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Items: 1 to 20 of 127

1.

Digenic variants of planar cell polarity genes in human neural tube defect patients.

Wang L, Xiao Y, Tian T, Jin L, Lei Y, Finnell RH, Ren A.

Mol Genet Metab. 2018 May;124(1):94-100. doi: 10.1016/j.ymgme.2018.03.005. Epub 2018 Mar 18.

2.

Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.

Merello E, Mascelli S, Raso A, Piatelli G, Consales A, Cama A, Kibar Z, Capra V, Marco PD.

Birth Defects Res A Clin Mol Teratol. 2015 Jan;103(1):51-61. doi: 10.1002/bdra.23305. Epub 2014 Sep 10.

PMID:
25208524
3.

Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice.

Murdoch JN, Damrau C, Paudyal A, Bogani D, Wells S, Greene ND, Stanier P, Copp AJ.

Dis Model Mech. 2014 Oct;7(10):1153-63. doi: 10.1242/dmm.016758. Epub 2014 Aug 15.

4.

Genetic analysis of Wnt/PCP genes in neural tube defects.

Chen Z, Lei Y, Cao X, Zheng Y, Wang F, Bao Y, Peng R, Finnell RH, Zhang T, Wang H.

BMC Med Genomics. 2018 Apr 4;11(1):38. doi: 10.1186/s12920-018-0355-9.

5.

A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects.

Juriloff DM, Harris MJ.

Birth Defects Res A Clin Mol Teratol. 2012 Oct;94(10):824-40. doi: 10.1002/bdra.23079. Epub 2012 Sep 28. Review.

PMID:
23024041
6.

Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans.

Wang M, De Marco P, Merello E, Drapeau P, Capra V, Kibar Z.

Birth Defects Res A Clin Mol Teratol. 2015 Dec;103(12):1021-7. doi: 10.1002/bdra.23422. Epub 2015 Sep 14.

PMID:
26368655
7.

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.

8.

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
9.

Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects.

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

J Mol Neurosci. 2013 Mar;49(3):582-8. doi: 10.1007/s12031-012-9871-9. Epub 2012 Aug 15.

10.

Variants identified in PTK7 associated with neural tube defects.

Lei Y, Kim SE, Chen Z, Cao X, Zhu H, Yang W, Shaw GM, Zheng Y, Zhang T, Wang HY, Finnell RH.

Mol Genet Genomic Med. 2019 Apr;7(4):e00584. doi: 10.1002/mgg3.584. Epub 2019 Jan 28.

11.

Mutations in planar cell polarity gene SCRIB are associated with spina bifida.

Lei Y, Zhu H, Duhon C, Yang W, Ross ME, Shaw GM, Finnell RH.

PLoS One. 2013 Jul 26;8(7):e69262. doi: 10.1371/journal.pone.0069262. Print 2013.

12.

Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization.

Kharfallah F, Guyot MC, El Hassan AR, Allache R, Merello E, De Marco P, Di Cristo G, Capra V, Kibar Z.

Hum Mol Genet. 2017 Jun 15;26(12):2307-2320. doi: 10.1093/hmg/ddx122.

PMID:
28369449
13.

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.

14.

Identification of novel CELSR1 mutations in spina bifida.

Lei Y, Zhu H, Yang W, Ross ME, Shaw GM, Finnell RH.

PLoS One. 2014 Mar 14;9(3):e92207. doi: 10.1371/journal.pone.0092207. eCollection 2014.

15.

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. doi: 10.1007/s00439-017-1864-x. Epub 2018 Feb 8.

16.

Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population.

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

Birth Defects Res A Clin Mol Teratol. 2014 Aug;100(8):633-41. doi: 10.1002/bdra.23255. Epub 2014 May 17. Review.

PMID:
24838524
17.

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; GOSgene, Lench N, Copp AJ, Moore GE, Greene NDE, Stanier P.

Clin Genet. 2018 Apr;93(4):870-879. doi: 10.1111/cge.13189. Epub 2018 Feb 11.

18.

Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway.

Allache R, Lachance S, Guyot MC, De Marco P, Merello E, Justice MJ, Capra V, Kibar Z.

Hum Mol Genet. 2014 Apr 1;23(7):1687-99. doi: 10.1093/hmg/ddt558. Epub 2013 Nov 7. Erratum in: Hum Mol Genet. 2014 Aug 1;23(15):4185.

19.

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
20.

Human neural tube defects: genetic causes and prevention.

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

Biofactors. 2011 Jul-Aug;37(4):261-8. doi: 10.1002/biof.170. Epub 2011 Jun 14. Review.

PMID:
21674647

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