Neural Tube Defects
Last Posted: Mar 30, 2023
- The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
Aafke Engwerda et al. Orphanet journal of rare diseases 2023 18(1) 59
- Folate Pathway Gene Single Nucleotide Polymorphisms and Neural Tube Defects: A Systematic Review and Meta-Analysis
AK Al Mekkawi et al, J Per Med, September 28, 2022
- Understanding Pregnancy Loss, Infertility, Birth Defects and the MTHFR gene: What Everyone Should Know
J Gunter, the Vajenda, March 27, 2021
- Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida
P Wolujewicz et al, Genetics in Medicine, March 8, 2021
- World Birth Defects Day, March 3, 2021
CDC, March 2021
- Guideline No. 410: Prevention, Screening, Diagnosis, and Pregnancy Management for Fetal Neural Tube Defects.
Wilson R Douglas et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2020 Nov
- Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test.
Kiani Aysha Karim et al. Acta bio-medica : Atenei Parmensis 2020 Nov 91(13-S) e2020021
- 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
- Genome-wide association studies of structural birth defects: A review and commentary.
Lupo Philip J et al. Birth defects research 2019 Oct
- Real Stories: Living with Spina Bifida
Neurological Disorders (ND) 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 neurological disorders....more
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