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… (More)
National Institutes of Health

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Highly Cited
2011
Highly Cited
2011
PTEN is among the most frequently inactivated tumour suppressor genes in sporadic cancer. PTEN has dual protein and lipid… (More)
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Review
2008
Review
2008
The PTEN hamartoma tumor syndromes (PHTS) are a collection of rare clinical syndromes characterized by germline mutations of the… (More)
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Review
2003
Review
2003
PTEN, on 10q23.3, encodes a major lipid phosphatase which signals down the phosphoinositol-3-kinase/Akt pathway and effects G1… (More)
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Highly Cited
2000
Highly Cited
2000
Cowden syndrome (CS, MIM 158350) is an autosomal dominant disorder with age related penetrance characterised by multiple… (More)
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Review
1999
Review
1999
The most recently discovered PTEN tumor suppressor gene has been found to be defective in a large number of human cancers. In… (More)
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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… (More)
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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… (More)
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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… (More)
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Highly Cited
1986
Highly Cited
1986
An analysis of the findings in 21 patients with the Cowden syndrome or the multiple hamartoma syndrome is presented. The Cowden… (More)
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Highly Cited
1978
Highly Cited
1978
The four male patients with multiple hamartoma syndrome (Cowden's disease) in this report, have most of the previously reported… (More)
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