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Year Number of Results
1999 1
2005 2
2006 1
2008 1
2012 3
2013 1
2015 1
2017 1
2018 2
2019 1
2020 1
2024 0

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13 results

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Page 1
Hirschsprung disease: Insights on genes, penetrance, and prenatal diagnosis.
Wang XJ, Camilleri M. Wang XJ, et al. Neurogastroenterol Motil. 2019 Nov;31(11):e13732. doi: 10.1111/nmo.13732. Neurogastroenterol Motil. 2019. PMID: 31609069 Review.
A recent article in this journal documented potential gene variants involved in long-segment Hirschsprung disease in 23 patients. Gene variants were identified using a 31-gene panel of genes related to Hirschsprung disease or enteric neural crest cell …
A recent article in this journal documented potential gene variants involved in long-segment Hirschsprung disease in 23 patien …
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 …
Advances in understanding the association between Down syndrome and Hirschsprung disease (DS-HSCR).
Moore SW. Moore SW. Pediatr Surg Int. 2018 Nov;34(11):1127-1137. doi: 10.1007/s00383-018-4344-z. Epub 2018 Sep 14. Pediatr Surg Int. 2018. PMID: 30218169 Review.
The clinical association between Trisomy 21 (Down syndrome) and aganglionosis (Hirschsprung disease; DS-HSCR) is well-established, being of the order of 5% and remains the most common congenital association with Hirschsprung disease. ...The sum …
The clinical association between Trisomy 21 (Down syndrome) and aganglionosis (Hirschsprung disease; DS-HSCR) is well-establis …
Multiple endocrine neoplasia type 2B and Hirschsprung's disease.
Kapur RP. Kapur RP. Clin Gastroenterol Hepatol. 2005 May;3(5):423-31. doi: 10.1016/s1542-3565(04)00676-7. Clin Gastroenterol Hepatol. 2005. PMID: 15880310 Review.
Multiple endocrine neoplasia type 2B and Hirschsprung's disease are genetic disorders characterized by gross and/or microscopic pathology of the enteric nervous system and associated dysmotility. A specific missense mutation in the RET proto-oncogene is the etiology …
Multiple endocrine neoplasia type 2B and Hirschsprung's disease are genetic disorders characterized by gross and/or microscopi …
Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.
Moore SW, Zaahl MG. Moore SW, et al. Pediatr Surg Int. 2008 May;24(5):521-30. doi: 10.1007/s00383-008-2137-5. Epub 2008 Mar 26. Pediatr Surg Int. 2008. PMID: 18365214 Review.
The centrality of RET in the etiology of both MEN2 and HSCR is now well established with fairly consistent associations existing between RET genotype and phenotype in MEN2. The relationship between Hirschsprung's disease (HSCR) MEN2 syndromes appears to be a highly …
The centrality of RET in the etiology of both MEN2 and HSCR is now well established with fairly consistent associations existing between RET …
Hereditary Medullary Thyroid Cancer Genotype-Phenotype Correlation.
Frank-Raue K, Raue F. Frank-Raue K, et al. Recent Results Cancer Res. 2015;204:139-56. doi: 10.1007/978-3-319-22542-5_6. Recent Results Cancer Res. 2015. PMID: 26494387 Review.
Within MEN2A, there are four variants: (i) classical MEN2A, represented by the uniform presence of MTC and the less frequent occurrence of pheochromocytoma, or primary hyperparathyroidism, or both; (ii) MEN2A with cutaneous lichen amyloidosis; (iii) MEN2A with Hirschsprung …
Within MEN2A, there are four variants: (i) classical MEN2A, represented by the uniform presence of MTC and the less frequent occurrence of p …
Hirschsprung disease: a developmental disorder of the enteric nervous system.
McKeown SJ, Stamp L, Hao MM, Young HM. McKeown SJ, et al. Wiley Interdiscip Rev Dev Biol. 2013 Jan-Feb;2(1):113-29. doi: 10.1002/wdev.57. Epub 2012 Apr 24. Wiley Interdiscip Rev Dev Biol. 2013. PMID: 23799632 Review.
Hirschsprung disease (HSCR), which is also called congenital megacolon or intestinal aganglionosis, is characterized by an absence of enteric (intrinsic) neurons from variable lengths of the most distal bowel. ...HSCR is a multigenic disorder and has become a paradi …
Hirschsprung disease (HSCR), which is also called congenital megacolon or intestinal aganglionosis, is characterized by an abs …
Multiple endocrine neoplasias type 2B and RET proto-oncogene.
Martucciello G, Lerone M, Bricco L, Tonini GP, Lombardi L, Del Rossi CG, Bernasconi S. Martucciello G, et al. Ital J Pediatr. 2012 Mar 19;38:9. doi: 10.1186/1824-7288-38-9. Ital J Pediatr. 2012. PMID: 22429913 Free PMC article. Review.
Other RET mutations cause MEN 2A syndrome, familial medullary thyroid carcinoma, or Hirschsprung's disease. RET gene expression is also involved in Neuroblastoma. ...
Other RET mutations cause MEN 2A syndrome, familial medullary thyroid carcinoma, or Hirschsprung's disease. RET gene expressio …
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 …
Update on medications used to treat gastrointestinal disease in children.
Evans JS, Huffman S. Evans JS, et al. Curr Opin Pediatr. 1999 Oct;11(5):396-401. doi: 10.1097/00008480-199910000-00005. Curr Opin Pediatr. 1999. PMID: 10555590 Review.
Excellent pediatric-oriented reviews have been published that summarize our knowledge of proton pump inhibitors, probiotics, 5-hydroxtryptamine-3 (5-HT3) antagonists, and the treatment of gastrointestinal infections and chronic abdominal pain. ...Also described are …
Excellent pediatric-oriented reviews have been published that summarize our knowledge of proton pump inhibitors, probiotics, 5-hydrox …
13 results