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
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About Rare Diseases PHGKB
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
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- 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.
- Page last reviewed:Feb 1, 2024
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