|
LEOPARD Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
|
18372317 |
2008 |
|
PTEN Hamartoma Tumor Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation.
|
16894538 |
2006 |
|
ovarian neoplasm
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
|
21194675 |
2011 |
|
PTEN Hamartoma Tumor Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
|
23335809 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
The functions and regulation of the PTEN tumour suppressor.
|
22473468 |
2012 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
PTEN: one gene, many syndromes.
|
12938083 |
2003 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Assessment of the quality and frequency of mutations occurrence in PTEN gene in endometrial carcinomas and hyperplasias.
|
11849740 |
2002 |
|
PTEN Hamartoma Tumor Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
|
10400993 |
1999 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation.
|
16894538 |
2006 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations of PTEN/MMAC1 in primary prostate cancers from Chinese patients.
|
11234884 |
2001 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
|
10400993 |
1999 |
|
PTEN Hamartoma Tumor Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
|
17392703 |
2007 |
|
Hamartoma Syndrome, Multiple
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel mutation of the PTEN gene in an Italian Cowden's disease kindred.
|
9735393 |
1998 |
|
Hamartoma Syndrome, Multiple
|
|
0.700 |
GeneticVariation
|
UNIPROT |
PTEN germ-line mutations in juvenile polyposis coli.
|
9425889 |
1998 |
|
Hamartoma Syndrome, Multiple
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.
|
10234502 |
1999 |
|
Hamartoma Syndrome, Multiple
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene.
|
9915974 |
1999 |
|
Hamartoma Syndrome, Multiple
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
|
9467011 |
1998 |
|
Hamartoma Syndrome, Multiple
|
|
0.700 |
GeneticVariation
|
UNIPROT |
PTEN coordinates G(1) arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model.
|
11230179 |
2001 |
|
Hamartoma Syndrome, Multiple
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.
|
10866302 |
2000 |
|
Hamartoma Syndrome, Multiple
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Regulation of PTEN phosphorylation and stability by a tumor suppressor candidate protein.
|
15355975 |
2004 |
|
Hamartoma Syndrome, Multiple
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The deubiquitinylation and localization of PTEN are regulated by a HAUSP-PML network.
|
18716620 |
2008 |
|
Hamartoma Syndrome, Multiple
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Severe Lhermitte-Duclos disease with unique germline mutation of PTEN.
|
10051160 |
1999 |
|
Hamartoma Syndrome, Multiple
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.
|
9345101 |
1997 |
|
Hamartoma Syndrome, Multiple
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The lipid phosphatase activity of PTEN is critical for its tumor supressor function.
|
9811831 |
1998 |