Works matching Hirschsprung's disease and genetics

Results: 113

Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder.

Published in:

Clinical Genetics, 2005, v. 67, n. 1, p. 6, doi. 10.1111/j.1399-0004.2004.00319.x

By:

Brooks, A. S.;
Oostra, B. A.;
Hofstra, R. M. W.

Publication type:

Article

Common Genetic Variations in Patched1 (PTCH1) Gene and Risk of Hirschsprung Disease in the Han Chinese Population.

Published in:

PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075407

By:

Wang, Yang;
Wang, Jun;
Pan, Weihua;
Zhou, Ying;
Xiao, Yongtao;
Zhou, Kejun;
Wen, Jie;
Yu, Tingxi;
Cai, Wei

Publication type:

Article

Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease.

Published in:

Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00924

By:

Wang, Hui;
Li, Qi;
Zhang, Zhen;
Xiao, Ping;
Li, Long;
Jiang, Qian

Publication type:

Article

A study on genetic polymorphism of RET proto-oncogene in Hirschsprung's disease in children.

Published in:

2020

By:

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

Publication type:

journal article

Correlating of GSTM1, GSTT1, and GSTP1 genetic polymorphisms with the risk and expressions in children with isolated Hirschsprung disease.

Published in:

International Journal of Colorectal Disease, 2011, v. 26, n. 1, p. 117, doi. 10.1007/s00384-010-1013-7

By:

Hong Gao;
Rong He;
Xiaojing He;
Zhibo Zhang;
Dajia Wang;
Liangying Lv;
Weilin Wang;
Ying Huang

Publication type:

Article

Genetic polymorphisms of the SOX10 gene in Thai patients with sporadic Hirschsprung disease.

Published in:

Songklanakarin Journal of Science & Technology, 2020, v. 42, n. 3, p. 596

By:

Eadyow, Karun;
Phusantisampan, Theerawut;
Maneechay, Wanwisa;
Sangkhathat, Surasak

Publication type:

Article

Successful preimplantation genetic diagnosis (PGD) test for Hirschsprung disease.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2010, v. 20, p. S33, doi. 10.1016/S1472-6483(10)62347-4

By:

Burlet, P.;
Frydman, N.;
Steichen, C.;
Gigarel, N.;
Hesters, L.;
Kerbrat, V.;
Tachdjian, G.;
Munnich, A.;
Bonnefont, J.-P.;
Frydman, R.;
Steffann, J.

Publication type:

Article

Successful pre-implantation genetic diagnosis for Hirschsprung disease.

Published in:

Clinical Genetics, 2011, v. 80, n. 4, p. 403, doi. 10.1111/j.1399-0004.2011.01634.x

By:

Burlet, P;
Steichen, C;
Hesters, L;
Gigarel, N;
Kerbrat, V;
Frydman, R;
Munnich, A;
Amiel, J;
Frydman, N;
Steffann, J

Publication type:

Article

Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene.

Published in:

Pediatric Surgery International, 2012, v. 28, n. 2, p. 123, doi. 10.1007/s00383-011-2993-2

By:

Vaclavikova, Eliska;
Kavalcova, Lucie;
Skaba, Richard;
Dvorakova, Sarka;
Macokova, Pavla;
Rouskova, Blanka;
Bendlova, Bela

Publication type:

Article

Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies.

Published in:

2007

By:

Heanue, Tiffany A.;
Pachnis, Vassilis

Publication type:

journal article

The developmental genetics of Hirschsprung's disease The developmental genetics of Hirschsprung's disease.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 15, doi. 10.1111/cge.12032

By:

Bergeron, K‐F;
Silversides, DW;
Pilon, N

Publication type:

Article

Rare and common genetic variants underlying the risk of Hirschsprung's disease.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 7, p. 586, doi. 10.1093/hmg/ddae205

By:

Xiao, Jun;
Feng, Chenzhao;
Zhu, Tianqi;
Zhang, Xuan;
Chen, Xuyong;
Li, Zejian;
You, Jingyi;
Wang, Qiong;
Zhuansun, Didi;
Meng, Xinyao;
Wang, Jing;
Xiang, Lei;
Yu, Xiaosi;
Zhou, Bingyan;
Tang, Weibing;
Tou, Jinfa;
Wang, Yi;
Yang, Heying;
Yu, Lei;
Liu, Yuanmei

Publication type:

Article

Associations of CYP2B6 genetic polymorphisms with Hirschsprung's disease in a southern Chinese population.

Published in:

Journal of Clinical Laboratory Analysis, 2021, v. 35, n. 12, p. 1, doi. 10.1002/jcla.24074

By:

Liu, Yanqing;
Lan, Chaoting;
Li, Bingxiao;
Wang, Ning;
Zuo, Xiaoyu;
Huang, Lihua;
Wu, Yuxin;
Zhu, Yun

Publication type:

Article

"Too much guts and not enough brains": (epi)genetic mechanisms and future therapies of Hirschsprung disease — a review.

