Results 31 to 40 of about 9,343 (179)

1210 ACETYLCHOLINESTERASE (AChE) ASSAY FOR PRENATAL DIAGNOSIS OF NEURAL TUBE DEFECTS (NTDs) [PDF]

Pediatric Research, 1981
Amniotic fluid (AF) alpha-fetoprotein (AFP) assay has for some years been the most reliable test for the prenatal diagnosis of NTDs. Recently AChE assay has been proposed as either an alternative or adjunctive diagnostic tool. The non-specificity of AFP and the spurious results that occur with fetal blood contamination have spurred the search for a ...
Aubrey Milunsky, Victor S Sapirstein
openaire   +1 more source

Neural Tube Defects and Chromosome Deletions

Pediatric Neurology Briefs, 1996
Patients with neural tube defects (NTDs) complicated by congenital heart defects, facial anomalies, thymic hypoplasia, cleft lip or palate, or hypocalcemia and a family history of NTDs and other anomalies were tested for 22qll deletions at the ...
J Gordon Millichap
doaj   +1 more source

Gene Environment Interactions in the Etiology of Neural Tube Defects

Frontiers in Genetics, 2021
Human structural congenital malformations are the leading cause of infant mortality in the United States. Estimates from the United States Center for Disease Control and Prevention (CDC) determine that close to 3% of all United States newborns present ...
Richard H. Finnell, Richard H. Finnell, Carlo Donato Caiaffa, Sung-Eun Kim, Yunping Lei, John Steele, Xuanye Cao, Gabriel Tukeman, Ying Linda Lin, Robert M. Cabrera, Bogdan J. Wlodarczyk   +10 more
doaj   +1 more source

Prevalence of Neural Tube Defects (NTDs) In And Around Varanasi Region: Some Observations

, 2021
Abstract Congenital anomalies are one of the primary causes of infant mortality and disability in the world. Neural Tube Defects (NTDs) are the most typical type of birth defect resulting from the failure of Neural tube closure. In this retrospective hospital-based study, the data of the children affected byneural tube defects (NTDs) were ...
Vaibhav Pandey, Surendra Kumar Pandey, Praveen Kumar Tiwari, Pragati Shakya, Shashank Shekhar Jha, Ramkrishna Mishra, Pawan kumar Mishra, Govind Pandey, Kapil Malviya, Sheo Prasad Shukla, Devendra Mohan, Markandeya Tiwari   +11 more
openaire   +1 more source

ETERNAL SERUM ALPHA-FETOPROTEIN (AFP) SCREENING FOR NEURAL TUBE DEFECTS (NTDS) [PDF]

Pediatric Research, 1977
About 90% of NTDs occur without a history of an affected sibling or parent. From available data, routine screening of all 2nd trimester maternal sera has the potential of early prenatal detection of 60-80% of anencephaly and 30-50% of spina bifida. Me have done radioimmunoassays on 1608 maternal sera collected mainly from patients attending for routine
Aubrey Milunsky, Elliot Alpert, Frederic O Frigoletto   +2 more
openaire   +1 more source

A Novel Occulta-Type Spina Bifida Mediated by Murine Double Heterozygotes EphA2 and EphA4 Receptor Tyrosine Kinases

Frontiers in Cell and Developmental Biology, 2017
Members of the Eph receptor tyrosine kinase have previously been implicated in cranial neural tube development. Failure of neural tube closure leads to the devastating conditions known as anencephaly and spina bifida. EphA2 and EphA4 are expressed at the
Nor Linda Abdullah, Siti W. Mohd-Zin, Azlina Ahmad-Annuar, Noraishah M. Abdul-Aziz   +3 more
doaj   +1 more source

Posterior axis formation requires Dlx5/Dlx6 expression at the neural plate border.

PLoS ONE, 2019
Neural tube defects (NTDs), one of the most common birth defects in human, present a multifactorial etiology with a poorly defined genetic component. The Dlx5 and Dlx6 bigenic cluster encodes two evolutionary conserved homeodomain transcription factors ...
Nicolas Narboux-Neme, Marc Ekker, Giovanni Levi, Eglantine Heude   +3 more
doaj   +1 more source

Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects

Cells, 2019
Neural tube defects (NTDs), including spina bifida and anencephaly, represent the most severe and common malformations of the central nervous system affecting 0.7−3 per 1000 live births.
Mingqin Wang, Patrizia de Marco, Valeria Capra, Zoha Kibar   +3 more
doaj   +1 more source

Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs) [PDF]

European Journal of Human Genetics, 2002
Neural tube defects (NTD) are among the most common congenital malformations in humans. The current view is that there are no major genes causing NTDs, but combinations of sequence variants in different genes have additive effects on determining the malformation. Therefore it is important to identify such sequence variants to get a better understanding
Bärbel, Felder, Karolin, Stegmann, Almut, Schultealbert, Frank, Geller, Elisabeth, Strehl, August, Ermert, Manuela C, Koch   +6 more
openaire   +2 more sources

Folate-related gene variants in Irish families affected by neural tube defects

Frontiers in Genetics, 2013
Periconceptional folic acid use can often prevent neural tube defects (NTDs). Variants of genes involved in folate metabolism in mothers and children have been associated with occurrence of NTDs. We identified Irish families with individuals affected by
Ridgely eFisk Green, Julianne eByrne, Krista S. Crider, Margaret eGallagher, Deborah eKoontz, Robert J. Berry   +5 more
doaj   +1 more source