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Seminars in Colon & Rectal Surgery
Volume 17, Issue 1
, Pages 10-19
, March 2006
The History of Hirschsprung’s Disease: Then and Now
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- Immunohistochemical localization of RET protein in Hirschsprung’s disease . J Pediatr Surg . 1995;30:433–436
- Hirschsprung’s disease associated with a deletion of chromosome 10 (q11.2q21.2) a further link with the neurochrisopathies? . J Med Genet . 1994;31:325–327
- Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease . Hum Mol Genet . 1993;2:1803–1808
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- A mutation in endothelin-B receptor gene causes myenteric aganglionosis and coat color spotting in rats . DNA Res . 1996;3:101–105
- Transgenic expression of the endothelin-B receptor prevents congenital intestinal aganglionosis in a rat model of Hirschsprung disease . J Clin Invest . 1998;102:1092–1101
- Overo lethal white foal syndrome (equine model of aganglionic megacolon (Hirschsprung disease)) . Am J Med Genet . 1990;36:336–340
- A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal shile foal syndrome (LWFS); a horse variant of Hirschsprung disease . Hum Mol Genet . 1998;7:1047–1052
- . Transanal endorectal pull-through for Hirschsprung disease . J Pediatr Surg . 1998;33:1283–1286
- Transanal one-stage Soave procedure for infants with Hirschsprung disease . J Pediatr Surg . 1999;34:148–152
- One-stage transanal Soave pull-through for Hirschsprung disease (a multicenter experience with 141 children) . Ann Surg . 2003;238:569–583
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- SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung’s disease infants . Gut . 2001;49:220–226
- Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease . Nat Genet . 2001;27:369–370
- Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease . Hum Mol Genet . 2001;10:1503–1510
- Hirschsprung disease is linked to defects in neural crest stem cell function . Science . 2003;301:972–976
- . Pathogenesis of Hirschsprung’s disease and its variants (recent progress) . Semin Pediatr Surg . 2004;13:18–24
- Correlation between radiographic transition zone and level of aganglionosis in Hirschsprung’s disease (implications for surgical approach) . J Pediatr Surg . 2003;38:775–778
- . The versatility of the umbilical incision in the management of Hirschsprung’s disease . J Pediatr Surg . 2005;40:385–389
PII: S1043-1489(06)00016-9
doi: 10.1053/j.scrs.2006.02.003
© 2006 Elsevier Inc. All rights reserved.
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Seminars in Colon & Rectal Surgery
Volume 17, Issue 1
, Pages 10-19
, March 2006
