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Last Posted: Jul 07, 2023
- A phase Ib/II dose expansion study of subcutaneous sasanlimab in patients with locally advanced or metastatic non-small-cell lung cancer and urothelial carcinoma.
B C Cho, et al. ESMO open 2023 0 (4) 101589 - A synonymous VHL variant in exon 2 confers susceptibility to familial pheochromocytoma and von Hippel-Lindau disease.
Flores Shahida K, et al. The Journal of clinical endocrinology and metabolism 2019 0 (9) 3826-34 - Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.
Kim Hye In, et al. American journal of human genetics 2020 0 (2) 251-264 - Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians.
Piaggi Paolo, et al. The Journal of clinical endocrinology and metabolism 2020 0 (11) e3989-4000 - Systematic population-based identification of NTRK and RET fusion-positive thyroid cancers.
Eszlinger Markus, et al. European thyroid journal 2022 0 (1) - Association of protein function-altering variants with cardiometabolic traits: the strong heart study.
Shan Yue, et al. Scientific reports 2022 6 (1) 9317 - Assessing established BMI variants for a role in nighttime eating behavior in robustly phenotyped Southwestern American Indians.
Köro?lu Çi?dem, et al. European journal of clinical nutrition 2020 5 - Mannose-binding lectin may affect pregnancy outcome.
Çalkavur ?ebnem, et al. The Turkish journal of pediatrics 0 0 (1) 26-33 - [Frequency of glucose-6-phosphate dehydrogenase deficiency (A-376/202) in three Malian ethnic groups].
Dolo A, et al. Bulletin de la Société de pathologie exotique (1990) 2014 8 (3) 165-70 - The role of prothrombotic factors in children with hemiplegic cerebral palsy.
Türedi Yildirim A, et al. Minerva pediatrica 2015 8 (4) 279-284
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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
- Page last updated:Apr 21, 2024
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