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Quoted phrase not found in phrase index: "Hirschsprung disease, susceptibility to, 7"
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.
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 …
Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing.
Zhang Z, Li Q, Diao M, Liu N, Cheng W, Xiao P, Zou J, Su L, Yu K, Wu J, Li L, Jiang Q. Zhang Z, et al. Sci Rep. 2017 Nov 1;7(1):14796. doi: 10.1038/s41598-017-14835-6. Sci Rep. 2017. PMID: 29093530 Free PMC article. Clinical Trial.
Hirschsprung disease (HSCR) is a common cause of functional colonic obstruction in children. ...Rare stop-gain, splice-site variants, frameshift and in-frame insertions/deletions and non-synonymous variants (conserved and predicted to be deleterious) were pri …
Hirschsprung disease (HSCR) is a common cause of functional colonic obstruction in children. ...Rare stop-gain, splice-site va …
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 …
Trends and Predictors of Clostridium difficile Infection among Children: A Canadian Population-Based Study.
El-Matary W, Nugent Z, Yu BN, Lix LM, Targownik LE, Bernstein CN, Singh H. El-Matary W, et al. J Pediatr. 2019 Mar;206:20-25. doi: 10.1016/j.jpeds.2018.10.041. Epub 2018 Nov 15. J Pediatr. 2019. PMID: 30448272

Comorbid conditions, more prevalent among children with CDI than matched controls, included Hirschsprung disease (P < .001) and inflammatory bowel disease (P < .0001). ...CONCLUSIONS: The incidence of CDI is stable among children in Manitoba. Children w

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Comorbid conditions, more prevalent among children with CDI than matched controls, included Hirschsprung disease (P < .001)

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Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.
Sribudiani Y, Chauhan RK, Alves MM, Petrova L, Brosens E, Harrison C, Wabbersen T, de Graaf BM, Rügenbrink T, Burzynski G, Brouwer RWW, van IJcken WFJ, Maas SM, de Klein A, Osinga J, Eggen BJL, Burns AJ, Brooks AS, Shepherd IT, Hofstra RMW. Sribudiani Y, et al. Gastroenterology. 2018 Jul;155(1):118-129.e6. doi: 10.1053/j.gastro.2018.03.034. Epub 2018 Mar 28. Gastroenterology. 2018. PMID: 29601828 Free article.
BACKGROUND & AIMS: Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by absence of enteric ganglia in the distal part of the gut. Variants in ret proto-oncogene (RET) have been associated with up to 50% of familial and 35% of sporadic …
BACKGROUND & AIMS: Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by absence of enteric gan …
Clinical and genetic differences in total colonic aganglionosis in Hirschsprung's disease.
Moore SW, Zaahl M. Moore SW, et al. J Pediatr Surg. 2009 Oct;44(10):1899-903. doi: 10.1016/j.jpedsurg.2009.04.026. J Pediatr Surg. 2009. PMID: 19853744
Although apparently the same condition as Hirschsprung's disease (HSCR), total colonic aganglionosis (TCA) patients (2%-14% congenital aganglionosis) display clinical, histopathologic, and genetic differences that may account for altered clinical presentations. ...C …
Although apparently the same condition as Hirschsprung's disease (HSCR), total colonic aganglionosis (TCA) patients (2%-14% co …
A population-based description of familial clustering of Hirschsprung disease.
Teerlink CC, Bernhisel R, Cannon-Albright LA, Rollins MD. Teerlink CC, et al. J Pediatr Surg. 2018 Jul;53(7):1355-1359. doi: 10.1016/j.jpedsurg.2017.08.024. Epub 2017 Sep 1. J Pediatr Surg. 2018. PMID: 28919319
BACKGROUND: Familial recurrence of Hirschsprung disease (HSCR) is well documented, and risk estimates for relatives have been reported from various populations. ...CONCLUSION: This population-based survey of HSCR provides confirmation of a genetic contribution to HS …
BACKGROUND: Familial recurrence of Hirschsprung disease (HSCR) is well documented, and risk estimates for relatives have been …
Molecular Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 2B in Ethnic Han Chinese.
Zhang ZW, Guo X, Qi XP. Zhang ZW, et al. Endocr Metab Immune Disord Drug Targets. 2021;21(3):534-543. doi: 10.2174/1871530320666200910112230. Endocr Metab Immune Disord Drug Targets. 2021. PMID: 32914730
Other information of MEN 2B-related symptoms included penetrance of PHEO (60.7%), constipation (32.1%), Hirschsprung disease (25%), alacrima (17.8%), mucosal ganglioneuroma (96.4%) and marfanoid habitus (71.4%). 19 patients were verified harboring RET-M918T (c.2753T …
Other information of MEN 2B-related symptoms included penetrance of PHEO (60.7%), constipation (32.1%), Hirschsprung disease ( …
Hirschsprung's disease in Japan: analysis of 3852 patients based on a nationwide survey in 30 years.
Suita S, Taguchi T, Ieiri S, Nakatsuji T. Suita S, et al. J Pediatr Surg. 2005 Jan;40(1):197-201; discussion 201-2. doi: 10.1016/j.jpedsurg.2004.09.052. J Pediatr Surg. 2005. PMID: 15868585
BACKGROUND/PURPOSE: The introduction of laparoscope and transanal endorectal pull-through has caused a revolution in the operative procedures for Hirschsprung's disease. To study the changing profile of Hirschsprung's disease in Japan, the authors carr …
BACKGROUND/PURPOSE: The introduction of laparoscope and transanal endorectal pull-through has caused a revolution in the operative procedure …
12 results