Associated Papers
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 2025
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
Méndez-Vidal C et al.
Journal of Translational Medicine, 2025
Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.
Cardot-Bauters C et al.
Annales D'endocrinologie, 2024
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas.
Guha A et al.
Frontiers in Endocrinology, 2023
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors.
Ibrahim A et al.
Archives of Pathology & Laboratory Medicine, 2020
Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.
Ma X et al.
Frontiers in Endocrinology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A 18 F-FDOPA PET/CT study.
Amodru V et al.
Head & Neck, 2019
Germline SDHA mutations in children and adults with cancer.
Dubard Gault M et al.
Cold Spring Harbor Molecular Case Studies, 2018
Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.
Miettinen M et al.
The International Journal of Biochemistry & Cell Biology, 2014
Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.
Miettinen M et al.
The American Journal of Surgical Pathology, 2013
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.
Schiavi F et al.
Jama, 2005
Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.
Riemann K et al.
Cancer Genetics and Cytogenetics, 2004
Cytopathies involving mitochondrial complex II.
Ackrell BA
Molecular Aspects of Medicine, 2002
Phenotypic dichotomy in mitochondrial complex II genetic disorders.
Baysal BE et al.
Journal of Molecular Medicine (berlin, Germany), 2001
Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.
Braun S et al.
Anticancer Research, 0