Last Posted: Apr 10, 2021
- Genetic Polymorphisms in DNA Repair Gene APE1/Ref-1 and the Risk of Neural Tube Defects in a High-Risk Area of China.
Wang Xiuwei, et al. Reproductive sciences (Thousand Oaks, Calif.) 2021 3
- Genetic variants in GRHL3 and risk for neural tube defects: A case-control and case-parent triad/control study.
Yang Wenlei, et al. Birth defects research 2019 7
- A functional indel polymorphism rs34396413 in TFAP2A intron-5 significantly increases female encephalocele risk in Han Chinese population.
Su Ke, et al. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2019 4
- Evidence of gene-gene interactions between MTHFD1 and MTHFR in relation to anterior encephalocele susceptibility in Northeast India.
Dutta Hemonta Kr, et al. Birth defects research 2017 4 (6) 432-444
- Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.
Al-Hamed Mohamed H, et al. Journal of medical genetics 2016 2
- Paternal transmission of MTHFD1 G1958A variant predisposes to neural tube defects in the offspring.
Prasoona Kattekola R, et al. Developmental medicine and child neurology 2015 9
- Association between maternal single nucleotide polymorphisms in genes regulating glucose metabolism and risk for neural tube defects in offspring.
Fu Yunting, et al. Birth defects research. Part A, Clinical and molecular teratology 2015 6 (6) 471-8
- Effect of maternal Tp53 gene G412C polymorphism on neural tube defects: A study from North India.
Arora J, et al. Indian journal of human genetics 2012 5 (2) 2
- Glutamate carboxypeptidase II gene polymorphisms and neural tube defects in a high-risk Chinese population.
Xie Hua, et al. Metabolic brain disease 2012 3 (1) 59-65
From NCATS Genetic and Rare Diseases Information Center
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.