Myelomeningocele
What's New
Last Posted: Nov 02, 2023
- Mutational analysis of FOLR1 and FOLR2 genes in children with Myelomeningocele.
Nageen Hussain, et al. Acta biochimica Polonica 2023 0 - Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients.
Hebert Luke, et al. PloS one 2020 0 (9) e0239083 - Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks.
Hillman Paul, et al. Molecular genetics & genomic medicine 2020 0 (11) e1495 - Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.
Au K S, et al. Scientific reports 2021 2 (1) 3639 - Myelomeningocele genotype-phenotype correlation findings in cilia, HH, PCP, and WNT signaling pathways.
Ortiz-Cruz Gabriela, et al. Birth defects research 2021 1 - 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 - Mutations in folate transporter genes and risk for human myelomeningocele.
Findley Tina O, et al. American journal of medical genetics. Part A 2017 9 - Genetic association of the glycine cleavage system genes and myelomeningocele.
Shah Rita H, et al. Birth defects research. Part A, Clinical and molecular teratology 2016 9 - Maternal gene-micronutrient interactions related to one-carbon metabolism and the risk of myelomeningocele among offspring.
Nguyen Margaret P, et al. Birth defects research. Part A, Clinical and molecular teratology 2016 7 - Polymorphisms in maternal folate pathway genes interact with arsenic in drinking water to influence risk of myelomeningocele.
Mazumdar Maitreyi et al. Birth defects research. Part A, Clinical and molecular teratology 2015 Sep (9) 754-62 - [Methylenetetrahydrofolate reductase polymorphisms as risk factors for myelomeningocele].
Pardo Rosa, et al. Revista médica de Chile 2014 5 (5) 587-92 - Association of facilitated glucose transporter 2 gene variants with the myelomeningocele phenotype.
Ruggiero Jaclyn E, et al. Birth defects research. Part A, Clinical and molecular teratology 2015 6 (6) 479-87 - DNA methylation analysis of Homeobox genes implicates HOXB7 hypomethylation as risk factor for neural tube defects.
Rochtus Anne, et al. Epigenetics 2015 0 (1) 92-101 - Genetic variations in the GLUT3 gene associated with myelomeningocele.
Connealy Brendan D, et al. American journal of obstetrics and gynecology 2014 9 (3) 305.e1-8 - Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele.
Kase Benjamin A, et al. American journal of obstetrics and gynecology 2013 10 (4) 388.e1-7 - Family-based association study between SLC2A1, HK1, and LEPR polymorphisms with myelomeningocele in Chile.
Suazo José, et al. Reproductive sciences (Thousand Oaks, Calif.) 2013 10 (10) 1207-14 - Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients.
Spellicy Catherine J, et al. PloS one 2012 0 (12) e51330 - Association of copper-zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes with nonsyndromic myelomeningocele.
Kase Benjamin A, et al. Birth defects research. Part A, Clinical and molecular teratology 2012 10 (10) 762-9 - Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele.
Aneji Chiamaka N, et al. Birth defects research. Part A, Clinical and molecular teratology 2012 2 (2) 84-90 - Prevalence of cystathionine beta synthase gene mutation 852Ins68 as a possible risk for neural tube defects in eastern India.
Saxena A K, et al. Genetics and molecular research : GMR 2011 0 (4) 2424-9
More
About Rare Diseases PHGKB
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
- Page last updated:May 03, 2024
- Content source: