Last Posted: Aug 05, 2021
- 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
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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics 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.