Journal of Thoracic and Cardiovascular Surgery
2009
Corpus ID: 28362299
Highly Cited
2006
Highly Cited
2006
Proteus Syndrome
罗素菊
,
冯义国
,
彭振辉
2006
Corpus ID: 221185641
Proteus…
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Review
2004
Review
2004
Cutaneous manifestations of proteus syndrome: correlations with general clinical severity.
Diem B Nguyen
,
Joyce T. Turner
,
C. Olsen
,
L. Biesecker
,
T. Darling
Archives of Dermatology
2004
Corpus ID: 4985828
BACKGROUND Proteus syndrome is a rare congenital disorder with progressive asymetric overgrowth of multiple tissues. OBJECTIVES…
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Review
2003
Review
2003
PTEN: One Gene, Many Syndromes
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…
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Highly Cited
2002
Highly Cited
2002
Germline mutation of the tumour suppressor PTEN in Proteus syndrome
J. Smith
,
E. Kirk
,
+6 authors
D. Marsh
Journal of Medical Genetics
2002
Corpus ID: 27033427
Proteus syndrome (PS, OMIM 176920) is a hamartomatous disorder characterised by overgrowth of multiple tissues, connective tissue…
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Review
1995
Review
1995
Neoplasms in Proteus syndrome.
P. L. Gordon
,
R. Wilroy
,
O. Lasater
,
M. Michael
American journal of medical genetics
1995
Corpus ID: 43427047
We report on 2 children with Proteus syndrome who developed neoplasms. Patient 1 had a probable mesothelioma, although papillary…
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Highly Cited
1992
Highly Cited
1992
Mental images can be ambiguous: Reconstruals and reference-frame reversals
M. Peterson
,
J. Kihlstrom
,
P. M. Rose
,
M. Glisky
Memory & Cognition
1992
Corpus ID: 3247706
Philosophers and psychologists have debated whether or not mental images of ambiguous-figures are reversible as pictures of such…
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Highly Cited
1986
Highly Cited
1986
The Proteus syndrome: the Elephant Man diagnosed.
J A Tibbles
,
M M Cohen
British medical journal
1986
Corpus ID: 28537468
Sir Frederick Treves first showed Joseph Merrick, the famous Elephant Man, to the Pathological Society of London in 1884. A…
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