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1
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
Nat Genet. 2012 Sep;44(9):968-71. doi: 10.1038/ng.2360. Epub 2012 Aug 5.
2
Evaluating eight newly identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population.
Birth Defects Res A Clin Mol Teratol. 2014 Jan;100(1):43-7. doi: 10.1002/bdra.23209. Epub 2013 Dec 31.
3
Nonsyndromic cleft lip with or without cleft palate in arab populations: genetic analysis of 15 risk loci in a novel case-control sample recruited in Yemen.
Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):307-13. doi: 10.1002/bdra.23221. Epub 2014 Mar 13.
4
Analysis of susceptibility polymorphisms for nonsyndromic cleft lip with or without cleft palate in the Brazilian population.
Birth Defects Res A Clin Mol Teratol. 2014 Jan;100(1):36-42. doi: 10.1002/bdra.23204.
5
Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans.
Am J Med Genet A. 2015 May;167A(5):1054-1060. doi: 10.1002/ajmg.a.36912. Epub 2015 Mar 18.
6
Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample.
Am J Med Genet A. 2013 Oct;161A(10):2545-9. doi: 10.1002/ajmg.a.36141. Epub 2013 Aug 16.
7
Replication analysis of 15 susceptibility loci for nonsyndromic cleft lip with or without cleft palate in an italian population.
Birth Defects Res A Clin Mol Teratol. 2016 Feb;106(2):81-7. doi: 10.1002/bdra.23454. Epub 2015 Dec 9.
10
Association between NOGGIN and SPRY2 polymorphisms and nonsyndromic cleft lip with or without cleft palate.
Am J Med Genet A. 2015 Jan;167A(1):137-41. doi: 10.1002/ajmg.a.36802. Epub 2014 Oct 22.

引用本文的文献

1
Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.
Hum Mutat. 2025 Aug 28;2025:6824122. doi: 10.1155/humu/6824122. eCollection 2025.
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Identification of functional non-coding variants associated with orofacial cleft.
Nat Commun. 2025 Jul 16;16(1):6545. doi: 10.1038/s41467-025-61734-w.
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Structural insights into tRNA recognition of the human FTSJ1-THADA complex.
Commun Biol. 2025 Jun 7;8(1):893. doi: 10.1038/s42003-025-08278-3.
6
Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology.
medRxiv. 2025 Feb 12:2025.02.09.25321494. doi: 10.1101/2025.02.09.25321494.
7
Functional variant at 19q13.3 confers nonsyndromic cleft palate susceptibility by regulating .
iScience. 2025 Jan 16;28(2):111829. doi: 10.1016/j.isci.2025.111829. eCollection 2025 Feb 21.
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invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences.
Genes (Basel). 2024 Jul 12;15(7):910. doi: 10.3390/genes15070910.
10
Cleft lip Sidedness and the Association with Additional Congenital Malformations.
Cleft Palate Craniofac J. 2024 Jun 13:10556656241261918. doi: 10.1177/10556656241261918.

本文引用的文献

1
Breakthroughs in the genetics of orofacial clefting.
Trends Mol Med. 2011 Dec;17(12):725-33. doi: 10.1016/j.molmed.2011.07.007. Epub 2011 Aug 30.
2
Sprouty2 controls proliferation of palate mesenchymal cells via fibroblast growth factor signaling.
Biochem Biophys Res Commun. 2011 Jan 28;404(4):1076-82. doi: 10.1016/j.bbrc.2010.12.116. Epub 2010 Dec 30.
3
Conserved role of intragenic DNA methylation in regulating alternative promoters.
Nature. 2010 Jul 8;466(7303):253-7. doi: 10.1038/nature09165.
7
The genetics of isolated orofacial clefts: from genotypes to subphenotypes.
Oral Dis. 2009 Oct;15(7):437-53. doi: 10.1111/j.1601-0825.2009.01577.x. Epub 2009 Jul 2.
8
Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations.
Eur J Hum Genet. 2009 Jun;17(6):831-9. doi: 10.1038/ejhg.2008.250. Epub 2009 Jan 14.
9
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.
Nat Genet. 2008 Nov;40(11):1341-7. doi: 10.1038/ng.242. Epub 2008 Oct 5.
10
Cell-cell signaling via Eph receptors and ephrins.
Curr Opin Cell Biol. 2007 Oct;19(5):534-42. doi: 10.1016/j.ceb.2007.08.004. Epub 2007 Oct 24.

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