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Items: 1 to 20 of 66

1.

The maternal folate hydrolase gene polymorphism is associated with neural tube defects in a high-risk Chinese population.

Guo J, Xie H, Wang J, Zhao H, Wang F, Liu C, Wang L, Lu X, Bao Y, Zou J, Wang G, Niu B, Zhang T.

Genes Nutr. 2013 Mar;8(2):191-7. doi: 10.1007/s12263-012-0309-3. Epub 2012 Aug 24.

2.

Maternal PCMT1 gene polymorphisms and the risk of neural tube defects in a Chinese population of Lvliang high-risk area.

Zhao H, Wang F, Wang J, Xie H, Guo J, Liu C, Wang L, Lu X, Bao Y, Wang G, Zhong R, Niu B, Zhang T.

Gene. 2012 Sep 1;505(2):340-4. doi: 10.1016/j.gene.2012.05.035. Epub 2012 May 27.

PMID:
22647835
3.

Identification of novel rare mutations of DACT1 in human neural tube defects.

Shi Y, Ding Y, Lei YP, Yang XY, Xie GM, Wen J, Cai CQ, Li H, Chen Y, Zhang T, Wu BL, Jin L, Chen YG, Wang HY.

Hum Mutat. 2012 Oct;33(10):1450-5. doi: 10.1002/humu.22121. Epub 2012 Jun 19.

PMID:
22610794
4.

Association study of PARD3 gene polymorphisms with neural tube defects in a Chinese Han population.

Gao Y, Chen X, Shangguan S, Bao Y, Lu X, Zou J, Guo J, Dai Y, Zhang T.

Reprod Sci. 2012 Jul;19(7):764-71. doi: 10.1177/1933719111433886. Epub 2012 Mar 22.

PMID:
22447895
5.

Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.

Allache R, De Marco P, Merello E, Capra V, Kibar Z.

Birth Defects Res A Clin Mol Teratol. 2012 Mar;94(3):176-81. doi: 10.1002/bdra.23002. Epub 2012 Feb 28.

PMID:
22371354
6.

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.

Robinson A, Escuin S, Doudney K, Vekemans M, Stevenson RE, Greene ND, Copp AJ, Stanier P.

Hum Mutat. 2012 Feb;33(2):440-7. doi: 10.1002/humu.21662. Epub 2011 Dec 20.

7.

FZD6 is a novel gene for human neural tube defects.

De Marco P, Merello E, Rossi A, Piatelli G, Cama A, Kibar Z, Capra V.

Hum Mutat. 2012 Feb;33(2):384-90. doi: 10.1002/humu.21643. Epub 2011 Nov 28.

8.

Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.

Bosoi CM, Capra V, Allache R, Trinh VQ, De Marco P, Merello E, Drapeau P, Bassuk AG, Kibar Z.

Hum Mutat. 2011 Dec;32(12):1371-5. doi: 10.1002/humu.21589. Epub 2011 Sep 23.

9.

Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.

Seo JH, Zilber Y, Babayeva S, Liu J, Kyriakopoulos P, De Marco P, Merello E, Capra V, Gros P, Torban E.

Hum Mol Genet. 2011 Nov 15;20(22):4324-33. doi: 10.1093/hmg/ddr359. Epub 2011 Aug 12. Erratum in: Hum Mol Genet. 2015 Jul 1;24(13):3893.

PMID:
21840926
10.

Chromosomal abnormalities in fetuses with ultrasonographically detected neural tube defects.

Kanit H, Özkan AA, Öner SR, Ispahi C, Endrikat JS, Ertan K.

Clin Dysmorphol. 2011 Oct;20(4):190-3. doi: 10.1097/MCD.0b013e328348d99d.

PMID:
21709547
11.

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders.

Lee JE, Gleeson JG.

Curr Opin Neurol. 2011 Apr;24(2):98-105. doi: 10.1097/WCO.0b013e3283444d05. Review.

12.

Clinical utility gene card for: Meckel syndrome.

Salonen R, Kestilä M, Bergmann C.

Eur J Hum Genet. 2011 Jul;19(7). doi: 10.1038/ejhg.2010.255. Epub 2011 Feb 2. No abstract available.

13.

Association between a 45-bp 3'untranslated insertion/deletion polymorphism in exon 8 of UCP2 gene and neural tube defects in a high-risk area of China.

Wang J, Liu C, Zhao H, Wang F, Guo J, Xie H, Lu X, Bao Y, Pei L, Niu B, Zhong R, Zheng X, Zhang T.

Reprod Sci. 2011 Jun;18(6):556-60. doi: 10.1177/1933719110393026. Epub 2011 Jan 25.

PMID:
21266666
14.

Primary cilium-dependent and -independent Hedgehog signaling inhibits p16(INK4A).

Bishop CL, Bergin AM, Fessart D, Borgdorff V, Hatzimasoura E, Garbe JC, Stampfer MR, Koh J, Beach DH.

Mol Cell. 2010 Nov 24;40(4):533-47. doi: 10.1016/j.molcel.2010.10.027.

15.

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermüller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nürnberg G, Nürnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F.

Nat Genet. 2010 Oct;42(10):840-50. doi: 10.1038/ng.662. Epub 2010 Sep 12.

16.

Contribution of VANGL2 mutations to isolated neural tube defects.

Kibar Z, Salem S, Bosoi CM, Pauwels E, De Marco P, Merello E, Bassuk AG, Capra V, Gros P.

Clin Genet. 2011 Jul;80(1):76-82. doi: 10.1111/j.1399-0004.2010.01515.x. Epub 2010 Jul 22.

17.

Global DNA hypomethylation is associated with NTD-affected pregnancy: A case-control study.

Chen X, Guo J, Lei Y, Zou J, Lu X, Bao Y, Wu L, Wu J, Zheng X, Shen Y, Wu BL, Zhang T.

Birth Defects Res A Clin Mol Teratol. 2010 Jul;88(7):575-81. doi: 10.1002/bdra.20670.

PMID:
20641100
18.

VANGL2 mutations in human cranial neural-tube defects.

Lei YP, Zhang T, Li H, Wu BL, Jin L, Wang HY.

N Engl J Med. 2010 Jun 10;362(23):2232-5. doi: 10.1056/NEJMc0910820. No abstract available.

19.

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.

Park H, Kim JI, Ju YS, Gokcumen O, Mills RE, Kim S, Lee S, Suh D, Hong D, Kang HP, Yoo YJ, Shin JY, Kim HJ, Yavartanoo M, Chang YW, Ha JS, Chong W, Hwang GR, Darvishi K, Kim H, Yang SJ, Yang KS, Kim H, Hurles ME, Scherer SW, Carter NP, Tyler-Smith C, Lee C, Seo JS.

Nat Genet. 2010 May;42(5):400-5. doi: 10.1038/ng.555. Epub 2010 Apr 4.

20.

The polarity protein Pard3 is required for centrosome positioning during neurulation.

Hong E, Jayachandran P, Brewster R.

Dev Biol. 2010 May 15;341(2):335-45. doi: 10.1016/j.ydbio.2010.01.034. Epub 2010 Feb 6.

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