|
Pheochromocytoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Phaeochromocytoma/paraganglioma and adverse clinical outcomes in patients with neurofibromatosis-1.
|
30120202 |
2018 |
|
Pheochromocytoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
To be able to pinpoint NF1-related pheochromocytoma (PCC) disease in clinical practice could facilitate the detection of familial cases, but the large size of the NF1 gene makes standard DNA sequencing methods cumbersome.
|
25403449 |
2015 |
|
Pheochromocytoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
It is, therefore, of interest that the NF1 gene has recently been revealed to carry somatic, inactivating mutations in a total of 35 (21.7%) of 161 sporadic pheochromocytomas in two independent tumor series.
|
23756430 |
2013 |
|
Pheochromocytoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In the present study, using mutation screening of the NF1 gene, mapping of chromosome aberrations by single nucleotide polymorphism (SNP) array, microarray-based expression profiling and immunohistochemistry (IHC), we addressed the implication of NF1 somatic alterations in pheochromocytomas and paragangliomas.
|
22962301 |
2012 |
|
Pheochromocytoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Human genetic studies have now shown that 25-30% of patients have hereditary PH due to a germline mutation in the SDHB, SDHD, VHL, RET or NF1 gene and that the identification of a germline SDHB mutation is associated with a high risk of malignancy and a poor prognosis in PH/PGL patients.3.
|
18307724 |
2008 |
|
Pheochromocytoma
|
0.400 |
Biomarker
|
disease |
LHGDN |
Loss-of-heterozygosity of NF1 markers in NF1-related pheochromocytoma was significantly more frequent than in sporadic pheochromocytoma, providing further molecular evidence that pheochromocytoma is a true component of NF1.
|
17426081 |
2007 |
|
Pheochromocytoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-heterozygosity of NF1 markers in NF1-related pheochromocytoma was significantly more frequent than in sporadic pheochromocytoma, providing further molecular evidence that pheochromocytoma is a true component of NF1.
|
17426081 |
2007 |
|
Pheochromocytoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This includes multiple endocrine neoplasia Type 2 (MEN 2) caused by mutations in the RET proto-oncogene, von Hippel-Lindau (VHL) syndrome due to mutations of the VHL gene, neurofibromatosis Type I (NF1) caused by mutations of the NF1 gene, and pheochromocytoma/paraganglioma syndromes due to mutations in genes encoding the succinate dehydrogenase subunits D (SDHD) and B (SDHB).
|
17102076 |
2006 |
|
Pheochromocytoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Neurofibromin was not expressed in Schwann cells and sustentacular cells of composite pheochromocytomas and was very weakly or negatively expressed in neurofibroma of NF1 patients.
|
11904334 |
2002 |
|
Pheochromocytoma
|
0.400 |
Biomarker
|
disease |
CTD_human |
Pheochromocytoma cell lines from heterozygous neurofibromatosis knockout mice.
|
11151443 |
2000 |
|
Pheochromocytoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
To determine whether NF1 gene expression is similarly altered in pheochromocytomas from patients without NF1, we examined 20 pheochromocytomas for the presence of NF1 RNA and neurofibromin by reverse-transcribed polymerase chain reaction (RT-PCR) and immunohistochemistry, respectively.
|
7542904 |
1995 |
|
Pheochromocytoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Since neurofibromin is expressed in the adrenal gland, six pheochromocytomas and one adrenal cortical tumor were examined for neurofibromin expression.
|
7519874 |
1994 |