Associated Papers
NUAK2 Pathogenic Variants Are Definitively Associated with Neural Tube Defects in Humans: New Genotype-Phenotype Correlation and Review of the Literature.
Mastromoro G et al.
Diagnostics (basel, Switzerland), 2025
The VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndrome.
Cheng C et al.
Molecular Genetics & Genomic Medicine, 2021
Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.
Au KS et al.
Scientific Reports, 2021
InMeRF: prediction of pathogenicity of missense variants by individual modeling for each amino acid substitution.
Takeda JI et al.
Nar Genomics and Bioinformatics, 2020
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
James KN et al.
Npj Genomic Medicine, 2020
Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects.
Wang M et al.
Cells, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.
Merello E et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2015
Independent mutations at Arg181 and Arg274 of Vangl proteins that are associated with neural tube defects in humans decrease protein stability and impair membrane targeting.
Iliescu A et al.
Biochemistry, 2014
Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects.
Bartsch O et al.
Molecular Syndromology, 2012
Contribution of VANGL2 mutations to isolated neural tube defects.
Kibar Z et al.
Clinical Genetics, 2011
Transmembrane topology of mammalian planar cell polarity protein Vangl1.
Iliescu A et al.
Biochemistry, 2011
Molecular and cellular mechanisms underlying neural tube defects in the loop-tail mutant mouse.
Gravel M et al.
Biochemistry, 2010
Epidemiologic and genetic aspects of spina bifida and other neural tube defects.
Au KS et al.
Developmental Disabilities Research Reviews, 2010
Genetics of human neural tube defects.
Greene ND et al.
Human Molecular Genetics, 2009
Novel mutations in VANGL1 in neural tube defects.
Kibar Z et al.
Human Mutation, 2009
[Recent perspectives on the development of the central nervous system and the genetic background of neural tube defects].
Joó JG
Orvosi Hetilap, 2009
Syndromes, disorders and maternal risk factors associated with neural tube defects (VI).
Chen CP
Taiwanese Journal of Obstetrics & Gynecology, 2008
Genetic interaction between members of the Vangl family causes neural tube defects in mice.
Torban E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
Syndromes, disorders and maternal risk factors associated with neural tube defects (II).
Chen CP
Taiwanese Journal of Obstetrics & Gynecology, 2008
Mutations in VANGL1 associated with neural-tube defects.
Kibar Z et al.
The New England Journal of Medicine, 2007
VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish.
Reynolds A et al.
Mechanisms of Development, 0
Human neural tube defects: genetic causes and prevention.
De Marco P et al.
Biofactors (oxford, England), 0