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Quoted phrase not found in phrase index: "Hirschsprung disease, susceptibility to, 2"
Page 1
Hirschsprung's disease.
Kenny SE, Tam PK, Garcia-Barcelo M. Kenny SE, et al. Semin Pediatr Surg. 2010 Aug;19(3):194-200. doi: 10.1053/j.sempedsurg.2010.03.004. Semin Pediatr Surg. 2010. PMID: 20610192 Free article. Review.
Hirschsprung's disease (HSCR) is characterized by absence of the enteric nervous system in a variable portion of the distal gut. ...In the last 2 decades, great advances have been made in understanding the genes and molecular biological mechanisms that underlie the …
Hirschsprung's disease (HSCR) is characterized by absence of the enteric nervous system in a variable portion of the distal gu …
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.
The nervous system involvement is extensive and constitutes one of the main features in MWS, heavily affecting prognosis and life quality of affected individuals. This review aims to comprehensively organize and discuss the neurological and neurodevelopmental phenotype of …
The nervous system involvement is extensive and constitutes one of the main features in MWS, heavily affecting prognosis and life qua …
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 …
The Hirschsprung's-multiple endocrine neoplasia connection.
Moore SW, Zaahl M. Moore SW, et al. Clinics (Sao Paulo). 2012;67 Suppl 1(Suppl 1):63-7. doi: 10.6061/clinics/2012(sup01)12. Clinics (Sao Paulo). 2012. PMID: 22584708 Free PMC article. Review.
The risk of patients with Hirschsprung's disease later developing multiple endocrine neoplasia remains a matter of concern. The multiple endocrine neoplasia 2-Hirschsprung's disease association has been shown to cosegregate in Hirschsprung's …
The risk of patients with Hirschsprung's disease later developing multiple endocrine neoplasia remains a matter of concern. Th …
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 …
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 …
Molecular mechanisms of RET-induced Hirschsprung pathogenesis.
Lantieri F, Griseri P, Ceccherini I. Lantieri F, et al. Ann Med. 2006;38(1):11-9. doi: 10.1080/07853890500442758. Ann Med. 2006. PMID: 16448984 Review.
The RET proto-oncogene is the major gene involved in the pathogenesis of Hirschsprung (HSCR), a complex genetic disease characterized by lack of ganglia along variable lengths of the gut. ...Finally, based on the RET mutation effects thus summarized, we attempt to d …
The RET proto-oncogene is the major gene involved in the pathogenesis of Hirschsprung (HSCR), a complex genetic disease charac …
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 …
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 …
Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease.
Gunadi, Ryantono F, Sethi R, Marcellus, Kalim AS, Imelda P, Melati D, Simanjaya S, Widitjiarso W, Pitaka RT, Arfian N, Iskandar K, Makhmudi A, Lai PS. Gunadi, et al. J Int Med Res. 2021 Feb;49(2):300060520987789. doi: 10.1177/0300060520987789. J Int Med Res. 2021. PMID: 33557656 Free PMC article.
OBJECTIVE: Cluster genes, specifically the class 3 semaphorins (SEMA3) including SEMA3C, have been associated with the development of Hirschsprung disease (HSCR) in Caucasian populations. We aimed to screen for rare and common variants in SEMA3C in Indonesian patien …
OBJECTIVE: Cluster genes, specifically the class 3 semaphorins (SEMA3) including SEMA3C, have been associated with the development of Hir …
30 results