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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Reproductive and Child Health
Last data update: May 02, 2024
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Records 1 - 25 (of 25 Records)
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Neighborhood Deprivation and Neural Tube Defects.
Shannon Pruitt Evans et al. Epidemiology 2023 34(6) 774-785
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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
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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
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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
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Molecular Genetics involved in Neural Tube Defects: Recent Advances and Future Prospective for Molecular Medicine.
Mishra Pravash R et al. Neurology India 68(5) 1144-1150
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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
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Genome-wide association studies of structural birth defects: A review and commentary.
Lupo Philip J et al. Birth defects research 2019 Oct
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Real Stories: Living with Spina Bifida
CDC, 2019
Study reveals elevated cancer risk in children with birth defects,
EurekAlert, June 25, 2019
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
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Basics to Fundamentals on Spina Bifida: Resources for the Practicing Primary Care Clinician
April 16, 2019, 1:00 pm EST ~ American Academy of Pediatrics Webinar
Application of quality indicators to data from the National Network of Congenital Anomalies of Argentina.
Groisman Boris et al. Birth defects research 2019 Feb
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Prenatal screening for genetic disorders: Suggested guidelines for the Indian Scenario.
Phadke Shubha R et al. The Indian journal of medical research 2017 Dec 146(6) 689-699
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Informed Decision-Making in the Context of Prenatal Chromosomal Microarray.
Baker Jessica et al. Journal of genetic counseling 2018 Mar
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Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned.
Au Kit Sing et al. American journal of medical genetics. Part A 2017 Sep
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Genetic Risk Factors for Folate-Responsive Neural Tube Defects.
Molloy Anne M et al. Annual review of nutrition 2017 Aug 37269-291
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Folic Acid Supplementation for the Prevention of Neural Tube Defects: US Preventive Services Task Force Recommendation Statement.
et al. JAMA 2017 Jan 317(2) 183-189
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MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature.
Levin Brooke Levenseller et al. Journal of genetic counseling 2016 Apr
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Rates of prenatal screening across health care regions in Ontario, Canada: a retrospective cohort study.
Hayeems Robin Z et al. CMAJ Open 3(2) E236-43
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Committee Opinion No. 640: Cell-free DNA Screening for Fetal Aneuploidy.
Obstet Gynecol 2015 Jun 29.
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The use of a Toolkit for health needs assessment on neural tube defects in Argentina.
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 02, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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