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Quoted phrase not found in phrase index: "Hirschsprung disease, susceptibility to, 1"
Page 1
Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children.
Lan C, Wu Y, Wang N, Luo Y, Zhao J, Zheng Y, Zhang Y, Huang L, Zhu Y, Lu L, Zhong W, Zeng J, Xia H. Lan C, et al. J Cell Mol Med. 2021 Oct;25(20):9609-9616. doi: 10.1111/jcmm.16905. Epub 2021 Sep 20. J Cell Mol Med. 2021. PMID: 34545688 Free PMC article.
Hirschsprung disease (HSCR) is an infrequent congenital intestinal dysplasia. ...The results clarified that DOK6 rs12968648 G allele significantly increased HSCR susceptibility, in the allelic model (p = 0.034; OR = 1.12, 95%CI = 1.01~1.2 …
Hirschsprung disease (HSCR) is an infrequent congenital intestinal dysplasia. ...The results clarified that DOK6 rs12968648 G …
Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease.
Tilghman JM, Ling AY, Turner TN, Sosa MX, Krumm N, Chatterjee S, Kapoor A, Coe BP, Nguyen KH, Gupta N, Gabriel S, Eichler EE, Berrios C, Chakravarti A. Tilghman JM, et al. N Engl J Med. 2019 Apr 11;380(15):1421-1432. doi: 10.1056/NEJMoa1706594. N Engl J Med. 2019. PMID: 30970187 Free PMC article.
RESULTS: The presence of five or more variants in four noncoding elements defined a widespread risk of Hirschsprung's disease (48.4% of patients and 17.1% of controls; odds ratio, 4.54; 95% confidence interval [CI], 3.19 to 6.46). ...For individual patients, …
RESULTS: The presence of five or more variants in four noncoding elements defined a widespread risk of Hirschsprung's disease …
Molecular mechanisms of RET-induced Hirschsprung pathogenesis.
Lantieri F, Griseri P, Ceccherini I. Lantieri F, et al. Ann Med. 2006;38(1):11-9. doi: 10.1080/07853890500442758. Ann Med. 2006. PMID: 16448984 Review.
The RET proto-oncogene is the major gene involved in the pathogenesis of Hirschsprung (HSCR), a complex genetic disease characterized by lack of ganglia along variable lengths of the gut. ...Putative functional variants, in the promoter and in intron 1, and p …
The RET proto-oncogene is the major gene involved in the pathogenesis of Hirschsprung (HSCR), a complex genetic disease charac …
Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.
Moore SW, Zaahl MG. Moore SW, et al. Pediatr Surg Int. 2008 May;24(5):521-30. doi: 10.1007/s00383-008-2137-5. Epub 2008 Mar 26. Pediatr Surg Int. 2008. PMID: 18365214 Review.
The centrality of RET in the etiology of both MEN2 and HSCR is now well established with fairly consistent associations existing between RET genotype and phenotype in MEN2. The relationship between Hirschsprung's disease (HSCR) MEN2 syndromes appears to be a highly …
The centrality of RET in the etiology of both MEN2 and HSCR is now well established with fairly consistent associations existing between RET …
Correlation analysis of IL-11 polymorphisms and Hirschsprung disease subtype susceptibility in Southern Chinese Children.
Zhang H, Zhao JL, Zheng Y, Xie XL, Huang LH, Li L, Zhu Y, Lu LF, Hu TQ, Zhong W, He QM. Zhang H, et al. BMC Med Genomics. 2021 Jan 19;14(1):21. doi: 10.1186/s12920-020-00867-x. BMC Med Genomics. 2021. PMID: 33468134 Free PMC article.
BACKGROUND: Hirschsprung disease (HSCR) is a hereditary defect, which is characterized by the absence of enteric ganglia and is frequently concurrent with Hirschsprung-associated enterocolitis (HAEC). ...The results of both short-segment and long-segment (S-H …
BACKGROUND: Hirschsprung disease (HSCR) is a hereditary defect, which is characterized by the absence of enteric ganglia and i …
Effects of NRG1 Polymorphisms on Hirschsprung's Disease Susceptibility: A Meta-analysis.
