Associated Papers
SDHA-related phaeochromocytoma and paraganglioma: review and clinical management.
Kaplan AI et al.
Endocrine-related Cancer, 2024
Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.
Cardot-Bauters C et al.
Annales D'endocrinologie, 2024
SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.
Schipani A et al.
Genes, 2023
Targeted metabolomics detects a putatively diagnostic signature in plasma and dried blood spots from head and neck paraganglioma patients.
De Fabritiis S et al.
Oncogenesis, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor.
Pantaleo MA et al.
Frontiers in Oncology, 2021
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL).
Maniam P et al.
Journal of the Endocrine Society, 2018
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.
Bausch B et al.
Jama Oncology, 2017
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.
Casey RT et al.
Molecular Genetics & Genomic Medicine, 2017
Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.
Miettinen M et al.
The International Journal of Biochemistry & Cell Biology, 2014
Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.
Pantaleo MA et al.
European Journal of Human Genetics : Ejhg, 2014
An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumours (GIST).
Nannini M et al.
Journal of Medical Genetics, 2013
Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors.
Belinsky MG et al.
Frontiers in Oncology, 2013
Impressive long-term disease stabilization by nilotinib in two pretreated patients with KIT/PDGFRA wild-type metastatic gastrointestinal stromal tumours.
Pantaleo MA et al.
Anti-cancer Drugs, 2012
A distinct pediatric-type gastrointestinal stromal tumor in adults: potential role of succinate dehydrogenase subunit A mutations.
Pantaleo MA et al.
The American Journal of Surgical Pathology, 2011