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Select item 105221061.

Maternal Vitamin A Status as a Risk Factor of Hirschsprung Disease in the Child

Shalini G. Hegde, Sarita Devi, Ambily Sivadas, Attibele Mahadevaiah Shubha, Annamma Thomas, Arpita Mukhopadhyay, Anura V. Kurpad

Clin Transl Gastroenterol. 2023 Sep; 14(9): e00619. Published online 2023 Jul 26. doi: 10.14309/ctg.0000000000000619

PMCID:: PMC10522106

Abstract Article PDF–253K

Select item 102581702.

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 100948923.

Up-Regulation of microRNA-424 Causes an Imbalance in AKT Phosphorylation and Impairs Enteric Neural Crest Cell Migration in Hirschsprung Disease

Ze Xu, Yingnan Yan, Beilin Gu, Wei Cai, Yang Wang

Int J Mol Sci. 2023 Apr; 24(7): 6700. Published online 2023 Apr 4. doi: 10.3390/ijms24076700

PMCID:: PMC10094892

Abstract Article PDF–7.2M

Select item 98987414.

Intestinal fibrosis in aganglionic segment of Hirschsprung's disease revealed by single‐cell RNA sequencing

Shiwei He, Junfeng Wang, Yanlei Huang, Fanyang Kong, Ran Yang, Yong Zhan, Zifeng Li, Chunjing Ye, Lingdu Meng, Yankang Ren, Ying Zhou, Gong Chen, Zhen Shen, Song Sun, Shan Zheng, Rui Dong

Clin Transl Med. 2023 Feb; 13(2): e1193. Published online 2023 Feb 3. doi: 10.1002/ctm2.1193

PMCID:: PMC9898741

Abstract Article PDF–6.4M

Select item 92580675.

Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report

Li Zhang, Yue Wan, Ningli Wang

J Med Case Rep. 2022; 16: 264. Published online 2022 Jul 6. doi: 10.1186/s13256-022-03460-1

PMCID:: PMC9258067

Abstract Article PDF–2.4M

Select item 90199926.

The impact of NRG1 expressions and methylation on multifactorial Hirschsprung disease

Gunadi, Alvin Santoso Kalim, Marcellus, Nova Yuli Prasetyo Budi, Kristy Iskandar

BMC Pediatr. 2022; 22: 216. Published online 2022 Apr 20. doi: 10.1186/s12887-022-03287-1

PMCID:: PMC9019992

Abstract Article PDF–1.0M

Select item 85058367.

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 83059168.

Neurological Phenotype of Mowat-Wilson Syndrome

Duccio Maria Cordelli, Veronica Di Pisa, Anna Fetta, Livia Garavelli, Lucia Maltoni, Luca Soliani, Emilia Ricci

Genes (Basel) 2021 Jul; 12(7): 982. Published online 2021 Jun 27. doi: 10.3390/genes12070982

PMCID:: PMC8305916

Abstract Article PDF–1.6M

Select item 83046859.

ZEB2, the Mowat-Wilson Syndrome Transcription Factor: Confirmations, Novel Functions, and Continuing Surprises

Judith C. Birkhoff, Danny Huylebroeck, Andrea Conidi

Genes (Basel) 2021 Jul; 12(7): 1037. Published online 2021 Jul 3. doi: 10.3390/genes12071037

PMCID:: PMC8304685

Abstract Article PDF–2.7M

Select item 795010710.

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 787676711.

Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease

Gunadi, Fiko Ryantono, Raman Sethi, Marcellus, Alvin Santoso Kalim, Priscillia Imelda, Devy Melati, Susan Simanjaya, William Widitjiarso, Ririd Tri Pitaka, Nur Arfian, Kristy Iskandar, Akhmad Makhmudi, Poh San Lai

J Int Med Res. 2021 Feb; 49(2): 0300060520987789. Published online 2021 Feb 8. doi: 10.1177/0300060520987789

PMCID:: PMC7876767

Abstract Article PDF–805K

Select item 786950112.

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report

Safoura Zardadi, Sima Rayat, Maryam Hassani Doabsari, Aliagha Alishiri, Mohammad Keramatipour, Zeynab Javanfekr Shahri, Saeid Morovvati

BMC Pediatr. 2021; 21: 70. Published online 2021 Feb 8. doi: 10.1186/s12887-021-02521-6

PMCID:: PMC7869501

Abstract Article PDF–1.3M

Select item 781487613.