Jiang M, Li C, Cao G, Yang D, Zhang X, Yang L, Li S, Tang ST. Jiang M, et al. Sci Rep. 2017 Aug 30;7(1):9913. doi: 10.1038/s41598-017-10477-w. Sci Rep. 2017. PMID: 28855726 Free PMC article.
Substantial resources have been devoted to evaluate the relationship between NRG1 variants rs7835688 and rs16879552 and Hirschsprung's Disease (HSCR) but no consistency exists. This meta-analysis aimed to assess the association between the two SNPs and HSCR. ...The …
Substantial resources have been devoted to evaluate the relationship between NRG1 variants rs7835688 and rs16879552 and Hirschsprung' …
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model.
Alves MM, Sribudiani Y, Brouwer RW, Amiel J, Antiñolo G, Borrego S, Ceccherini I, Chakravarti A, Fernández RM, Garcia-Barcelo MM, Griseri P, Lyonnet S, Tam PK, van Ijcken WF, Eggen BJ, te Meerman GJ, Hofstra RM. Alves MM, et al. Dev Biol. 2013 Oct 1;382(1):320-9. doi: 10.1016/j.ydbio.2013.05.019. Epub 2013 May 23. Dev Biol. 2013. PMID: 23707863 Free article. Review.
However, only a small fraction of the total genetic risk for these complex genetic diseases can be explained by the identified mutations and associated genetic loci. In this review we focus on Hirschsprung disease (HSCR) as an example of a complex genetic disorder. …
However, only a small fraction of the total genetic risk for these complex genetic diseases can be explained by the identified mutations and …
Potential association between ITPKC genetic variations and Hirschsprung disease.
Kim JH, Jung SM, Shin JG, Cheong HS, Seo JM, Kim DY, Oh JT, Kim HY, Jung K, Shin HD. Kim JH, et al. Mol Biol Rep. 2017 Jul;44(3):307-313. doi: 10.1007/s11033-017-4111-6. Epub 2017 Jun 29. Mol Biol Rep. 2017. PMID: 28664405
Hirschsprung disease (HSCR) is a congenital and complex disorder characterized by intestinal obstruction due to the absence of enteric neurons along variable lengths of the hindgut. ...Although this study has limitations (such as lack of functional evaluations, smal …
Hirschsprung disease (HSCR) is a congenital and complex disorder characterized by intestinal obstruction due to the absence of …
Clinical and genetic correlations of familial Hirschsprung's disease.
Moore SW, Zaahl M. Moore SW, et al. J Pediatr Surg. 2015 Feb;50(2):285-8. doi: 10.1016/j.jpedsurg.2014.11.016. Epub 2014 Nov 7. J Pediatr Surg. 2015. PMID: 25638620
BACKGROUND: The risk of familial transmission in Hirschsprung's disease (HSCR) currently lacks correlation between the clinical phenotype and the underlying genetic factors. ...DNA from 45 patients (35 kindreds) was screened for genetic variations of the RET, and ED …
BACKGROUND: The risk of familial transmission in Hirschsprung's disease (HSCR) currently lacks correlation between the clinica …
Associations between common genetic variants in microRNAs and Hirschsprung disease susceptibility in Southern Chinese children.
Wu Q, Zhao J, Zheng Y, Xie X, He Q, Zhu Y, Wang N, Huang L, Lu L, Hu T, Zeng J, Xia H, Zhang Y, Zhong W. Wu Q, et al. J Gene Med. 2021 Feb;23(2):e3301. doi: 10.1002/jgm.3301. Epub 2021 Jan 7. J Gene Med. 2021. PMID: 33294994 Free PMC article.
INTRODUCTION: Hirschsprung disease (HSCR), characterized by the defective migration of enteric neural crest cells, is a severe congenital tract disease in infants. ...Many studies focused on the polymorphisms of microRNA (miRNA) in several disease prog …
INTRODUCTION: Hirschsprung disease (HSCR), characterized by the defective migration of enteric neural crest cells, is a severe …
79 results