Hirschsprung's Disease
What's New
Last Posted: Jan 30, 2024
- High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.
Hui-Yang Ding, et al. Pediatric surgery international 2024 0 (1) 38 - The interplay of common genetic variants NRG1 rs2439302 and RET rs2435357 increases the risk of developing Hirschsprung's disease.
Shuiqing Chi, et al. Frontiers in cell and developmental biology 2023 0 1184799 - Congenital Central Hypoventilation Syndrome: Diagnosis and Long-Term Ventilatory Outcomes.
Mary Ellen Fain, et al. Clinical medicine insights. Pediatrics 2023 0 11795565231169556 - Susceptibility of PCSK2 Polymorphism to Hirschsprung Disease in Southern Chinese Children.
Bingtong Wang, et al. Clinical and experimental gastroenterology 2023 0 59-64 - Susceptibility of ECE1 polymorphisms to Hirschsprung's disease in southern Chinese children.
Lan Chaoting, et al. Frontiers in pediatrics 2023 0 1056938 - Identification of two novel PCDHA9 mutations associated with Hirschsprung's disease.
Shen Qiyang, et al. Gene 2018 0 96-104 - RET fusions in solid tumors.
Li Andrew Y, et al. Cancer treatment reviews 2019 0 101911 - Distinctive genetic variation of long-segment Hirschsprung's disease in Taiwan.
Yang Wendy, et al. Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society 2019 0 (11) e13665 - Novel Causative RET Mutation in a Japanese Family with Hirschsprung's Disease: Case Report and Factors Impacting Disease Severity.
Higuchi Tsukasa, et al. Journal of pediatric genetics 2022 0 (3) 240-244 - Association of Variants in PLD1, 3p24.1, and 10q11.21 Regions With Hirschsprung's Disease in Han Chinese Population.
Niu Wei-Bo, et al. Frontiers in genetics 2020 0 738 - Kidney malformations and Hirschsprung's disease in carriers of cysteine mutations in exon 10 of the RET proto-oncogene.
Machens Andreas, et al. Endocrine 2021 0 (1) 217-222 - The role of GSTM1 gene polymorphism in pathophysiology, evaluation, and management of constipation of anorectal outlet obstruction.
Wang Shuo, et al. Cellular and molecular biology (Noisy-le-Grand, France) 2021 0 (3) 163-167 - Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial Hirschsprung's disease.
Guan Tao, et al. World journal of gastroenterology 2005 0 (2) 275-9 - Association between IKBKAP polymorphisms and Hirschsprung's disease susceptibility in Chinese children.
Wang Ning, et al. Translational pediatrics 2022 6 (6) 789-796 - Associations of CYP2B6 genetic polymorphisms with Hirschsprung's disease in a southern Chinese population.
Liu Yanqing, et al. Journal of clinical laboratory analysis 2021 11 e24074 - A study on genetic polymorphism of RET proto-oncogene in Hirschsprung's disease in children.
Kumari Madhu, et al. African journal of paediatric surgery : AJPS 0 0 (3 & 4) 104-107 - Common variation of the NSD1 gene is associated with susceptibility to Hirschsprung's disease in Chinese Han population.
Yu Xian-Xian, et al. Pediatric research 2020 5 - Association of Neuregulin 1 rs7835688?G?>?C, rs16879552 T?>?C and rs2439302?G?>?C Polymorphisms with Susceptibility to Non-Syndromic Hirschsprung's Disease.
Hosseini-Jangjou Seyed Hamed, et al. Fetal and pediatric pathology 2019 11 1-8 - Associations of SLC6A20 genetic polymorphisms with Hirschsprung's disease in a Southern Chinese population.
Xie Xiaoli, et al. Bioscience reports 2019 7 - Long-term follow-up of RET Y791F carriers in Denmark 1994-2017: A National Cohort Study.
Høxbroe Michaelsen Sanne et al. Journal of surgical oncology 2019 May 119(6) 687-693 - GT-repeat extension in the IL11 promoter is associated with Hirschsprung's disease (HSCR).
Haase Michael G, et al. Gene 2018 7 - Significance of neurexin and neuroligin polymorphisms in regulating risk of Hirschsprung's disease.
Li Yanhong, et al. Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2018 4 - Effects of NRG1 Polymorphisms on Hirschsprung's Disease Susceptibility: A Meta-analysis.
Jiang Meng, et al. Scientific reports 2017 8 (1) 9913 - [Genotype-phenotype correlations in multiple endocrine neoplasia type 2].
Zhang X W, et al. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2016 7 (7) 538-41 - Expression of Tenascin C, EGFR, E-Cadherin, and TTF-1 in Medullary Thyroid Carcinoma and the Correlation with RET Mutation Status.
Steiner Florian, et al. International journal of molecular sciences 2016 0 (7) - Hedgehog gene polymorphisms are associated with the risk of Hirschsprung's disease and anorectal malformation in a Chinese population.
Gao Hong, et al. Molecular medicine reports 2016 4 - Exome-Wide Association Study Identified New Risk Loci for Hirschsprung's Disease.
Tang Weibing, et al. Molecular neurobiology 2016 2 - Effect of 3'UTR RET Variants on RET mRNA Secondary Structure and Disease Presentation in Medullary Thyroid Carcinoma.
Ceolin Lucieli, et al. PloS one 2016 0 (2) e0147840 - Genetic variation in the GDNF promoter affects its expression and modifies the severity of Hirschsprung's disease (HSCR) in rats carrying Ednrb(sl) mutations.
Huang Jieping, et al. Gene 2015 8 - Identification of genetic loci affecting the severity of symptoms of Hirschsprung disease in rats carrying Ednrbsl mutations by quantitative trait locus analysis.
Huang Jieping, et al. PloS one 2015 0 (3) e0122068 - Clinical and genetic correlations of familial Hirschsprung's disease.
Moore Sam W, et al. Journal of pediatric surgery 2015 2 (2) 285-8 - RET and PHOX2B genetic polymorphisms and Hirschsprung's disease susceptibility: a meta-analysis.
Liang Chun-mei, et al. PloS one 2014 0 (3) e90091 - The single nucleotide polymorphisms in Smad-interacting protein 1 gene contribute to its ectopic expression and susceptibility in Hirschsprung's disease.
Zhang Shucheng, et al. Experimental and molecular pathology 2014 4 (2) 219-24 - Polymorphisms and expression of the WNT8A gene in Hirschsprung's disease.
Gao Hong, et al. International journal of molecular medicine 2013 9 (3) 647-52 - Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's disease in a Chinese population.
Yang J, et al. Molecular neurobiology 2013 1 - Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.
Fernández RM, et al. Orphanet journal of rare diseases 2012 12 (1) 1 - Correlation between multiple RET mutations and severity of Hirschsprung's disease.
Ishii Kunihiro, et al. Pediatric surgery international 2013 2 (2) 157-63 - Is there a link between the calcium sensing receptor and Hirschsprung's disease? A mutational analysis.
Romero Philipp, et al. Journal of pediatric surgery 2012 3 (3) 551-5 - The role of RET genomic variants in infantile hypertrophic pyloric stenosis.
Serra A, et al. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift für Kinderchirurgie 2011 12 (6) 389-94 - Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis.
Tou Jinfa, et al. BMC medical genetics 2011 0 32
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- Page last reviewed:Feb 1, 2024
- Page last updated:May 01, 2024
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