Anencephaly
What's New
Last Posted: Jul 16, 2024
- Association between the MTHFR (rs1801133) gene variation and serum trace elements levels (Copper and Zinc) in individuals diagnosed with neural tube defects.
Nitish Kumar Singh, et al. Clinica chimica acta; international journal of clinical chemistry 2024 0 119856 - Neighborhood Deprivation and Neural Tube Defects.
Shannon Pruitt Evans et al. Epidemiology 2023 34(6) 774-785 - Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects.
Wang Fang, et al. Molecular genetics & genomic medicine 2023 0 e2150 - A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.
Ishida M, et al. Clinical genetics 2017 0 (4) 870-879 - Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches.
K Rebekah Prasoona, et al. Birth defects research 2017 0 (13) 1020-1029 - Digenic variants of planar cell polarity genes in human neural tube defect patients.
Wang Linlin, et al. Molecular genetics and metabolism 2018 0 (1) 94-100 - Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations.
Zhi Yunxiao, et al. Archives of gynecology and obstetrics 2022 0 - 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 19?bp deletion variant predisposes foetus 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
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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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