RET somatic mutations are under-recognized in Hirschsprung disease

Qian Jiang, Fang Liu, Chunyue Miao, Qi Li, Zhen Zhang, Ping Xiao, Lin Su, Kaihui Yu, Xiaoli Chen, Feng Zhang, Aravinda Chakravarti, Long Li

Genet Med. Author manuscript; available in PMC 2021 Jan 19.

Published in final edited form as: Genet Med. 2018 Jul; 20(7): 770–777. Published online 2017 Oct 26. doi: 10.1038/gim.2017.178

PMCID:: PMC7814876

Abstract Article PDF–1.1M

Select item 729465614.

Mowat-Wilson syndrome: growth charts

Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Hoei-Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Klint Nielsen, Vladimir Kuburovic, Brissia Lazalde-Medina, Baris Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, Maria Luisa Poch-Olive, Igor Prpic, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Smigiel, George Tanteles, Luigi Tarani, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli

Orphanet J Rare Dis. 2020; 15: 151. Published online 2020 Jun 15. doi: 10.1186/s13023-020-01418-4

PMCID:: PMC7294656

Abstract Article PDF–2.2M

Select item 709107915.

Identifying key genes associated with Hirschsprung’s disease based on bioinformatics analysis of RNA-sequencing data

Wei-Kang Pan, Ya-Fei Zhang, Hui Yu, Ya Gao, Bai-Jun Zheng, Peng Li, Chong Xie, Xin Ge

World J Pediatr. 2017; 13(3): 267–273. Published online 2017 Jan 25. doi: 10.1007/s12519-017-0002-0

PMCID:: PMC7091079

Abstract Article PDF–460K

Select item 682246716.

Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations

Qian Jiang, Yang Wang, Qi Li, Zhen Zhang, Ping Xiao, Hui Wang, Na Liu, Jian Wu, Feng Zhang, Aravinda Chakravarti, Wei Cai, Long Li

Orphanet J Rare Dis. 2019; 14: 237. Published online 2019 Oct 30. doi: 10.1186/s13023-019-1194-2

PMCID:: PMC6822467

Abstract Article PDF–2.1M

Select item 659629817.

Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease

Joseph M. Tilghman, Albee Y. Ling, Tychele N. Turner, Maria X. Sosa, Niklas Krumm, Sumantra Chatterjee, Ashish Kapoor, Bradley P. Coe, Khanh-Dung H. Nguyen, Namrata Gupta, Stacey Gabriel, Evan E. Eichler, Courtney Berrios, Aravinda Chakravarti

N Engl J Med. Author manuscript; available in PMC 2019 Oct 11.

Published in final edited form as: N Engl J Med. 2019 Apr 11; 380(15): 1421–1432. doi: 10.1056/NEJMoa1706594

PMCID:: PMC6596298

Abstract Article PDF–356K

Select item 644430318.

Gfra1 Underexpression Causes Hirschsprung’s Disease and Associated Enterocolitis in Mice

L. Lauriina Porokuokka, Heikki T. Virtanen, Jere Lindén, Yulia Sidorova, Tatiana Danilova, Maria Lindahl, Mart Saarma, Jaan-Olle Andressoo

Cell Mol Gastroenterol Hepatol. 2019; 7(3): 655–678. Published online 2018 Dec 27. doi: 10.1016/j.jcmgh.2018.12.007

PMCID:: PMC6444303

Abstract Article PDF–9.7M

Select item 633056619.

The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report

Angela E. Rankine-Mullings, Graham Serjeant, Zachary Ramsay, Neil A. Hanchard, Monika Asnani

J Med Case Rep. 2019; 13: 10. Published online 2019 Jan 13. doi: 10.1186/s13256-018-1953-z

PMCID:: PMC6330566

Abstract Article PDF–366K

Select item 632386520.

Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease

Gunadi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Wiwid Santiko, Fuad Dheni Musthofa, Kristy Iskandar, Akhmad Makhmudi

Orphanet J Rare Dis. 2019; 14: 5. Published online 2019 Jan 7. doi: 10.1186/s13023-018-0973-5

PMCID:: PMC6323865

Abstract Article PDF–714K

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