180 related articles for article (PubMed ID: 25805808)
1. Loss-of-function de novo mutations play an important role in severe human neural tube defects.
Lemay P; Guyot MC; Tremblay É; Dionne-Laporte A; Spiegelman D; Henrion É; Diallo O; De Marco P; Merello E; Massicotte C; Désilets V; Michaud JL; Rouleau GA; Capra V; Kibar Z
J Med Genet; 2015 Jul; 52(7):493-7. PubMed ID: 25805808
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans.
Davidson CE; Li Q; Churchill GA; Osborne LR; McDermid HE
Physiol Genomics; 2007 Oct; 31(2):244-51. PubMed ID: 17623803
[TBL] [Abstract][Full Text] [Related]
4. Analysis of select folate pathway genes, PAX3, and human T in a Midwestern neural tube defect population.
Trembath D; Sherbondy AL; Vandyke DC; Shaw GM; Todoroff K; Lammer EJ; Finnell RH; Marker S; Lerner G; Murray JC
Teratology; 1999 May; 59(5):331-41. PubMed ID: 10332959
[TBL] [Abstract][Full Text] [Related]
5. Rare deleterious variants in GRHL3 are associated with human spina bifida.
Lemay P; De Marco P; Emond A; Spiegelman D; Dionne-Laporte A; Laurent S; Merello E; Accogli A; Rouleau GA; Capra V; Kibar Z
Hum Mutat; 2017 Jun; 38(6):716-724. PubMed ID: 28276201
[TBL] [Abstract][Full Text] [Related]
6. A novel
Singh AK; Viviano S; Allington G; McGee S; Kiziltug E; Mekbib KY; Shohfi JP; Duy PQ; DeSpenza T; Furey CG; Reeves BC; Smith H; Ma S; Sousa AMM; Cherskov A; Allocco A; Nelson-Williams C; Haider S; Rizvi SRA; Alper SL; Sestan N; Shimelis H; Walsh LK; Lifton RP; Moreno-De-Luca A; Jin SC; Kruszka P; Deniz E; Kahle KT
medRxiv; 2023 Mar; ():. PubMed ID: 36993720
[TBL] [Abstract][Full Text] [Related]
7. PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.
Hol FA; Geurds MP; Chatkupt S; Shugart YY; Balling R; Schrander-Stumpel CT; Johnson WG; Hamel BC; Mariman EC
J Med Genet; 1996 Aug; 33(8):655-60. PubMed ID: 8863157
[TBL] [Abstract][Full Text] [Related]
8. Mini-review: toward understanding mechanisms of genetic neural tube defects in mice.
Harris MJ; Juriloff DM
Teratology; 1999 Nov; 60(5):292-305. PubMed ID: 10525207
[TBL] [Abstract][Full Text] [Related]
9. Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects.
Lakkis MM; Golden JA; O'Shea KS; Epstein JA
Dev Biol; 1999 Aug; 212(1):80-92. PubMed ID: 10419687
[TBL] [Abstract][Full Text] [Related]
10. Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect.
Nye JS; Balkin N; Lucas H; Knepper PA; McLone DG; Charrow J
Am J Med Genet; 1998 Feb; 75(4):401-8. PubMed ID: 9482647
[TBL] [Abstract][Full Text] [Related]
11. Understanding the causes and prevention of neural tube defects: Insights from the splotch mouse model.
Greene ND; Massa V; Copp AJ
Birth Defects Res A Clin Mol Teratol; 2009 Apr; 85(4):322-30. PubMed ID: 19180568
[TBL] [Abstract][Full Text] [Related]
12. The folate metabolic enzyme ALDH1L1 is restricted to the midline of the early CNS, suggesting a role in human neural tube defects.
Anthony TE; Heintz N
J Comp Neurol; 2007 Jan; 500(2):368-83. PubMed ID: 17111379
[TBL] [Abstract][Full Text] [Related]
13. Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects.
Harris MJ; Juriloff DM
Birth Defects Res A Clin Mol Teratol; 2007 Mar; 79(3):187-210. PubMed ID: 17177317
[TBL] [Abstract][Full Text] [Related]
14. Genetic variants in GRHL3 and risk for neural tube defects: A case-control and case-parent triad/control study.
Yang W; Xiao Y; Tian T; Jin L; Wang L; Ren A
Birth Defects Res; 2019 Nov; 111(19):1468-1478. PubMed ID: 31332962
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Absence of linkage between familial neural tube defects and PAX3 gene.
Chatkupt S; Hol FA; Shugart YY; Geurds MP; Stenroos ES; Koenigsberger MR; Hamel BC; Johnson WG; Mariman EC
J Med Genet; 1995 Mar; 32(3):200-4. PubMed ID: 7783169
[TBL] [Abstract][Full Text] [Related]
18. [Study of teratogenicity of hyperglycemia on neural tube defects and antagonistic effect of taurine].
Mao DW; Zhao YP; Li SR; Che JH; Tan WH
Zhonghua Fu Chan Ke Za Zhi; 2004 Mar; 39(3):169-72. PubMed ID: 15130376
[TBL] [Abstract][Full Text] [Related]
19. Inositol- and folate-resistant neural tube defects in mice lacking the epithelial-specific factor Grhl-3.
Ting SB; Wilanowski T; Auden A; Hall M; Voss AK; Thomas T; Parekh V; Cunningham JM; Jane SM
Nat Med; 2003 Dec; 9(12):1513-9. PubMed ID: 14608380
[TBL] [Abstract][Full Text] [Related]
20. mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.
Li J; Jiang Y; Wang T; Chen H; Xie Q; Shao Q; Ran X; Xia K; Sun ZS; Wu J
J Med Genet; 2015 Apr; 52(4):275-81. PubMed ID: 25596308
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
