Associated Papers
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.
Cardot-Bauters C et al.
Annales D'endocrinologie, 2024
Consanguineous couple with SDHD gene mutations: Diagnosis, treatment, and implications of family genetic testing.
Braegelmann J et al.
Clinical Case Reports, 2024
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.
Richter S et al.
Endocrine-related Cancer, 2022
Characteristics and genetic testing outcomes of patients with clinically suspected paraganglioma/pheochromocytoma (PGL/PCC) syndrome in Singapore.
Ting KR et al.
Hereditary Cancer in Clinical Practice, 2020
SDHx gene detection and clinical Phenotypic analysis of multiple paraganglioma in the head and neck.
Ding Y et al.
The Laryngoscope, 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 importance of genetic study and long-term management in patients with bilateral pheochromocytomas.
Bellarbi DE et al.
Archive of Clinical Cases, 2019
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
Andrews KA et al.
Journal of Medical Genetics, 2018
The clinical utility of circulating neuroendocrine gene transcript analysis in well-differentiated paragangliomas and pheochromocytomas.
Pęczkowska M et al.
European Journal of Endocrinology, 2017
Mediastinal paragangliomas related to SDHx gene mutations.
Michałowska I et al.
Kardiochirurgia I Torakochirurgia Polska = Polish Journal of Cardio-thoracic Surgery, 2016
Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes.
Michałowska I et al.
Polish Journal of Radiology, 2016
15 YEARS OF PARAGANGLIOMA: Genetics and mechanism of pheochromocytoma-paraganglioma syndromes characterized by germline SDHB and SDHD mutations.
Baysal BE et al.
Endocrine-related Cancer, 2015
Usefulness of Somatostatin Receptor Scintigraphy (Tc-[HYNIC, Tyr3]-Octreotide) and 123I-Metaiodobenzylguanidine Scintigraphy in Patients with SDHx Gene-Related Pheochromocytomas and Paragangliomas Detected by Computed Tomography.
Michałowska I et al.
Neuroendocrinology, 2015
Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers: a systematic review and meta-analysis.
van Hulsteijn LT et al.
Journal of Medical Genetics, 2012
Novel germline SDHD mutation: diagnosis and implications to the patient.
Varghese J et al.
Familial Cancer, 2011
The approach to the patient with paraganglioma.
Neumann HP et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.
Neumann HP et al.
Cancer Research, 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
Malignant paraganglioma caused by a novel germline mutation of the succinate dehydrogenase D-gene--a case report.
Papaspyrou K et al.
Head & Neck, 2008
Novel SDHD germ-line mutations in pheochromocytoma patients.
Neumayer C et al.
European Journal of Clinical Investigation, 2007
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
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.
Neumann HP et al.
Jama, 2004
Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.
Astrom K et al.
Human Genetics, 2003
The pressure rises: update on the genetics of phaeochromocytoma.
Maher ER et al.
Human Molecular Genetics, 2002
Hereditary paraganglioma targets diverse paraganglia.
Baysal BE
Journal of Medical Genetics, 2002
Germ-line mutations in nonsyndromic pheochromocytoma.
Neumann HP et al.
The New England Journal of Medicine, 2002
Eleven-year follow-up of cardiac paraganglioma in a patient with SDHD C11X gene mutation.
Michałowska AM et al.
Kardiologia Polska, 0