Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.
|
27279923 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Mediastinal paragangliomas related to SDHx gene mutations.
|
27785149 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Usefulness of Somatostatin Receptor Scintigraphy (Tc-[HYNIC, Tyr3]-Octreotide) and 123I-Metaiodobenzylguanidine Scintigraphy in Patients with SDHx Gene-Related Pheochromocytomas and Paragangliomas Detected by Computed Tomography.
|
25791839 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).
|
25720320 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
|
26008905 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Succinate dehydrogenase-deficient gastrointestinal stromal tumors.
|
25741136 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
|
26008905 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5.
|
26273102 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.
|
25494863 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.
|
25695889 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5.
|
26273102 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.
|
25300370 |
2014 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.
|
24102379 |
2014 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad.
|
24859990 |
2014 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.
|
25300370 |
2014 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Pitfalls in genetic analysis of pheochromocytomas/paragangliomas-case report.
|
24758185 |
2014 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Krebs cycle metabolite profiling for identification and stratification of pheochromocytomas/paragangliomas due to succinate dehydrogenase deficiency.
|
25014000 |
2014 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome.
|
25275255 |
2014 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Sporadic or familial head neck paragangliomas enrolled in a single center: clinical presentation and genotype/phenotype correlations.
|
22290790 |
2013 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations.
|
23433498 |
2013 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.
|
23175444 |
2013 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
|
23666964 |
2013 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.
|
23512077 |
2013 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.
|
22241717 |
2012 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.
|
22241717 |
2012 |