|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.
|
22517554 |
2012 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.
|
23175444 |
2013 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
|
19802898 |
2010 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.
|
21348866 |
2012 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior.
|
19075037 |
2009 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.
|
19351833 |
2009 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome.
|
20098451 |
2010 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1α/miR-210 signaling pathway.
|
23902947 |
2013 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
W43X SDHD mutation in sporadic head and neck paraganglioma.
|
18561749 |
2008 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.
|
11897817 |
2002 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
|
26008905 |
2015 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.
|
27279923 |
2016 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.
|
18826997 |
2008 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
A role for mitochondrial enzymes in inherited neoplasia and beyond.
|
12612654 |
2003 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment.
|
12509798 |
2003 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Genetic testing in head and neck paraganglioma: who, what, and why?
|
24436918 |
2013 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Germline SDHD mutation in familial phaeochromocytoma.
|
11323050 |
2001 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
|
16317055 |
2006 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.
|
10657297 |
2000 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.
|
10657297 |
2000 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.
|
19584903 |
2010 |