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Select item 102581701.

Comprehensive characterization of the genetic landscape of familial Hirschsprung’s disease

Jun Xiao, Lu-Wen Hao, Jing Wang, Xiao-Si Yu, Jing-Yi You, Ze-Jian Li, Han-Dan Mao, Xin-Yao Meng, Jie-Xiong Feng

World J Pediatr. 2023; 19(7): 644–651. Published online 2023 Mar 1. doi: 10.1007/s12519-023-00686-x

PMCID:: PMC10258170

Abstract Article PDF–855K

Select item 98435252.

The transition zone in Hirschsprung's bowel contains abnormal hybrid ganglia with characteristics of extrinsic nerves

Megan Smith, Sumita Chhabra, Rajeev Shukla, Simon Kenny, Sarah Almond, David Edgar, Bettina Wilm

J Cell Mol Med. 2023 Jan; 27(2): 287–298. Published online 2023 Jan 6. doi: 10.1111/jcmm.17659

PMCID:: PMC9843525

Abstract Article PDF–5.4M

Select item 85058363.

Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children

Chaoting Lan, Yuxin Wu, Ning Wang, Yun Luo, Jinglu Zhao, Yi Zheng, Yan Zhang, Lihua Huang, Yun Zhu, Lifeng Lu, Wei Zhong, Jixiao Zeng, Huimin Xia

J Cell Mol Med. 2021 Oct; 25(20): 9609–9616. Published online 2021 Sep 20. doi: 10.1111/jcmm.16905

PMCID:: PMC8505836

Abstract Article PDF–389K

Select item 80516384.

A Study on Genetic Polymorphism of RET Proto-Oncogene in Hirschsprung's Disease in Children

Madhu Kumari, Chhanda Das, Madhumita Mukhopadhyay, Rishav Dev Patra, Pradip Kumar Mitra, Biswanath Mukhopadhyay

Afr J Paediatr Surg. 2020 Jul-Dec; 17(3-4): 104–107. Published online 2020 Dec 19. doi: 10.4103/ajps.AJPS_69_17

PMCID:: PMC8051638

Abstract Article PDF–339K

Select item 79501075.

Quantitative Proteomics Reveals Association of Neuron Projection Development Genes ARF4, KIF5B, and RAB8A With Hirschsprung Disease

Qin Zhang, Lihua Wu, Baoling Bai, Dan Li, Ping Xiao, Qi Li, Zhen Zhang, Hui Wang, Long Li, Qian Jiang

Mol Cell Proteomics. 2021; 20: 100007. Published online 2020 Dec 8. doi: 10.1074/mcp.RA120.002325

PMCID:: PMC7950107

Abstract Article PDF–3.6M

Select item 79009506.

Associations between common genetic variants in microRNAs and Hirschsprung disease susceptibility in Southern Chinese children

Qi Wu, Jinglu Zhao, Yi Zheng, Xiaoli Xie, Qiuming He, Yun Zhu, Ning Wang, Lihua Huang, Lifeng Lu, Tuqun Hu, Jixiao Zeng, Huimin Xia, Yan Zhang, Wei Zhong

J Gene Med. 2021 Feb; 23(2): e3301. Published online 2021 Jan 7. doi: 10.1002/jgm.3301

PMCID:: PMC7900950

Abstract Article PDF–519K

Select item 76486757.

Significant Association of rs2147555 Genetic Polymorphism in the EDNRB Gene with Hirschsprung Disease in Southern Chinese Children

Yi Zheng, ChaoTing Lan, Ning Wang, Xiaogang Xu, Tuqun Hu, Qi Wu, Xiaoli Xie, Zhe Wang, Yan Zhang, Cong Li

Biomed Res Int. 2020; 2020: 5956412. Published online 2020 Oct 31. doi: 10.1155/2020/5956412

PMCID:: PMC7648675

Abstract Article PDF–651K

Select item 76052558.

Whole-genome analysis of noncoding genetic variations identifies multiscale regulatory element perturbations associated with Hirschsprung disease

Alexander Xi Fu, Kathy Nga-Chu Lui, Clara Sze-Man Tang, Ray Kit Ng, Frank Pui-Ling Lai, Sin-Ting Lau, Zhixin Li, Maria-Mercè Garcia-Barcelo, Pak-Chung Sham, Paul Kwong-Hang Tam, Elly Sau-Wai Ngan, Kevin Y. Yip

Genome Res. 2020 Nov; 30(11): 1618–1632. doi: 10.1101/gr.264473.120

PMCID:: PMC7605255

Abstract Article PDF–7.8M

Select item 75724649.

Pan-enteric neuropathy and dysmotility are present in a mouse model of short-segment Hirschsprung disease and may contribute to post-pullthrough morbidity

Sukhada Bhave, Emily Arciero, Corey Baker, Wing Lam Ho, Richard A. Guyer, Ryo Hotta, Allan M. Goldstein

J Pediatr Surg. Author manuscript; available in PMC 2022 Feb 1.

Published in final edited form as: J Pediatr Surg. 2021 Feb; 56(2): 250–256. Published online 2020 Apr 17. doi: 10.1016/j.jpedsurg.2020.04.002

PMCID:: PMC7572464

Abstract Article PDF–1.6M

Select item 612390610.

NRG1 variant effects in patients with Hirschsprung disease

Gunadi, Nova Yuli Prasetyo Budi, Raman Sethi, Aditya Rifqi Fauzi, Alvin Santoso Kalim, Taufik Indrawan, Kristy Iskandar, Akhmad Makhmudi, Indra Adrianto, Lai Poh San

BMC Pediatr. 2018; 18: 292. Published online 2018 Sep 4. doi: 10.1186/s12887-018-1265-x

PMCID:: PMC6123906

Abstract Article PDF–1011K

Select item 604582911.

Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population

Yong Wang, Qiuming He, Ruizhong Zhang, Wei Zhong, Deli Zhu, Yan Zhang, Huimin Xia

BMC Med Genet. 2018; 19: 116. Published online 2018 Jul 13. doi: 10.1186/s12881-018-0637-2

PMCID:: PMC6045829

Abstract Article PDF–558K

Select item 586708312.

Association of NRG1 and AUTS2 genetic polymorphisms with Hirschsprung disease in a South Chinese population

Yan Zhang, Xiaoli Xie, Jixiao Zeng, Qiang Wu, Ruizhong Zhang, Deli Zhu, Huimin Xia

J Cell Mol Med. 2018 Apr; 22(4): 2190–2199. Published online 2018 Jan 29. doi: 10.1111/jcmm.13498

PMCID:: PMC5867083

Abstract Article PDF–142K

Select item 563667113.

Large-scale replication study identified multiple independent SNPs in RET synergistically associated with Hirschsprung disease in Southern Chinese population

Yan Zhang, Qiuming He, Ruizhong Zhang, Hong Zhang, Wei Zhong, Huimin Xia

Aging (Albany NY) 2017 Sep; 9(9): 1996–2009. Published online 2017 Sep 20. doi: 10.18632/aging.101294

PMCID:: PMC5636671

Abstract Article PDF–1.1M

Select item 557704314.

Effects of NRG1 Polymorphisms on Hirschsprung’s Disease Susceptibility: A Meta-analysis

Meng Jiang, Changli Li, Guoqing Cao, Dehua Yang, Xi Zhang, Li Yang, Shuai Li, Shao-tao Tang

Sci Rep. 2017; 7: 9913. Published online 2017 Aug 30. doi: 10.1038/s41598-017-10477-w

PMCID:: PMC5577043

Abstract Article PDF–1.6M

Select item 461206615.

Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung’s disease

Xiang-Long Duan, Xian-Sheng Zhang, Guo-Wei Li

World J Gastroenterol. 2003 Dec 15; 9(12): 2839–2842. Published online 2003 Dec 15. doi: 10.3748/wjg.v9.i12.2839

PMCID:: PMC4612066

Abstract Article PDF–115K

Select item 447687816.

Abundance and significance of neuroligin-1 and glutamate in Hirschsprung’s disease

Jian Wang, Hao Du, Ya-Ru Mou, Jian-Yi Niu, Wen-Tong Zhang, Hong-Chao Yang, Ai-Wu Li

World J Gastroenterol. 2015 Jun 21; 21(23): 7172–7180. Published online 2015 Jun 21. doi: 10.3748/wjg.v21.i23.7172

PMCID:: PMC4476878

Abstract Article PDF–1.2M

Select item 425424317.

Effect of RET c.2307T>G Polymorphism on the Outcomes of Posterior Sagittal Neurectomy for Hirschsprung Disease Procedure in Indonesian Population

Rochadi, Sophia Mubarika Haryana, Ahmad Hamim Sadewa, Gunadi

Int Surg. 2014 Nov-Dec; 99(6): 802–806. doi: 10.9738/INTSURG-D-14-00082.1

PMCID:: PMC4254243

Abstract Article PDF–74K

Select item 419560618.

A Genome-Wide Association Study Identifies Potential Susceptibility Loci for Hirschsprung Disease

Jeong-Hyun Kim, Hyun Sub Cheong, Jae Hoon Sul, Jeong-Meen Seo, Dae-Yeon Kim, Jung-Tak Oh, Kwi-Won Park, Hyun-Young Kim, Soo-Min Jung, Kyuwhan Jung, Min Jeng Cho, Joon Seol Bae, Hyoung Doo Shin

PLoS One. 2014; 9(10): e110292. Published online 2014 Oct 13. doi: 10.1371/journal.pone.0110292

PMCID:: PMC4195606

Abstract Article PDF–780K

Select item 357532919.

Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung’s disease

Raquel Ma Fernández, Marta Bleda, Rocío Núñez-Torres, Ignacio Medina, Berta Luzón-Toro, Luz García-Alonso, Ana Torroglosa, Martina Marbà, Ma Valle Enguix-Riego, David Montaner, Guillermo Antiñolo, Joaquín Dopazo, Salud Borrego

Orphanet J Rare Dis. 2012; 7: 103. Published online 2012 Dec 28. doi: 10.1186/1750-1172-7-103

PMCID:: PMC3575329

Abstract Article PDF–2.6M

Select item 323516820.

RET Mutational Spectrum in Hirschsprung Disease: Evaluation of 601 Chinese Patients

Man-Ting So, Thomas Yuk-Yu Leon, Guo Cheng, Clara Sze-Man Tang, Xiao-Ping Miao, Belinda K. Cornes, Diem Ngoc Ngo, Long Cui, Elly Sau-Wai Ngan, Vincent Chai-Hang Lui, Xuan-Zhao Wu, Bin Wang, Hualong Wang, Zheng-Wei Yuan, Liu-Ming Huang, Long Li, Huimin Xia, Deli Zhu, Juncheng Liu, Thanh Liem Nguyen, Ivy Hau-Yee Chan, Patrick Ho-Yu Chung, Xue-Lai Liu, Ruizhong Zhang, Kenneth Kak-Yuen Wong, Pak-Chung Sham, Stacey S. Cherny, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barcelo

PLoS One. 2011; 6(12): e28986. Published online 2011 Dec 9. doi: 10.1371/journal.pone.0028986

PMCID:: PMC3235168

Abstract Article PDF–87K

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