Last Posted: Aug 10, 2019
- Screening of AIP Gene Variations in a Cohort of Turkish Patients with Young-Onset Sporadic Hormone-Secreting Pituitary Adenomas.
Tuncer Feyza Nur, et al. Genetic testing and molecular biomarkers 2018 11
- MEN1 in children and adolescents: Data from patients of a regional referral center for hereditary endocrine tumors.
Vannucci Letizia et al. Endocrine 2018 59(2) 438-448
- CLINGEN Actionability Report for Multiple Endocrine Neoplasia Type I - MEN1
ClinGen Actionability Working Group
- AIP mutations in Brazilian patients with sporadic pituitary adenomas: a single-center evaluation.
Araujo Paula Bruna, et al. Endocrine connections 2017 10
- The Role of p16 and MDM2 Gene Polymorphisms in Prolactinoma: MDM2 Gene Polymorphisms May Be Associated with Tumor Shrinkage.
Turgut Seda, et al. In vivo (Athens, Greece) 0 0 (3) 357-363
- Cabergoline and prolactinomas: lack of association between DRD2 polymorphisms and response to treatment.
Bueno Cbf, et al. Pituitary 2016 11
- Polymorphisms in MEN1 and DRD2 genes are associated with the occurrence and characteristics of pituitary adenomas.
Peculis Raitis, et al. European journal of endocrinology / European Federation of Endocrine Societies 2016 5
- Association between p16(CDKN2A) C540G polymorphism and tumor behavior in prolactinoma: A single-center study.
Cander Soner, et al. Biomedical reports 2014 7 (4) 589-595
- Do the aryl hydrocarbon receptor interacting protein variants (Q228K and Q307R) play a role in patients with familial and sporadic hormone-secreting pituitary adenomas?
Yarman Sema, et al. Genetic testing and molecular biomarkers 2015 7 (7) 394-8
- The effect of the ANKK1/DRD2 Taq1A polymorphism on weight changes of dopaminergic treatment in prolactinomas.
Athanasoulia A P, et al. Pituitary 2014 6 (3) 240-5
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.