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Quoted phrase not found in phrase index: "Hirschsprung disease, susceptibility to, 4"
Page 1
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. ...In the case of intronic SNPs, rs2607420 with a high consensus value was predic …
Hirschsprung disease (HSCR) is a congenital and complex disorder characterized by intestinal obstruction due to the absence of …
Molecular genetics of Hirschsprung's disease.
Tam PK, Garcia-Barcelo M. Tam PK, et al. Semin Pediatr Surg. 2004 Nov;13(4):236-48. doi: 10.1053/j.sempedsurg.2004.10.011. Semin Pediatr Surg. 2004. PMID: 15660317 Review. No abstract available.
Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease.
Gunadi, Ryantono F, Sethi R, Marcellus, Kalim AS, Imelda P, Melati D, Simanjaya S, Widitjiarso W, Pitaka RT, Arfian N, Iskandar K, Makhmudi A, Lai PS. Gunadi, et al. J Int Med Res. 2021 Feb;49(2):300060520987789. doi: 10.1177/0300060520987789. J Int Med Res. 2021. PMID: 33557656 Free PMC article.
OBJECTIVE: Cluster genes, specifically the class 3 semaphorins (SEMA3) including SEMA3C, have been associated with the development of Hirschsprung disease (HSCR) in Caucasian populations. We aimed to screen for rare and common variants in SEMA3C in Indonesian patien …
OBJECTIVE: Cluster genes, specifically the class 3 semaphorins (SEMA3) including SEMA3C, have been associated with the development of Hir …
Distinctive genetic variation of long-segment Hirschsprung's disease in Taiwan.
Yang W, Chen SC, Lai JY, Ming YC, Chen JC, Chen PL. Yang W, et al. Neurogastroenterol Motil. 2019 Nov;31(11):e13665. doi: 10.1111/nmo.13665. Epub 2019 Jun 25. Neurogastroenterol Motil. 2019. PMID: 31240788
BACKGROUND: Hirschsprung's disease (HSCR) is a congenital disorder with the absence of myenteric and submucosal ganglion cells within distal gut. ...METHODS: Genomic DNA extracted from peripheral blood of L-HSCR patients was subjected to capture-based NGS, based on …
BACKGROUND: Hirschsprung's disease (HSCR) is a congenital disorder with the absence of myenteric and submucosal ganglion cells …
NRG1 variant effects in patients with Hirschsprung disease.
Gunadi, Budi NYP, Sethi R, Fauzi AR, Kalim AS, Indrawan T, Iskandar K, Makhmudi A, Adrianto I, San LP. Gunadi, et al. BMC Pediatr. 2018 Sep 4;18(1):292. doi: 10.1186/s12887-018-1265-x. BMC Pediatr. 2018. PMID: 30180823 Free PMC article.
BACKGROUND: Hirschsprung disease (HSCR) is a heterogeneous genetic disorder characterized by absence of ganglion cells along the intestines resulting in functional bowel obstruction. ...NRG1 gene analysis identified one rare variant, c.397G > C (p.V133 L), and th …
BACKGROUND: Hirschsprung disease (HSCR) is a heterogeneous genetic disorder characterized by absence of ganglion cells along t …
Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease.
Gunadi, Kapoor A, Ling AY, Rochadi, Makhmudi A, Herini ES, Sosa MX, Chatterjee S, Chakravarti A. Gunadi, et al. J Pediatr Surg. 2014 Nov;49(11):1614-8. doi: 10.1016/j.jpedsurg.2014.04.011. Epub 2014 Aug 28. J Pediatr Surg. 2014. PMID: 25475805 Free PMC article.
BACKGROUND: Hirschsprung disease (HSCR) is a neurocristopathy characterized by absence of intramural ganglion cells along variable lengths of the gastrointestinal tract in neonates. ...Two locus analyses of variants showed significant interactions with increased and …
BACKGROUND: Hirschsprung disease (HSCR) is a neurocristopathy characterized by absence of intramural ganglion cells along vari …
The contribution of associated congenital anomalies in understanding Hirschsprung's disease.
Moore SW. Moore SW. Pediatr Surg Int. 2006 Apr;22(4):305-15. doi: 10.1007/s00383-006-1655-2. Epub 2006 Mar 4. Pediatr Surg Int. 2006. PMID: 16518596 Review.
Hirschsprung's disease (HSCR) is a complex congenital disorder which, from a molecular perspective, appears to result due to disruption of normal signalling during development of enteric nerve cells, resulting in aganglionosis of the distal bowel. ...Whereas major R …
Hirschsprung's disease (HSCR) is a complex congenital disorder which, from a molecular perspective, appears to result due to d …
High Levels of Interest in Reproductive Genetic Information in Parents of Children and Adults With Hirschsprung Disease.
Berrios CD, Chakravarti A, Biesecker BB. Berrios CD, et al. J Pediatr Gastroenterol Nutr. 2019 Sep;69(3):299-305. doi: 10.1097/MPG.0000000000002392. J Pediatr Gastroenterol Nutr. 2019. PMID: 31107799 Free PMC article.
OBJECTIVES: Families affected by Hirschsprung disease (HSCR) have opportunities to learn recurrence risks to their children from statistical genetic and empiric studies and, in some cases, prenatal genetic testing or preimplantation genetic diagnosis (PGD). This stu …
OBJECTIVES: Families affected by Hirschsprung disease (HSCR) have opportunities to learn recurrence risks to their children fr …
A population-based description of familial clustering of Hirschsprung disease.
Teerlink CC, Bernhisel R, Cannon-Albright LA, Rollins MD. Teerlink CC, et al. J Pediatr Surg. 2018 Jul;53(7):1355-1359. doi: 10.1016/j.jpedsurg.2017.08.024. Epub 2017 Sep 1. J Pediatr Surg. 2018. PMID: 28919319
BACKGROUND: Familial recurrence of Hirschsprung disease (HSCR) is well documented, and risk estimates for relatives have been reported from various populations. ...CONCLUSION: This population-based survey of HSCR provides confirmation of a genetic contribution to HS …
BACKGROUND: Familial recurrence of Hirschsprung disease (HSCR) is well documented, and risk estimates for relatives have been …
Trends and Predictors of Clostridium difficile Infection among Children: A Canadian Population-Based Study.
El-Matary W, Nugent Z, Yu BN, Lix LM, Targownik LE, Bernstein CN, Singh H. El-Matary W, et al. J Pediatr. 2019 Mar;206:20-25. doi: 10.1016/j.jpeds.2018.10.041. Epub 2018 Nov 15. J Pediatr. 2019. PMID: 30448272

Comorbid conditions, more prevalent among children with CDI than matched controls, included Hirschsprung disease (P < .001) and inflammatory bowel disease (P < .0001). ...CONCLUSIONS: The incidence of CDI is stable among children in Manitoba. Children w

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Comorbid conditions, more prevalent among children with CDI than matched controls, included Hirschsprung disease (P < .001)

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19 results