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Page 1
The developmental genetics of Hirschsprung's disease.
Bergeron KF, Silversides DW, Pilon N. Bergeron KF, et al. Clin Genet. 2013 Jan;83(1):15-22. doi: 10.1111/cge.12032. Epub 2012 Nov 7. Clin Genet. 2013. PMID: 23043324
Hirschsprung's disease (HSCR), also known as aganglionic megacolon, derives from a congenital malformation of the enteric nervous system (ENS). ...Clinical signs include severe constipation and distended bowel due to a non-motile colon. If left untreated, agangli …
Hirschsprung's disease (HSCR), also known as aganglionic megacolon, derives from a congenital malformation of the enteric nerv …
Treatment of aganglionic megacolon mice via neural stem cell transplantation.
Shu X, Meng Q, Jin H, Chen J, Xiao Y, Ji J, Qin T, Wang G. Shu X, et al. Mol Neurobiol. 2013 Dec;48(3):429-37. doi: 10.1007/s12035-013-8430-x. Epub 2013 Mar 20. Mol Neurobiol. 2013. PMID: 23512482
To explore a potential methodology for treating aganglionic megacolon, neural stem cells (NSCs) expressing engineered endothelin receptor type B (EDNRB) and glial cell-derived neurotrophic factor (GDNF) genes were transplanted into the aganglionic megacolo …
To explore a potential methodology for treating aganglionic megacolon, neural stem cells (NSCs) expressing engineered endothel …
Diagnostic value of the preoperatively detected radiological transition zone in Hirschsprung's disease.
Chen X, Xiaojuan W, Zhang H, Jiao C, Yu K, Zhu T, Feng J. Chen X, et al. Pediatr Surg Int. 2017 May;33(5):581-586. doi: 10.1007/s00383-017-4064-9. Epub 2017 Feb 2. Pediatr Surg Int. 2017. PMID: 28154903
BACKGROUND AND OBJECTIVE: The cardinal diagnostic sign of congenital aganglionic megacolon, or Hirschsprung's disease (HD), is an aganglionic segment of the distal colon or rectum. ...CONCLUSION: A preoperatively determined radiological TZ has potential value to ide …
BACKGROUND AND OBJECTIVE: The cardinal diagnostic sign of congenital aganglionic megacolon, or Hirschsprung's disease (HD), is …
A genetic study of Hirschsprung disease.
Badner JA, Sieber WK, Garver KL, Chakravarti A. Badner JA, et al. Am J Hum Genet. 1990 Mar;46(3):568-80. Am J Hum Genet. 1990. PMID: 2309705 Free PMC article.
Hirschsprung disease, or congenital aganglionic megacolon, is commonly assumed to be a sex-modified multifactorial trait. ...A model of gene action with random effects during morphogenesis is compatible with our observations....
Hirschsprung disease, or congenital aganglionic megacolon, is commonly assumed to be a sex-modified multifactorial trait. ...A …
Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.
Edery P, Pelet A, Mulligan LM, Abel L, Attié T, Dow E, Bonneau D, David A, Flintoff W, Jan D, et al. Edery P, et al. J Med Genet. 1994 Aug;31(8):602-6. doi: 10.1136/jmg.31.8.602. J Med Genet. 1994. PMID: 7815416 Free PMC article.
Hirschsprung's disease (aganglionic megacolon, HSCR) is a frequent condition of unknown origin (1/5000 live births) resulting in intestinal obstruction in neonates and severe constipation in infants and adults. ...In both anatomical forms, tight pairwise linkage wit …
Hirschsprung's disease (aganglionic megacolon, HSCR) is a frequent condition of unknown origin (1/5000 live births) resulting …
Ichthyosis, deafness, and Hirschsprung's disease.
Mallory SB, Haynie LS, Williams ML, Hall W. Mallory SB, et al. Pediatr Dermatol. 1989 Mar;6(1):24-7. doi: 10.1111/j.1525-1470.1989.tb00262.x. Pediatr Dermatol. 1989. PMID: 2704659
No previous cases of ichthyosis have been associated with aganglionic megacolon. Although no corneal changes were observed, we believe that the clinical features of ichthyosis and deafness suggest the diagnosis of KID (keratitis, ichthyosis, deafness) syndrom …
No previous cases of ichthyosis have been associated with aganglionic megacolon. Although no corneal changes were observed …
A high-resolution linkage map of the lethal spotting locus: a mouse model for Hirschsprung disease.
Pavan WJ, Liddell RA, Wright A, Thibaudeau G, Matteson PG, McHugh KM, Siracusa LD. Pavan WJ, et al. Mamm Genome. 1995 Jan;6(1):1-7. doi: 10.1007/BF00350885. Mamm Genome. 1995. PMID: 7719019
Mice homozygous for the lethal spotting (ls) mutation exhibit aganglionic megacolon and a white spotted coat owing to a lack of neural crest-derived enteric ganglia and melanocytes. ...A human congenital disorder, Hirschsprung disease (HSCR), is also characterized b …
Mice homozygous for the lethal spotting (ls) mutation exhibit aganglionic megacolon and a white spotted coat owing to a lack o …
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.
Jannot AS, Amiel J, Pelet A, Lantieri F, Fernandez RM, Verheij JB, Garcia-Barcelo M, Arnold S, Ceccherini I, Borrego S, Hofstra RM, Tam PK, Munnich A, Chakravarti A, Clerget-Darpoux F, Lyonnet S. Jannot AS, et al. Eur J Hum Genet. 2012 Sep;20(9):917-20. doi: 10.1038/ejhg.2012.35. Epub 2012 Mar 7. Eur J Hum Genet. 2012. PMID: 22395866 Free PMC article.
Hirschsprung disease (HSCR, aganglionic megacolon) is a complex and heterogeneous disease with an incidence of 1 in 5000 live births. ...In the case of HSCR, we show a positive association between penetrance of the mutation and parental transmission asymmetry: no pa …
Hirschsprung disease (HSCR, aganglionic megacolon) is a complex and heterogeneous disease with an incidence of 1 in 5000 live …
Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease.
Owens SE, Broman KW, Wiltshire T, Elmore JB, Bradley KM, Smith JR, Southard-Smith EM. Owens SE, et al. Hum Mol Genet. 2005 Jun 1;14(11):1549-58. doi: 10.1093/hmg/ddi163. Epub 2005 Apr 20. Hum Mol Genet. 2005. PMID: 15843399
Sox10 mutant alleles in mice exhibit strain-dependent variation in penetrance and expressivity of aganglionic megacolon analogous to the variation observed in patients with aganglionosis. In this study, we focused on enteric ganglia deficits in Sox10Dom mice …
Sox10 mutant alleles in mice exhibit strain-dependent variation in penetrance and expressivity of aganglionic megacolon analog …
Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling.
Fuchs S, Amiel J, Claudel S, Lyonnet S, Corvol P, Pinet F. Fuchs S, et al. Mol Med. 2001 Feb;7(2):115-24. Mol Med. 2001. PMID: 11471546 Free PMC article.
BACKGROUND: Hirschsprung's disease (HSCR) is one the most common congenital intestinal disease. It leads to aganglionic megacolon in the early childhood. Several susceptibility genes have been identified : RET protooncogene and its ligand, glial cell derived neutrop …
BACKGROUND: Hirschsprung's disease (HSCR) is one the most common congenital intestinal disease. It leads to aganglionic megacolon …
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