Hirschsprung disease
Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in
5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric …
5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric …
Digenic inheritance in medical genetics
Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases.
By contrast with the thousands of reports that mutations in single genes cause human …
By contrast with the thousands of reports that mutations in single genes cause human …
Deriving human ENS lineages for cell therapy and drug discovery in Hirschsprung disease
The enteric nervous system (ENS) is the largest component of the autonomic nervous
system, with neuron numbers surpassing those present in the spinal cord. The ENS has …
system, with neuron numbers surpassing those present in the spinal cord. The ENS has …
[HTML][HTML] Analysis of early human neural crest development
The outstanding migration and differentiation capacities of neural crest cells (NCCs) have
fascinated scientists since Wilhelm His described this cell population in 1868. Today, after …
fascinated scientists since Wilhelm His described this cell population in 1868. Today, after …
The emerging genetic landscape of Hirschsprung disease and its potential clinical applications
Hirschsprung disease (HSCR) is the leading cause of neonatal functional intestinal
obstruction. It is a rare congenital disease with an incidence of one in 3,500–5,000 live …
obstruction. It is a rare congenital disease with an incidence of one in 3,500–5,000 live …
Hirschsprung's disease
Hirschsprung's disease (HSCR) is characterized by absence of the enteric nervous system
in a variable portion of the distal gut. Affected infants usually present in the days after birth …
in a variable portion of the distal gut. Affected infants usually present in the days after birth …
[HTML][HTML] Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model
Finding genes for complex diseases has been the goal of many genetic studies. Most of
these studies have been successful by searching for genes and mutations in rare familial …
these studies have been successful by searching for genes and mutations in rare familial …
DIDA: A curated and annotated digenic diseases database
DIDA (DIgenic diseases DAtabase) is a novel database that provides for the first time
detailed information on genes and associated genetic variants involved in digenic diseases …
detailed information on genes and associated genetic variants involved in digenic diseases …
Advances in paediatric gastroenterology
Recent developments in paediatric gastrointestinal surgery have focused on minimally
invasive surgery, the accumulation of high-quality clinical evidence, and scientific research …
invasive surgery, the accumulation of high-quality clinical evidence, and scientific research …
Hirschsprung disease—Bowel function beyond childhood
T Wester, AL Granström - Seminars in pediatric surgery, 2017 - Elsevier
Hirschsprung disease is a developmental defect of the enteric nervous system characterized
by lack of enteric neurons in the distal hindgut. There are numerous reports on short-term …
by lack of enteric neurons in the distal hindgut. There are numerous reports on short-term …