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Genetics ofHirschsprungdisease

Abstract Hirschsprungdisease (HSCR), or congenital intestinal aganglionosis, is a relatively common disorder of neural crest migration. It has a strong...

Stars: 39 Updated: February 21st,2018

White forelock, pigmentary disorder of irides, and long segment Hirschsprungdisease: Possible variant of Waardenburg syndrome

J Pediatr. 1981 Sep;99(3):432-5.

Stars: 163 Updated: February 21st,2018

A genetic study ofHirschsprungdisease.

Hirschsprungdisease, or congenital aganglionic megacolon, is commonly assumed to be a sex-modified multifactorial trait. To test this hypothesis, compl...

Stars: 49 Updated: February 21st,2018

Identification of Sox8 as a modifier gene in a mouse model ofHirschsprungdisease reveals underlying molecular defect.

Mice carrying heterozygous mutations in the Sox10 gene display aganglionosis of the colon and represent a model for human Hirschsprungdisease. Here, we...

Stars: 152 Updated: February 21st,2018

Fecal incontinence after the surgical treatment ofHirschsprungdisease

We examined 60 children 8.9 years (+/- 2.6 years) after surgical treatment ofHirschsprungdisease to determine the extent of fecal incontinence. Thirty...

Stars: 90 Updated: February 21st,2018

Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model ofHirschsprungdisease.

Hirschsprungdisease, or congenital megacolon, is characterized by aganglionosis of the terminal bowel, which leads to intestinal obstruction and chroni...

Stars: 135 Updated: February 21st,2018

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprungdisease with involvement of midline structures.

Hirschsprungdisease (HSCR) is a common malformation of neural-crest-derived enteric neurons that is frequently associated with other congenital abnorma...

Stars: 165 Updated: February 21st,2018

Mutations in SIP1, encoding Smad interacting protein-1, cause a form ofHirschsprungdisease

Abstract Hirschsprungdisease (HSCR) is sometimes associated with a set of characteristics including mental retardation, microcephaly, and distinct faci...

Stars: 117 Updated: February 21st,2018

[Mutations of the endothelin-3 gene in isolated and syndromic forms ofHirschsprungdisease]

Abstract AIMS AND METHODS: Hirschsprung's disease is a frequent congenital malformation regarded as a multigenic neurocristopathy. Three susceptibility ...

Stars: 117 Updated: February 21st,2018

Phenotype Variation in Two-Locus Mouse Models ofHirschsprungDisease: Tissue-Specific Interaction between Ret and Ednrb

Clinical expression ofHirschsprungdisease (HSCR) requires the interaction of multiple susceptibility genes. Molecular genetic analyses have revealed t...

Stars: 153 Updated: February 21st,2018

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