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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 2
1998 1
1999 1
2001 1
2004 1
2005 1
2006 1
2008 2
2012 2
2013 3
2015 1
2016 1
2019 1
2020 1
2021 1
2024 0

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17 results

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Page 1
Hirschsprung's disease: A bridge for science and surgery.
Tam PK. Tam PK. J Pediatr Surg. 2016 Jan;51(1):18-22. doi: 10.1016/j.jpedsurg.2015.10.021. Epub 2015 Oct 21. J Pediatr Surg. 2016. PMID: 26611330 Review.
BACKGROUND/PURPOSE: Understanding the true nature of the disease provided the basis for appropriate surgery for Hirschsprung's disease some 60 years ago. ...RESULTS: Studies of human fetal gut and aganglionic gut gave insight into the complexity of the human …
BACKGROUND/PURPOSE: Understanding the true nature of the disease provided the basis for appropriate surgery for Hirschsprung's …
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 …
Roles of Enteric Neural Stem Cell Niche and Enteric Nervous System Development in Hirschsprung Disease.
Ji Y, Tam PK, Tang CS. Ji Y, et al. Int J Mol Sci. 2021 Sep 7;22(18):9659. doi: 10.3390/ijms22189659. Int J Mol Sci. 2021. PMID: 34575824 Free PMC article. Review.
Genetic defects dysregulating the cellular behaviour(s) of the ENCCs result in incomplete innervation and hence ENS dysfunction. Hirschsprung disease (HSCR) is a rare complex neurocristopathy in which the enteric neural crest-derived cells fail to colonize the dista …
Genetic defects dysregulating the cellular behaviour(s) of the ENCCs result in incomplete innervation and hence ENS dysfunction. Hirschsp
Hirschsprung's disease as a model of complex genetic etiology.
Borrego S, Ruiz-Ferrer M, Fernández RM, Antiñolo G. Borrego S, et al. Histol Histopathol. 2013 Sep;28(9):1117-36. doi: 10.14670/HH-28.1117. Epub 2013 Apr 19. Histol Histopathol. 2013. PMID: 23605783 Review.
Hirschsprung disease (HSCR), or aganglionic megacolon, is a developmental disorder characterised by the absence of ganglion cells along variable length of the distal gastrointestinal tract, leading to the most common form of functional intestinal obstruction in neon
Hirschsprung disease (HSCR), or aganglionic megacolon, is a developmental disorder characterised by the absence of ganglion ce
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 …
Pathogenesis of Hirschsprung's disease and its variants: recent progress.
Puri P, Shinkai T. Puri P, et al. Semin Pediatr Surg. 2004 Feb;13(1):18-24. doi: 10.1053/j.sempedsurg.2003.09.004. Semin Pediatr Surg. 2004. PMID: 14765367 Review.
Molecular-genetic analysis has identified several genes that have a role in the development of Hirschsprung's disease. The major susceptibility gene is RET, which is also involved in multiple endocrine neoplasia type 2. ...
Molecular-genetic analysis has identified several genes that have a role in the development of Hirschsprung's disease. The maj …
Causative and common PHOX2B variants define a broad phenotypic spectrum.
Bachetti T, Ceccherini I. Bachetti T, et al. Clin Genet. 2020 Jan;97(1):103-113. doi: 10.1111/cge.13633. Epub 2019 Aug 30. Clin Genet. 2020. PMID: 31444792 Review.
While PARMs are nearly exclusively associated with isolated CCHS, most of NPARMs is detected in syndromic CCHS, presenting with neuroblastoma and/or Hirschsprung disease. More recently, evidence of a complex role of PHOX2B in the pathogenesis of a wider spectrum of …
While PARMs are nearly exclusively associated with isolated CCHS, most of NPARMs is detected in syndromic CCHS, presenting with neuroblastom …
Hirschsprung disease: a developmental disorder of the enteric nervous system.
McKeown SJ, Stamp L, Hao MM, Young HM. McKeown SJ, et al. Wiley Interdiscip Rev Dev Biol. 2013 Jan-Feb;2(1):113-29. doi: 10.1002/wdev.57. Epub 2012 Apr 24. Wiley Interdiscip Rev Dev Biol. 2013. PMID: 23799632 Review.
Hirschsprung disease (HSCR), which is also called congenital megacolon or intestinal aganglionosis, is characterized by an absence of enteric (intrinsic) neurons from variable lengths of the most distal bowel. ...HSCR is a multigenic disorder and has become a paradi
Hirschsprung disease (HSCR), which is also called congenital megacolon or intestinal aganglionosis, is characterized by an abs
Hirschsprung's disease, one of the most difficult diagnoses in pediatric surgery: a review of the problems from clinical practice to the bench.
Martucciello G. Martucciello G. Eur J Pediatr Surg. 2008 Jun;18(3):140-9. doi: 10.1055/s-2008-1038625. Eur J Pediatr Surg. 2008. PMID: 18493886 Review.
PURPOSE: The diagnosis of Hirschsprung's disease (HSCR) should take place early in the neonatal period, because without an effective diagnosis and appropriate treatment, a considerable proportion of infants will go on to develop serious complications such as acute e …
PURPOSE: The diagnosis of Hirschsprung's disease (HSCR) should take place early in the neonatal period, because without an eff …
Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder.
Brooks AS, Oostra BA, Hofstra RM. Brooks AS, et al. Clin Genet. 2005 Jan;67(1):6-14. doi: 10.1111/j.1399-0004.2004.00319.x. Clin Genet. 2005. PMID: 15617541 Review.
Genetic dissection was successful as nine genes and four loci for Hirschsprung's disease susceptibility were identified. Different approaches were used to find these loci such as classical linkage in large families, identity by descent mapping in an inbred ki …
Genetic dissection was successful as nine genes and four loci for Hirschsprung's disease susceptibility were identified …
17 results