Last Posted: Apr 25, 2023
- Artificial intelligence with a deep learning network for the quantification and distinction of functional adrenal tumors based on contrast-enhanced CT images.
Parehe Alimu et al. Quant Imaging Med Surg 2023 13(4) 2675-2687
- Glucocorticoid receptor polymorphism BclI with increased glucocorticoid sensitivity has a positive influence on Quality of Life in Endogenous Cushing's syndrome in remission.
Feldkamp Lara, et al. European journal of endocrinology 2023 0
- A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report.
Liu Qiuli, et al. BMC medical genetics 2018 0 (1) 49
- COL3A1, COL6A3, and SERPINH1 Are Related to Glucocorticoid-Induced Osteoporosis Occurrence According to Integrated Bioinformatics Analysis.
Li Liuxun, et al. Medical science monitor : international medical journal of experimental and clinical research 2020 0 e925474
- Intratumoral heterogeneity of the tumor cells based on in situ cortisol excess in cortisol-producing adenomas; ?An association among morphometry, genotype and cellular senescence?.
Gao Xin, et al. The Journal of steroid biochemistry and molecular biology 2020 0 105764
- A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance.
Paragliola Rosa Maria, et al. Molecular diagnosis & therapy 2020 0 (4) 473-485
- A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease.
De Sousa Sunita M C, et al. BMC endocrine disorders 2020 0 (1) 18
- Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules.
Mariani Beatriz Marinho de Paula, et al. Frontiers in endocrinology 2020 0 36
- Plasma Cortisol and Risk of Atrial Fibrillation: A Mendelian Randomization Study.
Larsson Susanna C, et al. The Journal of clinical endocrinology and metabolism 2021 0 (7) e2521-e2526
- Secondary hypertriglyceridemia.
Viñals Clara, et al. Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis 2021 0 29-36
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
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.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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