PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic predisposition to kidney cancer.
|
27899189 |
2016 |
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
It is now known that neurofibromatosis-1-associated GISTs are SDHB-positive, whereas Carney-Stratakis syndrome-associated GISTs are SDHB-deficient with underlying germline mutations in SDH subunits A-D.
|
24840526 |
2014 |
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
Biomarker
|
disease |
BEFREE |
WT KIT/PDGFRA/BRAF GISTs without SDHB or SDHA/SDHB expression may correspond to Carney-Stratakis dyad or Carney triad.
|
22948025 |
2013 |
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
|
22972948 |
2012 |
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
|
22972948 |
2012 |
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
Biomarker
|
disease |
BEFREE |
All GISTs from patients with Carney-Stratakis syndrome and Carney triad were negative for SDHB immunohistochemically.
|
20890271 |
2011 |
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Eleven out of 14 (79%) patients with PGLs of the organ of Zuckerkandl were found to have mutations in the SDHB (9) or SDHD (2) genes; one patient was found to have the Carney-Stratakis syndrome (CSS), and his PGL was discovered during surgery for gastrointestinal stromal tumor.
|
20418362 |
2010 |
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
Biomarker
|
disease |
BEFREE |
This editorial summarizes some of these advances: the identification of the AIP, and the PDE11A and PDE8B genes by genome-wide association (GWA) studies as predisposing genes for pituitary and adrenal tumours, respectively, the discovery of p27 mutations in a new form of MEN similar to MEN type 1 (MEN 1) that is now known as MEN 4, the molecular investigations of Carney triad (CT), a disorder that associates paragangliomas (PGLs), gastrointestinal stromal tumour (GISTs), and pulmonary chondromas (PCH) with pheochromocytomas and adrenocortical adenomas and other lesions, and the molecular elucidation of the association of GISTs with paragangliomas (Carney-Stratakis syndrome) that is now known to be because of SDHB, SDHC, and SDHD mutations.
|
19522821 |
2009 |
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.
|
17667967 |
2008 |
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
We investigated 11 patients with the dyad of 'paraganglioma and gastric stromal sarcoma'; in eight (from seven unrelated families), the GISTs were caused by germline mutations of the genes encoding subunits B, C, or D (the SDHB, SDHC and SDHD genes, respectively).
|
17667967 |
2008 |
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
Biomarker
|
disease |
CTD_human |
|
|
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|