|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in SDH genes ( SDHA, SDHB, SDHC, or SDHD) suggest Carney-Stratakis syndrome, a paraganglioma syndrome with predisposition for GIST.
|
30301441 |
2019 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
SDH deficiency may result from germline SDHA, SDHB, SDHC, or SDHD mutations and is found in autosomal-dominant familial paraganglioma/pheochromocytoma and Carney-Stratakis syndrome, describing the combination of paraganglioma and gastrointestinal stromal tumor (GIST).
|
29339836 |
2018 |
|
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 |
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 |
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 |
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.
|
26269449 |
2015 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome.
|
25275255 |
2014 |
|
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 |
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 |
Genetic testing in head and neck paraganglioma: who, what, and why?
|
24436918 |
2013 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
They may be syndromal with some being associated with the Carney Triad or germline SDHA, SDHB, SDHC, or SDHD mutations (Carney-Stratakis syndrome).
|
23060355 |
2013 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
Biomarker
|
disease |
BEFREE |
Some of these patients have germline mutations of SDH subunit genes SDHB, SDHC, or SDHD, known as Carney-Stratakis syndrome when combined with paraganglioma.
|
23282968 |
2013 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations.
|
23433498 |
2013 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.
|
23512077 |
2013 |
|
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 |
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 |
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 |
The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.
|
22456618 |
2012 |
|
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 |
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 |
Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.
|
21937622 |
2011 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy.
|
22025150 |
2011 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?
|
21792967 |
2011 |
|
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 |
Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome.
|
20098451 |
2010 |