SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
about
Combined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial diseasePheochromocytomas and Paragangliomas: Clinical and Genetic ApproachesDecoding Warburg's hypothesis: tumor-related mutations in the mitochondrial respiratory chainHead and neck paragangliomas: clinical and molecular genetic classificationAn update on the genetics of pheochromocytomaIdentification of a protein mediating respiratory supercomplex stabilityGenotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience.Molecular markers of paragangliomas/pheochromocytomasParagangliomas/Pheochromocytomas: clinically oriented genetic testingSuccinate dehydrogenase - Assembly, regulation and role in human disease.SDHA is a tumor suppressor gene causing paraganglioma.SDH-related pheochromocytoma and paraganglioma.Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors10 rare tumors that warrant a genetics referral.Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.Metastatic paraganglioma.Age at diagnosis of pheochromocytoma differs according to catecholamine phenotype and tumor location.Genetic testing for pheochromocytoma.Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma.Towards imaging metabolic pathways in tissues.Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutationsFamilial pediatric endocrine tumors.Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from PheochromocytomaStaging and functional characterization of pheochromocytoma and paraganglioma by 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography.Paragangliomas and paraganglioma syndromes.New roles of carboxypeptidase E in endocrine and neural function and cancer.Pheochromocytoma/Paraganglioma: Review of perioperative management of blood pressure and update on genetic mutations associated with pheochromocytoma.Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiencyGenetic screening for von Hippel-Lindau gene mutations in non-syndromic pheochromocytoma: low prevalence and false-positives or misdiagnosis indicate a need for caution.Current and future anatomical and functional imaging approaches to pheochromocytoma and paraganglioma.Acetoacetate Accelerates Muscle Regeneration and Ameliorates Muscular Dystrophy in Mice.Impaired mitochondrial metabolism and mammary carcinogenesisMolecular and therapeutic advances in the diagnosis and management of malignant pheochromocytomas and paragangliomasFamiliar Papillary Thyroid Carcinoma in a Large Brazilian Family Is Not Associated with Succinate Dehydrogenase Defects.Familial pheochromocytomas and paragangliomas.Pheochromocytoma and paraganglioma syndromes: genetics and management update.18F-FDG PET/CT as a predictor of hereditary head and neck paragangliomasGlobal DNA Methylation Analysis Identifies Two Discrete clusters of Pheochromocytoma with Distinct Genomic and Genetic Alterations.Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma
P2860
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P2860
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
@ast
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
@en
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
@nl
type
label
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
@ast
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
@en
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
@nl
prefLabel
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
@ast
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
@en
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
@nl
P2093
P50
P1433
P1476
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
@en
P2093
A Karim Hussain
Adolfo Hinojar-Gutierrez
Annette H J T Vriends
Carli M Tops
Carlos Suárez
Cor W R J Cremers
Eleonora P Corssmit
Esther Korpershoek
Frederik J Hes
Henri J L M Timmers
P304
P356
10.1016/S1470-2045(10)70007-3
P577
2010-01-11T00:00:00Z