146 related articles for article (PubMed ID: 29205322)
41. Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations.
Zhi Y; Liu L; Cui S; Li Y; Chen X; Che J; Han X; Zhao L
Arch Gynecol Obstet; 2023 Dec; 308(6):1723-1735. PubMed ID: 36464758
[TBL] [Abstract][Full Text] [Related]
42. Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.
Zidoune H; Ladjouze A; Chellat-Rezgoune D; Boukri A; Dib SA; Nouri N; Tebibel M; Sifi K; Abadi N; Satta D; Benelmadani Y; Bignon-Topalovic J; El-Zaiat-Munsch M; Bashamboo A; McElreavey K
Front Genet; 2022; 13():900574. PubMed ID: 36110220
[TBL] [Abstract][Full Text] [Related]
43. Overview of Neural Tube Defects: Gene-Environment Interactions, Preventative Approaches and Future Perspectives.
Isaković J; Šimunić I; Jagečić D; Hribljan V; Mitrečić D
Biomedicines; 2022 Apr; 10(5):. PubMed ID: 35625701
[TBL] [Abstract][Full Text] [Related]
44. CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.
Li J; Lin SM; Qiao JD; Liu XR; Wang J; Jiang M; Zhang J; Zhong M; Chen XQ; Zhu J; He N; Su T; Shi YW; Yi YH; Liao WP;
CNS Neurosci Ther; 2022 Mar; 28(3):382-389. PubMed ID: 34951123
[TBL] [Abstract][Full Text] [Related]
45. Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.
Aguiar-Pulido V; Wolujewicz P; Martinez-Fundichely A; Elhaik E; Thareja G; Abdel Aleem A; Chalhoub N; Cuykendall T; Al-Zamer J; Lei Y; El-Bashir H; Musser JM; Al-Kaabi A; Shaw GM; Khurana E; Suhre K; Mason CE; Elemento O; Finnell RH; Ross ME
Proc Natl Acad Sci U S A; 2021 Dec; 118(51):. PubMed ID: 34916285
[TBL] [Abstract][Full Text] [Related]
46. Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.
Au KS; Hebert L; Hillman P; Baker C; Brown MR; Kim DK; Soldano K; Garrett M; Ashley-Koch A; Lee S; Gleeson J; Hixson JE; Morrison AC; Northrup H
Sci Rep; 2021 Feb; 11(1):3639. PubMed ID: 33574475
[TBL] [Abstract][Full Text] [Related]
47. The etiopathogenic and morphological spectrum of anencephaly: a comprehensive review of literature.
Munteanu O; Cîrstoiu MM; Filipoiu FM; Neamţu MN; Stavarache I; Georgescu TA; Bratu OG; Iorgulescu G; Bohîlţea RE
Rom J Morphol Embryol; 2020; 61(2):335-343. PubMed ID: 33544785
[TBL] [Abstract][Full Text] [Related]
48. Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients.
Hebert L; Hillman P; Baker C; Brown M; Ashley-Koch A; Hixson JE; Morrison AC; Northrup H; Au KS
PLoS One; 2020; 15(9):e0239083. PubMed ID: 32970752
[TBL] [Abstract][Full Text] [Related]
49. Hsp90 and complex birth defects: A plausible mechanism for the interaction of genes and environment.
Zohn IE
Neurosci Lett; 2020 Jan; 716():134680. PubMed ID: 31821846
[TBL] [Abstract][Full Text] [Related]
50. Impaired folate 1-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase-deficient mice.
Santos C; Pai YJ; Mahmood MR; Leung KY; Savery D; Waddington SN; Copp AJ; Greene N
J Clin Invest; 2020 Mar; 130(3):1446-1452. PubMed ID: 31794432
[TBL] [Abstract][Full Text] [Related]
51. A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.
Massadeh S; Umair M; Alaamery M; Alfadhel M
Front Neurol; 2019; 10():411. PubMed ID: 31068897
[No Abstract] [Full Text] [Related]
52. Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
Beaumont M; Akloul L; Carré W; Quélin C; Journel H; Pasquier L; Fradin M; Odent S; Hamdi-Rozé H; Watrin E; Dupé V; Dubourg C; David V
Hum Genet; 2019 Apr; 138(4):363-374. PubMed ID: 30838450
[TBL] [Abstract][Full Text] [Related]
53. Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.
De Castro SCP; Gustavsson P; Marshall AR; Gordon WM; Galea G; Nikolopoulou E; Savery D; Rolo A; Stanier P; Andersen B; Copp AJ; Greene NDE
Hum Mol Genet; 2018 Dec; 27(24):4218-4230. PubMed ID: 30189017
[TBL] [Abstract][Full Text] [Related]
54. Insights into the Etiology of Mammalian Neural Tube Closure Defects from Developmental, Genetic and Evolutionary Studies.
Juriloff DM; Harris MJ
J Dev Biol; 2018 Aug; 6(3):. PubMed ID: 30134561
[TBL] [Abstract][Full Text] [Related]
55. The impact of common genetic variants in the mitochondrial glycine cleavage system on relevant metabolites.
O'Reilly J; Pangilinan F; Hokamp K; Ueland PM; Brosnan JT; Brosnan ME; Brody LC; Molloy AM
Mol Genet Metab Rep; 2018 Sep; 16():20-22. PubMed ID: 29988937
[TBL] [Abstract][Full Text] [Related]
56. A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.
Ishida M; Cullup T; Boustred C; James C; Docker J; English C; ; Lench N; Copp AJ; Moore GE; Greene NDE; Stanier P
Clin Genet; 2018 Apr; 93(4):870-879. PubMed ID: 29205322
[TBL] [Abstract][Full Text] [Related]
57. Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort.
Chen Z; Kuang L; Finnell RH; Wang H
Hum Genet; 2018 Mar; 137(3):195-202. PubMed ID: 29423651
[TBL] [Abstract][Full Text] [Related]
58. Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes.
Zou J; Wang F; Yang X; Wang H; Niswander L; Zhang T; Li H
Neural Dev; 2020 Jul; 15(1):8. PubMed ID: 32650820
[TBL] [Abstract][Full Text] [Related]
59. A Shared Pathogenic Mechanism for Valproic Acid and
Takla TN; Luo J; Sudyk R; Huang J; Walker JC; Vora NL; Sexton JZ; Parent JM; Tidball AM
Cells; 2023 Jun; 12(13):. PubMed ID: 37443734
[TBL] [Abstract][Full Text] [Related]
60. Mouse as a model for multifactorial inheritance of neural tube defects.
Zohn IE
Birth Defects Res C Embryo Today; 2012 Jun; 96(2):193-205. PubMed ID: 22692891
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