Published in:

Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0718-x

By:

Jaroy, Emilie G.;
Acosta-Jimenez, Lourdes;
Hotta, Ryo;
Goldstein, Allan M.;
Emblem, Ragnhild;
Klungland, Arne;
Ougland, Rune

Publication type:

Article

A Scoring System to Predict the Severity of Hirschsprung Disease at Diagnosis and Its Correlation With Molecular Genetics.

Published in:

Pediatric & Developmental Pathology, 2017, v. 30, n. 1, p. 28, doi. 10.1177/1093526616683883

By:

Nu´n˜ez-Ramos, Raquel;
Fernández, Raquel M.;
González-Velasco, Miguel;
Ruiz-Contreras, Jesu´ s;
Galán-Go´mez, Enrique;
Nu´n˜ez-Nu´n˜ez, Ramo´n;
Borrego, Salud

Publication type:

Article

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

Published in:

BioMed Research International, 2020, p. 1, doi. 10.1155/2020/5956412

By:

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

Publication type:

Article

Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease.

Published in:

World Journal of Pediatrics, 2023, v. 19, n. 7, p. 644, doi. 10.1007/s12519-023-00686-x

By:

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

Publication type:

Article

Potential association between ITPKC genetic variations and Hirschsprung disease.

Published in:

Molecular Biology Reports, 2017, v. 44, n. 3, p. 307, doi. 10.1007/s11033-017-4111-6

By:

Kim, Jeong-Hyun;
Jung, Soo-Min;
Shin, Joong-Gon;
Cheong, Hyun;
Seo, Jeong-Meen;
Kim, Dae-Yeon;
Oh, Jung-Tak;
Kim, Hyun-Young;
Jung, Kyuwhan;
Shin, Hyoung

Publication type:

Article

Genetics of Hirschsprung's disease.

Published in:

Pediatric Surgery International, 2023, v. 39, n. 1, p. 1, doi. 10.1007/s00383-022-05358-x

By:

Tang, Clara Sze-man;
Karim, Anwarul;
Zhong, Yuanxin;
Chung, Patrick Ho-yu;
Tam, Paul Kwong-hang

Publication type:

Article

Is intestinal stasis sufficient by itself in promoting enterocolitis in a non-genetic rat model of Hirschsprung's disease?

Published in:

Advances in Clinical & Experimental Medicine, 2019, v. 28, n. 10, p. 1429, doi. 10.17219/acem/109342

By:

Mitroudi, Magdalini;
Psalla, Dimitra;
Kontopoulou, Konstantina;
Theocharidis, Konstantinos;
Sfoungaris, Dimitrios

Publication type:

Article

Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 5, p. 286, doi. 10.1038/jhg.2012.18

By:

Phusantisampan, Theerawut;
Sangkhathat, Surasak;
Phongdara, Amornrat;
Chiengkriwate, Piyawan;
Patrapinyokul, Sakda;
Mahasirimongkol, Surakameth

Publication type:

Article

Hirschsprungova choroba a její genetické příčiny.

Published in:

Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2013, v. 68, n. 3, p. 167

By:

Dvořáková, Š.;
Václavíková, E.;
Škába, R.;
Kavalcová, L.;
Bendlová, B.

Publication type:

Article

What is new about the genetic background of Hirschsprung disease?

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 114, doi. 10.1111/cge.13615

By:

Luzón‐Toro, Berta;
Villalba‐Benito, Leticia;
Torroglosa, Ana;
Fernández, Raquel M.;
Antiñolo, Guillermo;
Borrego, Salud

Publication type:

Article

Genetic basis of Hirschsprung's disease.

Published in:

2009

By:

Tam, Paul K. H.;
Garcia-Barceló, Merce;
Garcia-Barceló, Mercè

Publication type:

journal article

Distinctive genetic variation of long‐segment Hirschsprung's disease in Taiwan.

Published in:

Neurogastroenterology & Motility, 2019, v. 31, n. 11, p. N.PAG, doi. 10.1111/nmo.13665

By:

Yang, Wendy;
Chen, Szu‐Chieh;
Lai, Jin‐Yao;
Ming, Yung‐Ching;
Chen, Jeng‐Chang;
Chen, Pei‐Lung

Publication type:

Article

Genetic variants of IL-11 associated with risk of Hirschsprung disease.

Published in:

Neurogastroenterology & Motility, 2015, v. 27, n. 10, p. 1371, doi. 10.1111/nmo.12629

By:

Kim, L. H.;
Cheong, H. S.;
Shin, J.‐G.;
Seo, J.‐M.;
Kim, D.‐Y.;
Oh, J.‐T.;
Kim, H.‐Y.;
Jung, K.;
Koh, I.;
Kim, J.‐H.;
Shin, H. D.

Publication type:

Article

High Levels of Interest in Reproductive Genetic Information in Parents of Children and Adults With Hirschsprung Disease.

