|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay.
|
19321504 |
2009 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
|
17526800 |
2007 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
|
17942903 |
2007 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
|
17526800 |
2007 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of PTEN can also be found in patients with Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum).
|
17941496 |
2007 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
Polydactyly has previously been described in two patients with Lhermitte-Duclos disease and CS and is thus likely to be a rare sign of PTEN mutations.
|
17427195 |
2007 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease.
|
17427195 |
2007 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This case of Lhermitte-Duclos disease associated with paraspinal AVF and mutation of the PTEN gene suggests a relationship between Lhermitte-Duclos disease and Cowden disease.
|
16998279 |
2006 |
|
Lhermitte-Duclos disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Immunohistochemical analysis showed high levels of phospho-AKT and phospho-S6 in the large ganglionic cells forming the lesions, indicating activation of the PTEN/AKT/mTOR pathway and suggesting a central role for mTOR in the pathogenesis of LDD.
|
15835270 |
2005 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome.
|
16007494 |
2005 |
|
Lhermitte-Duclos disease
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
We obtained paraffin-embedded LDD lesions from 18 unselected, unrelated patients and performed mutational analysis of PTEN.
|
14566704 |
2003 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
It remains unclear whether all cases of LDD, even without features of CS, are caused by germline PTEN mutation and whether somatic PTEN mutation occurs in sporadic LDD.
|
14566704 |
2003 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LDD is often not associated with CD and germline PTEN mutations seem not to be present in isolated LDD.
|
12690565 |
2003 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases.
|
14574156 |
2003 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
PTEN is a tumor suppressor gene mutated in many human sporadic cancers and in hereditary cancer syndromes such as Cowden disease, Bannayan-Zonana syndrome and Lhermitte-Duclos disease.
|
12655146 |
2003 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
We obtained paraffin-embedded LDD lesions from 18 unselected, unrelated patients and performed mutational analysis of PTEN.
|
14566704 |
2003 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Dysregulation of cell growth control by PTEN is associated with the neurological disorder Lhermitte-Duclos disease.
|
12367630 |
2002 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
PTEN mutation in a family with Cowden syndrome and autism.
|
11496368 |
2001 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.
|
11748304 |
2001 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.
|
11476841 |
2001 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
Genital lentigines in a 6-year-old boy with a family history of Cowden's disease: clinical and genetic evidence of the linkage between Bannayan-Riley-Ruvacalba syndrome and Cowden's disease.
|
11685670 |
2001 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
|
10749983 |
2000 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
|
10353779 |
1999 |
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.
|
10468583 |
1999 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
|
10353779 |
1999 |