Paraganglioma of head and neck
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The spectrum of SDHD mutations in Russian patients with head and neck paraganglioma.
|
30375904 |
2018 |
Paraganglioma of head and neck
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to head-and-neck-paraganglioma (HNPGL), sympathetic PGL, pheochromocytoma and renal cell carcinoma for which regular surveillance is required.
|
27573198 |
2017 |
Paraganglioma of head and neck
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SDHD were the leading cause of HNPGL in this study.
|
26096992 |
2015 |
Paraganglioma of head and neck
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
One patient with multifocal head and neck paraganglioma (PGL) and pheochromocytoma (PHEO) carried a SDHD mutation.
|
24134185 |
2014 |
Paraganglioma of head and neck
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Clinical surveillance revealed a head and neck paraganglioma in 28 of the 47 (59.6%) asymptomatic SDHD mutation carriers.
|
22948026 |
2013 |
Paraganglioma of head and neck
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We evaluated VHL, SDHB and SDHD mutation testing in cohorts of patients with non-syndromic PPGL and head and neck paraganglioma (HNPGL).
|
23072324 |
2013 |
Paraganglioma of head and neck
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients.
|
21561462 |
2011 |
Paraganglioma of head and neck
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
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 of head and neck
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Hereditary head and neck paraganglioma (HNPGL) syndromes are associated with mutations in the SDHD(PGL1), SDHC(PGL3), and SDHB(PGL4) genes encoding succinate dehydrogenase subunits.
|
21224366 |
2011 |
Paraganglioma of head and neck
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Novel germline SDHD deletion associated with an unusual sympathetic head and neck paraganglioma.
|
20310044 |
2011 |
Paraganglioma of head and neck
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A head and neck paraganglioma was present in 97.7% of the SDHD and 87.5% of the SDHC mutation carriers, but in only 42.7% of the SDHB carriers.
|
19454582 |
2009 |
Paraganglioma of head and neck
|
0.200 |
Biomarker
|
disease |
BEFREE |
SDHB, SDHC, and SDHD molecular screening is important in all HNPs, with or without primary indicators of paraganglioma syndrome, to orient mutation-driven clinical screening for additional HNPs and pheochromocytoma.
|
17102086 |
2006 |
Paraganglioma of head and neck
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To further investigate the role of SDHD and SDHB in the development of these tumours we determined the occurrence of germline SDHD and SDHB mutations in four patients with a family history of phaeochromocytoma with associated head and neck paraganglioma, one patient with a family history of phaeochromocytoma only and two patients with apparently sporadic extra-adrenal phaeochromocytoma, one of whom had early onset disease.
|
12618761 |
2003 |
Paraganglioma of head and neck
|
0.200 |
Biomarker
|
disease |
BEFREE |
Combining our results with those from two other large studies in which both SDHB and SDHD have been analysed, SDHB mutations were most commonly associated with phaeochromocytoma susceptibility and SDHD with the development of HNPGL (P = 0.025).
|
14974914 |
2003 |
Paraganglioma of head and neck
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline SDHD mutation analysis should be done in individuals with familial, multiple, or early-onset phaeochromocytomas even if a personal or family history of head and neck paraganglioma is absent.
|
11323050 |
2001 |
Paraganglioma of head and neck
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Hereditary paraganglioma of the head and neck is associated with germline mutations in the SDHD gene, which encodes a mitochondrial respiratory chain protein.
|
11526495 |
2001 |
Paraganglioma of head and neck
|
0.200 |
Biomarker
|
disease |
BEFREE |
Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands.
|
9683583 |
1998 |
Paraganglioma of head and neck
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|