Last Posted: Nov 14, 2019
- Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Palomaki Glenn E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov
- Patient Preferences for Prenatal Testing and Termination of Pregnancy for Congenital Anomalies and Genetic Diseases in Ethiopia.
Brooks Daniel et al. Prenatal diagnosis 2019 May
- Application of quality indicators to data from the National Network of Congenital Anomalies of Argentina.
Groisman Boris et al. Birth defects research 2019 Feb
- Polymorphism rs1052536 in Base Excision Repair Gene Is a Risk Factor in a High-Risk Area of Neural Tube Defects in China.
Li Guannan, et al. Medical science monitor : international medical journal of experimental and clinical research 2018 7 5015-5026
- Maternal Association and Influence of DHFR 19bp Deletion Variant Predisposes Fetus to Anencephaly Susceptibility: A Family-based Triad Study.
Prasoona K R, et al. Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals 2018 4 1-19
- Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort.
Chen Zhongzhong, et al. Human genetics 2018 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
- Association between PKA gene polymorphism and NTDs in high risk Chinese population in Shanxi.
Wu Jian, et al. International journal of clinical and experimental pathology 2013 0 (12) 2968-74
- Variants in maternal COMT and MTHFR genes and risk of neural tube defects in offspring.
Liu Jufen, et al. Metabolic brain disease 2015 4 (2) 507-13
- Functional variant in methionine synthase reductase intron-1 is associated with pleiotropic congenital malformations.
Cheng Haiqin, et al. Molecular and cellular biochemistry 2015 9 (1-2) 51-6
- Association between maternal COMT gene polymorphisms and fetal neural tube defects risk in a Chinese population.
Liu Jufen, et al. Birth defects research. Part A, Clinical and molecular teratology 2014 1 (1) 22-9
- Mutations in planar cell polarity gene SCRIB are associated with spina bifida.
Lei Yunping, et al. PloS one 2013 0 (7) e69262
- Mutation screening of AURKB and SYCP3 in patients with reproductive problems.
López-Carrasco A, et al. Molecular human reproduction 2012 10
- Maternal PCMT1 gene polymorphisms and the risk of neural tube defects in a Chinese population of Lvliang high-risk area.
Zhao Huizhi, et al. Gene 2012 9 (2) 340-4
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- 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
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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.