Hirschsprung disease 1

02/01/2007 - "The host used in this study was the DOM/+ mouse, an animal model for Hirschsprung's disease (aganglionic megacolon). "
05/01/2013 - "Hirschsprung disease (HSCR, aganglionic megacolon) is a complex genetic disorder of the enteric nervous system (ENS) characterized by the absence of enteric neurons along a variable length of the intestine. "
01/01/2013 - "Hirschsprung's disease (HSCR), also known as aganglionic megacolon, derives from a congenital malformation of the enteric nervous system (ENS). "
11/01/2012 - "Recently, Hirschsprung disease (HSCR), or congenital aganglionic megacolon, has been seen more often among patients with DS. "
09/01/2012 - "Hirschsprung disease (HSCR, aganglionic megacolon) is a complex and heterogeneous disease with an incidence of 1 in 5000 live births. "

06/01/1956 - "The major portion of the postoperative mortality (29 per cent) in this group occurred in infants less than six months of age in whom anastomotic disruption or proximal segment infarction occurred after operation.A study of 31 cases of congenital aganglionic megacolon in very young infants drew attention to the difficulty of establishing a diagnosis in this age group even at exploratory laparotomy. "

01/14/1960 - "Similarities of mechanical intestinal obstruction and aganglionic megacolon in the newborn infant: a review of 64 cases."
01/01/2014 - "Mechanical intestinal obstruction, chronic intestinal pseudo-obstruction, malabsorption and congenital aganglionic megacolon were ruled out. "
01/01/2008 - "Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. "
11/01/2001 - "Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. "
03/01/1996 - "Hirschsprung disease (HSCR), or aganglionic megacolon, is the most common cause of congenital intestinal obstruction. "

04/01/2013 - "Failure in these processes and consequent abnormal ENS development can result in so-called enteric neuropathies, arguably the best characterized of which is the congenital disorder Hirschsprung disease (HSCR), or aganglionic megacolon. "
02/24/2009 - "Hirschsprung's disease (HSCR), or aganglionic megacolon, is a congenital disorder characterized by the absence of enteric ganglia in variable portions of the distal intestine. "
12/16/2007 - "Hirschsprung's disease (HD), or aganglionic megacolon, is a congenital disorder that is characterised by the absence of ganglion cells in the submucosal and myenteric plexuses of the intestine, which is caused by the failure of these cells to migrate from the neural crest (neurocristopathy). "
01/01/1995 - "A human congenital disorder, Hirschsprung disease (HSCR), is also characterized by aganglionic megacolon of the distal bowel and can be accompanied by hypopigmentation of the skin. "
05/01/2010 - "Mutations in SOX10 are associated with several neurocristopathies such as Waardenburg syndrome type IV (WS4), a congenital disorder characterized by the association of hearing loss, pigmentary abnormalities, and absence of ganglion cells in the myenteric and submucosal plexus of the gastrointestinal tract, also known as aganglionic megacolon or Hirschsprung disease (HSCR). "

01/01/1995 - "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. "
01/01/1994 - "As a result, mice carrying piebald mutations exhibit white spotting in the coat and aganglionic megacolon. "
12/01/1998 - "Mice and humans with a null mutation at either locus can show major deficiencies in both cell types: congenital white spotting and aganglionic megacolon (Hirschsprung disease in human). "
04/30/1996 - "Recently, targeted disruption of the endothelin-B (ETB) receptor gene (EDNRB) in the mouse has been reported to cause aganglionic megacolon and coat color spotting resembling the phenotypes of the sl/sl rats. "
12/30/1994 - "We report a targeted disruption of the mouse endothelin-B receptor (EDNRB) gene that results in aganglionic megacolon associated with coat color spotting, resembling a hereditary syndrome of mice, humans, and other mammalian species. "