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Items: 1 to 20 of 194

1.
A family study of spina bifida and anencephalus in Belfast, Northern Ireland (1964 to 1968).
N C Nevin, W P Johnston
J Med Genet. 1980 Jun; 17(3): 203–211. doi: 10.1136/jmg.17.3.203
PMCID:
PMC1048548
SummaryPage BrowsePDF–1.0M
2.
WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways
Hailing Yin, Rui Peng, Zhongzhong Chen, Hongyan Wang, Ting Zhang, Yufang Zheng
J Hum Genet. 2020; 65(11): 985–993. Published online 2020 Jun 23. doi: 10.1038/s10038-020-0793-z
PMCID:
PMC7527273
AbstractArticlePDF–1.7M
3.
Congenital vertebral anomalies: aetiology and relationship to spina bifida cystica.
R Wynne-Davies
J Med Genet. 1975 Sep; 12(3): 280–288. doi: 10.1136/jmg.12.3.280
PMCID:
PMC1013290
SummaryPage BrowsePDF–1.8M
4.
Spinal dysraphism: genetic relation to neural tube malformations.
C O Carter, K A Evans, K Till
J Med Genet. 1976 Oct; 13(5): 343–350. doi: 10.1136/jmg.13.5.343
PMCID:
PMC1013437
SummaryPage BrowsePDF–815K
5.
Reduced H3K27me3 leads to abnormal Hox gene expression in neural tube defects
Juan Yu, Lei Wang, Pei Pei, Xue Li, Jianxin Wu, Zhiyong Qiu, Juan Zhang, Ruifang Ao, Shan Wang, Ting Zhang, Jun Xie
Epigenetics Chromatin. 2019; 12: 76. Published online 2019 Dec 19. doi: 10.1186/s13072-019-0318-1
PMCID:
PMC6921514
AbstractArticlePDF–4.3M
6.
Shifting genetic patterns in anencephaly and spina bifida.
D T Janerich, J Piper
J Med Genet. 1978 Apr; 15(2): 101–105. doi: 10.1136/jmg.15.2.101
PMCID:
PMC1013654
SummaryPage BrowsePDF–756K
7.
A family showing apparent X linked inheritance of both anencephaly and spina bifida.
O Jensson, A Arnason, H Gunnarsdottir, I Petursdottir, R Fossdal, S Hreidarsson
J Med Genet. 1988 Apr; 25(4): 227–229. doi: 10.1136/jmg.25.4.227
PMCID:
PMC1015501
SummaryPage BrowsePDF–342K
8.
Do familial neural tube defects breed true?
E Drainer, H M May, J L Tolmie
J Med Genet. 1991 Sep; 28(9): 605–608. doi: 10.1136/jmg.28.9.605
PMCID:
PMC1015790
SummaryPage BrowsePDF–497K
9.
Overview on Neural tube defects: from development to physical characteristics
Laura Avagliano, Valentina Massa, Timothy M. George, Sarah Qureshy, Gaetano Bulfamante, Richard H. Finnell
Birth Defects Res. Author manuscript; available in PMC 2020 Nov 15.
Published in final edited form as: Birth Defects Res. 2019 Nov 15; 111(19): 1455–1467. Published online 2018 Nov 12. doi: 10.1002/bdr2.1380
PMCID:
PMC6511489
AbstractArticlePDF–2.2M
10.
Abnormal level of CUL4B-mediated histone H2A ubiquitination causes disruptive HOX gene expression
Ye Lin, Juan Yu, Jianxin Wu, Shan Wang, Ting Zhang
Epigenetics Chromatin. 2019; 12: 22. Published online 2019 Apr 16. doi: 10.1186/s13072-019-0268-7
PMCID:
PMC6466687
AbstractArticlePDF–3.0M
11.
Polymorphism rs1052536 in Base Excision Repair Gene Is a Risk Factor in a High-Risk Area of Neural Tube Defects in China
Guannan Li, Xin Wang, Xiuwei Wang, Zhen Guan, Jin Guo, Fang Wang, Jianzhao Zhang, Bo Niu, Ting Zhang, Jianhua Wang, Jian Yang
Med Sci Monit. 2018; 24: 5015–5026. Published online 2018 Jul 19. doi: 10.12659/MSM.907492
PMCID:
PMC6067017
AbstractArticlePDF–1.5M
12.
Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q.
C A Brandt, J M Hertz, M B Petersen, F Vogel, H Noer, M Mikkelsen
J Med Genet. 1992 Oct; 29(10): 704–708. doi: 10.1136/jmg.29.10.704
PMCID:
PMC1016127
SummaryPage BrowsePDF–1.0M
13.
Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort
Zhongzhong Chen, Lele Kuang, Richard H. Finnell, Hongyan Wang
Hum Genet. Author manuscript; available in PMC 2018 Mar 30.
Published in final edited form as: Hum Genet. 2018 Mar; 137(3): 195–202. Published online 2018 Feb 8. doi: 10.1007/s00439-017-1864-x
PMCID:
PMC5876139
AbstractArticlePDF–536K
14.
Temporal and spatial requirements for Nodal-induced anterior mesendoderm and mesoderm in anterior neurulation
Ngawang Gonsar, Alicia Coughlin, Jessica A. Clay-Wright, Bethanie R. Borg, Lexy M. Kindt, Jennifer O. Liang
Genesis. Author manuscript; available in PMC 2017 Jul 18.
Published in final edited form as: Genesis. 2016 Jan; 54(1): 3–18. Published online 2016 Jan 12. doi: 10.1002/dvg.22908
PMCID:
PMC5515471
AbstractArticlePDF–2.4M
15.
Risk of recurrence after two children with central nervous system malformations in an area of high incidence.
N C Nevin, W P Johnston
J Med Genet. 1980 Apr; 17(2): 87–92. doi: 10.1136/jmg.17.2.87
PMCID:
PMC1048508
SummaryPage BrowsePDF–721K
16.
Concordance rates in twins for anencephaly.
W H James
J Med Genet. 1980 Apr; 17(2): 93–94. doi: 10.1136/jmg.17.2.93
PMCID:
PMC1048509
SummaryPage BrowsePDF–294K
17.
Disruption of the MacMARCKS gene prevents cranial neural tube closure and results in anencephaly.
J Chen, S Chang, S A Duncan, H J Okano, G Fishell, A Aderem
Proc Natl Acad Sci U S A. 1996 Jun 25; 93(13): 6275–6279. doi: 10.1073/pnas.93.13.6275
PMCID:
PMC39012
SummaryPage BrowsePDF–1.8M
18.
Differences between the events preceding spina bifida and anencephaly.
W H James
J Med Genet. 1981 Feb; 18(1): 17–21. doi: 10.1136/jmg.18.1.17
PMCID:
PMC1048651
SummaryPage BrowsePDF–747K
19.
Nutrition, One-Carbon Metabolism and Neural Tube Defects: A Review
Kelei Li, Mark L. Wahlqvist, Duo Li
Nutrients. 2016 Nov; 8(11): 741. Published online 2016 Nov 23. doi: 10.3390/nu8110741
PMCID:
PMC5133124
AbstractArticlePDF–674K
20.
Recurrence rates for neural tube defects and vitamin supplementation
William H James
J Med Genet. 1981 Aug; 18(4): 249–251. doi: 10.1136/jmg.18.4.249
PMCID:
PMC1048725
SummaryPage BrowsePDF–487K

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