Results 161 to 170 of about 27,701 (252)
Epidemiology and determinant factors of neural tube defect: Narrative review. [PDF]
Surg Neurol Int, 2020 Endalifer ML, Diress G.
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
The concept of folic acid supplementation and its role in prevention of neural tube defect among pregnant women: PRISMA. [PDF]
Medicine (Baltimore)Seyoum Tola F.
europepmc +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Prevention of neural tube defects [PDF]
Teratology, 1997 J, Mulinare, J D, Erickson
openaire +2 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Relative Prevalence and Outcome of Fetal Neural Tube Defect in a Developing Country. [PDF]
J Obstet Gynaecol India, 2020 Kumar M +4 more
europepmc +1 more source
Knowledge, attitude and practice of physicians regarding periconceptional folic acid for women at low risk of a neural tube defect affected pregnancy. [PDF]
Prev Med Rep, 2021 Mida LA +2 more
europepmc +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source