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Page 1
Neurological Phenotype of Mowat-Wilson Syndrome.
Cordelli DM, Di Pisa V, Fetta A, Garavelli L, Maltoni L, Soliani L, Ricci E. Cordelli DM, et al. Genes (Basel). 2021 Jun 27;12(7):982. doi: 10.3390/genes12070982. Genes (Basel). 2021. PMID: 34199024 Free PMC article. Review.
Inflammatory bowel disease in patients with Hirschsprung's disease: a systematic review and meta-analysis.
Nakamura H, Lim T, Puri P. Nakamura H, et al. Pediatr Surg Int. 2018 Feb;34(2):149-154. doi: 10.1007/s00383-017-4182-4. Epub 2017 Oct 5. Pediatr Surg Int. 2018. PMID: 28983688 Review.
AIM AND OBJECTIVES: Hirschsprung-associated enterocolitis (HAEC) continues to be an important cause of morbidity in patients with Hirschsprung's disease (HSCR). ...MATERIALS AND METHODS: A systematic literature search for relevant articles was performed in fo …
AIM AND OBJECTIVES: Hirschsprung-associated enterocolitis (HAEC) continues to be an important cause of morbidity in patients with …
Genetic basis of Hirschsprung's disease.
Tam PK, Garcia-Barceló M. Tam PK, et al. Pediatr Surg Int. 2009 Jul;25(7):543-58. doi: 10.1007/s00383-009-2402-2. Epub 2009 Jun 12. Pediatr Surg Int. 2009. PMID: 19521704 Review.
Hirschsprung's disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the lower digestive tract. ...This review will focus on the genes known to be involved in HSCR pathology, how they interact, and on how technology advances ar …
Hirschsprung's disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the lower digestiv …
Hirschsprung's disease: genetic and functional associations of Down's and Waardenburg syndromes.
Moore SW, Johnson AG. Moore SW, et al. Semin Pediatr Surg. 1998 Aug;7(3):156-61. doi: 10.1016/s1055-8586(98)70011-3. Semin Pediatr Surg. 1998. PMID: 9718653 Review.
Despite significant advances in understanding the genetic background in Hirschsprung's disease (HD), the majority of cases are believed to be multigenic and multifactorial. ...Mutations of known genes appear to account for only a relatively small number of HD cases …
Despite significant advances in understanding the genetic background in Hirschsprung's disease (HD), the majority of cases are …
Genetic impact on the treatment & management of Hirschsprung disease.
Moore SW. Moore SW. J Pediatr Surg. 2017 Feb;52(2):218-222. doi: 10.1016/j.jpedsurg.2016.11.012. Epub 2016 Nov 13. J Pediatr Surg. 2017. PMID: 28003043 Review.
BACKGROUND: The identification of Hirschsprung's disease (HD) as a genetic condition has been a major step forward in understanding the development of the enteric nervous system and conditions arising from ganglion cell maldevelopment. METHOD: A study of the role of …
BACKGROUND: The identification of Hirschsprung's disease (HD) as a genetic condition has been a major step forward in understa …
Hirschsprung's disease: a search for etiology.
Puri P, Ohshiro K, Wester T. Puri P, et al. Semin Pediatr Surg. 1998 Aug;7(3):140-7. doi: 10.1016/s1055-8586(98)70009-5. Semin Pediatr Surg. 1998. PMID: 9718651 Review.
In 1967, Okamoto et al suggested that the absence of ganglion cells in Hirschsprung's disease (HD) was attributable to failure of migration of neural crest cells. ...Recent expansion of molecular genetics identified multiple susceptibility genes of HD, includ …
In 1967, Okamoto et al suggested that the absence of ganglion cells in Hirschsprung's disease (HD) was attributable to failure …
Genetic aspects of Hirschsprung's disease.
Kusafuka T, Puri P. Kusafuka T, et al. Semin Pediatr Surg. 1998 Aug;7(3):148-55. doi: 10.1016/s1055-8586(98)70010-1. Semin Pediatr Surg. 1998. PMID: 9718652 Review.
Hirschsprung's disease (HD) is a relatively common cause of intestinal obstruction in the newborn, characterized by the absence of autonomic ganglion cells in the terminal bowel. ...Recent expansion of molecular genetics has identified multiple susceptibility …
Hirschsprung's disease (HD) is a relatively common cause of intestinal obstruction in the newborn, characterized by the absenc …
RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.
Quedas EP, Longuini VC, Sekiya T, Coutinho FL, Toledo SP, Tannuri U, Toledo RA. Quedas EP, et al. Clinics (Sao Paulo). 2012;67 Suppl 1(Suppl 1):57-61. doi: 10.6061/clinics/2012(sup01)11. Clinics (Sao Paulo). 2012. PMID: 22584707 Free PMC article. Review.
The rearranged during transfection (RET) proto-oncogene is the major susceptibility gene for Hirschsprung disease, and germline mutations in RET have been reported in up to 50% of the inherited forms of Hirschsprung disease and in 15-20% of spor …
The rearranged during transfection (RET) proto-oncogene is the major susceptibility gene for Hirschsprung disease, and …