Kuru
What's New
Last Posted: Jun 18, 2024
- Loss-of-function polymorphisms in NQO1 are not associated with the development of subacute myelo-optico-neuropathy.
Hideki Matsumoto, et al. Molecular genetics & genomic medicine 2024 0 (6) e2470 - RB1 gene mutations and genetic spectrum in retinoblastoma cases.
Demet Akdeniz Odemis, et al. Medicine 2023 0 (36) e35068 - Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.
Nilay Güne?, et al. Turkish archives of pediatrics 2023 0 - Defining the phenotypic spectrum of sporadic Creutzfeldt-Jakob disease MV2K: the kuru plaque type.
Baiardi Simone, et al. Brain : a journal of neurology 2023 0 - Disease severity and genotype-phenotype correlation in adult patients with familial Mediterranean fever.
Tuncer Kuru Fatma, et al. Modern rheumatology 2023 0 - Genomic features of renal cell carcinoma with venous tumor thrombus.
Warsow Gregor, et al. Scientific reports 2018 0 (1) 7477 - Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.
Akdeniz Demet, et al. Molecular genetics & genomic medicine 2019 0 (8) e785 - First Molecular Detection of Pneumocystis spp. in the Golden Jackal (Canis aureus).
Kureljuši? Branislav, et al. Journal of wildlife diseases 2022 0 (4) 897-901 - FGFR4 c.1162G?>?A (p.Gly388Arg) Polymorphism Analysis in Turkish Patients with Retinoblastoma.
Akdeniz Odemis Demet, et al. Journal of oncology 2021 0 9401038 - The impact of the presence of fibromyalgia on fatigue in patients with psoriatic arthritis: comparison with controls.
Ulus Yasemin, et al. Advances in rheumatology (London, England) 2020 0 (1) 1
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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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