Associated Papers
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
A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant.
Foley M et al.
Familial Cancer, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
A Novel Germline SDHA Gene Mutation and Co-Occurring Somatic KIT Activating Mutation in a Patient With Pediatric Central Nervous System Germ Cell Tumor: Case Report.
Yue X et al.
Frontiers in Oncology, 2022
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
Clinical significance and peculiarities of succinate dehydrogenase B and hypoxia inducible factor 1α expression in parasympathetic versus sympathetic paragangliomas.
Bernardo-Castiñeira C et al.
Head & Neck, 2019
The emerging role and targetability of the TCA cycle in cancer metabolism.
Anderson NM et al.
Protein & Cell, 2018
Succinate dehydrogenase deficiency in a PDGFRA mutated GIST.
Belinsky MG et al.
Bmc Cancer, 2017
Metabolic synthetic lethality in cancer therapy.
Zecchini V et al.
Biochimica Et Biophysica Acta. Bioenergetics, 2017
Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.
Evenepoel L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Genetic testing in head and neck paraganglioma: who, what, and why?
Sridhara SK et al.
Journal of Neurological Surgery. Part B, Skull Base, 2013
Genetic and clinical characteristics of head and neck paragangliomas in a Chinese population.
Zheng X et al.
The Laryngoscope, 2012
Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.
Yeap PM et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
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?
Zha Y et al.
The Laryngoscope, 2011
Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome.
Ayala-Ramirez M et al.
Nature Reviews. Endocrinology, 2010
Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma.
Meyer-Rochow GY et al.
The Journal of Surgical Research, 2009
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.
Burnichon N et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.
Pasini B et al.
Journal of Internal Medicine, 2009
The pheochromocytoma and paraganglioma syndrome: founder effects and the PGL 1 syndrome.
Opocher G et al.
Annales D'endocrinologie, 2009
Genetics of pheochromocytoma and paraganglioma in Spanish patients.
Cascón A et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.
Peczkowska M et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Cervical paragangliomas: is SDH genetic analysis systematically required?
Fakhry N et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2008
Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.
Pigny P et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Maternal transmission of symptomatic disease with SDHD mutation: fact or fiction?
Neumann HP et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.
Timmers HJ et al.
Clinical Endocrinology, 2008
W43X SDHD mutation in sporadic head and neck paraganglioma.
Galera-Ruiz H et al.
Analytical and Quantitative Cytology and Histology, 2008
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
Benn DE et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Mutation analysis of the SDHD gene in four kindreds with familial paraganglioma: description of one novel germline mutation.
Velasco A et al.
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 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
Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.
Cascon A et al.
European Journal of Human Genetics : Ejhg, 2002
Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.
Braun S et al.
Anticancer Research, 0
Treatment Response Monitoring Using a Tumor-Informed Circulating Tumor DNA Test in an Advanced Triple-Negative Breast Cancer Patient: A Case Report.
Azzi G et al.
Case Reports in Oncology, 0