Subject Areas on Research
- A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.
- A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
- A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.
- Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome.
- Genomic structure of the gene for the SH2 and pleckstrin homology domain-containing protein GRB10 and evaluation of its role in Hirschsprung disease.
- Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.
- Hirschsprung's disease in an infant with colonic atresia and normal fixation of the distal colon.
- Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility.
- Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.
- Maternal microchimerism in Hirschsprung's disease.
- Motility disorders of the gastrointestinal tract.
- Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.
- Natural history of pediatric intestinal failure: initial report from the Pediatric Intestinal Failure Consortium.
- Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13.
- Segregation at three loci explains familial and population risk in Hirschsprung disease.
- The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome.
- When a Surgical Colleague Makes an Error.