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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
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Last data update: Apr 29, 2024
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Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience.
José V Lima et al. Endocr Oncol 2023 3(1) e220091
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Metastatic pheochromocytoma and paraganglioma: Somatostatin receptor 2 expression, genetics and therapeutic responses.
Alessa Fischer et al. The Journal of clinical endocrinology and metabolism 2023
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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
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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
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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
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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
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Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas.
Snezhkina Anastasiya V et al. International journal of molecular sciences 2020 Sep 21(18)
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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
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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
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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
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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
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Pheochromocytoma/Paraganglioma: Is This a Genetic Disorder?
Fishbein Lauren et al. Current cardiology reports 2019 Jul 21(9) 104
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Local Coverage Determination (LCD): Biomarker Testing for Neuroendocrine Tumors/Neoplasms (L37851)
The U.S. Centers for Medicare & Medicaid Services
CLINGEN Actionability Report for Von Hippel-Lindau Syndrome - VHL
ClinGen Actionability Working Group
CLINGEN Actionability Report for Paragangliomas 1, 2, 3, 4, 5; Pheochromocytoma- MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127
ClinGen Actionability Working Group
Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.
Gieldon Laura et al. Cancers 2019 Jun 11(6)
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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
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Emerging molecular markers of metastatic pheochromocytomas and paragangliomas.
Goncalves Judith et al. Annales d'endocrinologie 2019 Apr
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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
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An analysis of surveillance screening for SDHB-related disease in childhood and adolescence.
Tufton Nicola et al. Endocrine connections 2019 Jan
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Is routine genetic testing warranted in head and neck paragangliomas?
Gupta Nidhi et al. The Laryngoscope 2018 Dec
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Succinate dehydrogenase mutations: paraganglioma imaging and at-risk population screening.
Cavenagh T et al. Clinical radiology 2018 Dec
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Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma.
Muth A et al. Journal of internal medicine 2018 Dec
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Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients.
Huang Yiqiang et al. Endocrine connections 2018 Oct
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Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging.
Rogowski-Lehmann Natalie et al. Endocrine connections 2018 Sep
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Succinate Dehydrogenase-Deficient Renal Cell Carcinoma: A Short Review.
Wang Gang et al. Archives of pathology & laboratory medicine 2018 Oct 142(10) 1284-1288
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Pheochromocytoma: When to search a germline defect?
Buffet Alexandre et al. Presse medicale (Paris, France : 1983) 47(7-8 Pt 2) e109-e118
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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
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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
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Phaeochromocytoma/paraganglioma and adverse clinical outcomes in patients with neurofibromatosis-1.
Al-Sharefi Ahmed et al. Endocrine connections 2018 Aug
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 29, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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