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Hamartoma Syndrome, Multiple

Known as: COWDEN SYNDROME 1, Cowdens Syndrome, CD 
A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2011
Review
2011
PTEN is among the most frequently inactivated tumour suppressor genes in sporadic cancer. PTEN has dual protein and lipid… Expand
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Highly Cited
2005
Highly Cited
2005
The genetic aetiology of autism remains elusive. Occasionally, individuals with Cowden syndrome (a cancer syndrome) and other… 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
2000
Highly Cited
2000
  • C. Eng
  • Journal of medical genetics
  • 2000
  • Corpus ID: 27076421
Cowden syndrome (CS, MIM 158350) is an autosomal dominant disorder with age related penetrance characterised by multiple… Expand
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Review
1999
Review
1999
  • L. Cantley, B. Neel
  • Proceedings of the National Academy of Sciences…
  • 1999
  • Corpus ID: 43439834
The most recently discovered PTEN tumor suppressor gene has been found to be defective in a large number of human cancers. In… 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
1999
Highly Cited
1999
Germline mutations in PTEN, encoding a dual-specificity phosphatase on 10q23.3, cause Cowden syndrome (CS), which is… Expand
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
1997
Highly Cited
1997
Cowden disease (CD) is an autosomal dominant cancer predisposition syndrome associated with an elevated risk for tumours of the… Expand
Highly Cited
1972
Highly Cited
1972
Seven members in three generations of a family have multiple hamartoma syndrome (Cowden disease). Skin changes, characterized by… Expand