Paragangliomas 1
What's New
Last Posted: Aug 10, 2023
- Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience.
José V Lima et al. Endocr Oncol 2023 3(1) e220091 - Metastatic pheochromocytoma and paraganglioma: Somatostatin receptor 2 expression, genetics and therapeutic responses.
Alessa Fischer et al. The Journal of clinical endocrinology and metabolism 2023 - Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
Carrasco Estela et al. Journal of medical genetics 2022 - Universal Germline Panel Testing for Individuals with Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield.
Horton Carolyn et al. The Journal of clinical endocrinology and metabolism 2022 - Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma.
Pipitprapat Weenita et al. Annals of medicine 2021 53(1) 1243-1255 - Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas.
De Sousa Sunita M C et al. Journal of the Endocrine Society 2020 Dec 4(12) bvaa071 - Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas.
Snezhkina Anastasiya V et al. International journal of molecular sciences 2020 Sep 21(18) - Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.
Ben Aim Laurène et al. Journal of medical genetics 2019 56(8) 513-520 - An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma.
Buffet Alexandre et al. Best practice & research. Clinical endocrinology & metabolism 2020 Mar 101416 - The clinical applications of a multigene liquid biopsy (NETest) in neuroendocrine tumors.
Malczewska Anna et al. Advances in medical sciences 2019 Dec 65(1) 18-29 - Genetic Profile of Indian Pheochromocytoma and Paraganglioma Patients - A Single Institutional Study.
Agarwal Gaurav et al. Indian journal of endocrinology and metabolism 23(4) 486-490 - Pheochromocytoma/Paraganglioma: Is This a Genetic Disorder?
Fishbein Lauren et al. Current cardiology reports 2019 Jul 21(9) 104 - Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.
Gieldon Laura et al. Cancers 2019 Jun 11(6) - Characterization of Malignant Head and Neck Paragangliomas at a Single Institution Across Multiple Decades.
McCrary Hilary C et al. JAMA otolaryngology-- head & neck surgery 2019 Jun - Emerging molecular markers of metastatic pheochromocytomas and paragangliomas.
Goncalves Judith et al. Annales d'endocrinologie 2019 Apr - Positive impact of genetic test on the management and outcome of patients with paraganglioma and/or pheochromocytoma.
Buffet Alexandre et al. The Journal of clinical endocrinology and metabolism 2019 Jan - An analysis of surveillance screening for SDHB-related disease in childhood and adolescence.
Tufton Nicola et al. Endocrine connections 2019 Jan - Is routine genetic testing warranted in head and neck paragangliomas?
Gupta Nidhi et al. The Laryngoscope 2018 Dec - Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma.
Muth A et al. Journal of internal medicine 2018 Dec - Succinate dehydrogenase mutations: paraganglioma imaging and at-risk population screening.
Cavenagh T et al. Clinical radiology 2018 Dec - Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients.
Huang Yiqiang et al. Endocrine connections 2018 Oct - Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging.
Rogowski-Lehmann Natalie et al. Endocrine connections 2018 Sep - Succinate Dehydrogenase-Deficient Renal Cell Carcinoma: A Short Review.
Wang Gang et al. Archives of pathology & laboratory medicine 2018 Oct 142(10) 1284-1288 - Pheochromocytoma: When to search a germline defect?
Buffet Alexandre et al. Presse medicale (Paris, France : 1983) 47(7-8 Pt 2) e109-e118 - Study of germline mutations in patients with pheochromocytoma and paraganglioma in a tertiary level university hospital: Which patients have been studied and what results have been found?
Jiménez Cortes María et al. Endocrinologia, diabetes y nutricion 2018 Aug - Exosomal double-stranded DNA as a biomarker for the diagnosis and preoperative assessment of pheochromocytoma and paraganglioma.
Wang Liang et al. Molecular cancer 2018 Aug 17(1) 128 - Phaeochromocytoma/paraganglioma and adverse clinical outcomes in patients with neurofibromatosis-1.
Al-Sharefi Ahmed et al. Endocrine connections 2018 Aug - Local Coverage Determination (LCD): Biomarker Testing for Neuroendocrine Tumors/Neoplasms (L37851)
The U.S. Centers for Medicare & Medicaid Services - CLINGEN Actionability Report for Paragangliomas 1, 2, 3, 4, 5; Pheochromocytoma- MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127
ClinGen Actionability Working Group - CLINGEN Actionability Report for Von Hippel-Lindau Syndrome - VHL
ClinGen Actionability Working Group
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
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- Fragile X Syndrome
- Gaucher Disease
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- Graves Disease
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- Microcephaly
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- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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