|
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 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
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 |
CausalMutation
|
disease |
CLINVAR |
Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.
|
18211978 |
2008 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.
|
18551016 |
2008 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.
|
12811540 |
2003 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.
|
21945342 |
2012 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Germ-line mutations in nonsyndromic pheochromocytoma.
|
12000816 |
2002 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.
|
22456618 |
2012 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.
|
11391796 |
2001 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.
|
19825962 |
2009 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.
|
15479192 |
2004 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.
|
25494863 |
2015 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.
|
15328326 |
2004 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.
|
11605159 |
2001 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Novel SDHD germ-line mutations in pheochromocytoma patients.
|
17576205 |
2007 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
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 |
A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency.
|
17406045 |
2007 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.
|
19454582 |
2009 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.
|
11391798 |
2001 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.
|
19454582 |
2009 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.
|
11343322 |
2001 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.
|
22241717 |
2012 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.
|
12111639 |
2002 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Systematic screening and treatment evaluation of hereditary neck paragangliomas.
|
17563904 |
2007 |