Published in:

2019

By:

Berrios, Courtney D.;
Chakravarti, Aravinda;
Biesecker, Barbara B.

Publication type:

journal article

The advances of genetics research on Hirschsprung's disease.

Published in:

Pediatric Investigation, 2018, v. 2, n. 3, p. 189, doi. 10.1002/ped4.12062

By:

Ke, Juntao;
Zhu, Ying;
Miao, Xiaoping

Publication type:

Article

Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2997, doi. 10.1093/hmg/ddv051

By:

Kapoor, Ashish;
Qian Jiang;
Chatterjee, Sumantra;
Chakraborty, Prakash;
Sosa, Maria X.;
Berrios, Courtney;
Chakravarti, Aravinda

Publication type:

Article

Identification of Genetic Loci Affecting the Severity of Symptoms of Hirschsprung Disease in Rats Carrying Ednrbsl Mutations by Quantitative Trait Locus Analysis.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0122068

By:

Huang, Jieping;
Dang, Ruihua;
Torigoe, Daisuke;
Lei, Chuzhao;
Lan, Xianyong;
Chen, Hong;
Sasaki, Nobuya;
Wang, Jinxi;
Agui, Takashi

Publication type:

Article

RET and PHOX2B Genetic Polymorphisms and Hirschsprung's Disease Susceptibility: A Meta-Analysis.

Published in:

PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090091

By:

Liang, Chun-mei;
Ji, Dong-mei;
Yuan, Xu;
Ren, Ling-ling;
Shen, Juan;
Zhang, Hai-yan

Publication type:

Article

Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066631

By:

Cui, Long;
Wong, Emily Hoi-Man;
Cheng, Guo;
Firmato de Almeida, Manoel;
So, Man-Ting;
Sham, Pak-Chung;
Cherny, Stacey S.;
Tam, Paul Kwong-Hang;
Garcia-Barceló, Maria-Mercè

Publication type:

Article

Genetic Background Strongly Modifies the Severity of Symptoms of Hirschsprung Disease, but not Hearing Loss in Rats Carrying Ednrbsl Mutations.

Published in:

PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024086

By:

Dang, Ruihua;
Torigoe, Daisuke;
Suzuki, Sari;
Kikkawa, Yoshiaki;
Moritoh, Kanako;
Sasaki, Nobuya;
Agui, Takashi

Publication type:

Article

Copy Number Variants in Candidate Genes Are Genetic Modifiers of Hirschsprung Disease.

Published in:

PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021219

By:

Jiang, Qian;
Ho, Yen-Yi;
Hao, Li;
Berrios, Courtney Nichols;
Chakravarti, Aravinda

Publication type:

Article

Associations of SLC6A20 Genetic Polymorphisms with Hirschsprung's Disease in a Southern Chinese population.

Published in:

Bioscience Reports, 2019, v. 39, n. 8, p. 1, doi. 10.1042/BSR20182290

By:

Xiaoli Xie;
Qiuming He;
Lihua Huang;
Le Li;
Yuxiao Yao;
Huimin Xia;
Jinglu Zhao;
Wei Zhong;
Yan Zhang

Publication type:

Article

Association of <italic>NRG1</italic> and <italic>AUTS2</italic> genetic polymorphisms with Hirschsprung disease in a South Chinese population.

Published in:

Journal of Cellular & Molecular Medicine, 2018, v. 22, n. 4, p. 2190, doi. 10.1111/jcmm.13498

By:

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

Publication type:

Article

Genetic Background of Hirschsprung Disease: A Bridge Between Basic Science and Clinical Application.

Published in:

Journal of Cellular Biochemistry, 2018, v. 119, n. 1, p. 28, doi. 10.1002/jcb.26149

By:

Bahrami, Afsane;
Joodi, Marjan;
Moetamani‐Ahmadi, Mehrdad;
Maftouh, Mina;
Hassanian, Seyed Mahdi;
Ferns, Gordon A.;
Avan, Amir

Publication type:

Article

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

Published in:

Journal of Gene Medicine, 2021, v. 23, n. 2, p. 1, doi. 10.1002/jgm.3301

By:

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

Publication type:

Article

Advances in Molecular Genetics of Hirschsprung's Disease.

Published in:

Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2012, v. 295, n. 10, p. 1628, doi. 10.1002/ar.22538

By:

Pan, Zhi-Wen;
Li, Ji-Cheng

Publication type:

Article

Genetische Grundlagen des Morbus Hirschsprung.

Published in:

Der Pathologe, 2007, v. 28, n. 2, p. 113, doi. 10.1007/s00292-007-0899-5

By:

Passarge, E.;
Bruder, E.

Publication type:

Article

Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis.

Published in:

BMC Medical Genetics, 2011, v. 12, n. 1, p. 32, doi. 10.1186/1471-2350-12-32

By:

Jinfa Tou;
Li Wang;
Li Liu;
Ying Wang;
Rong Zhong;
Shengyu Duan;
Weiguang Liu;
Qixing Xiong;
Qinglong Gu;
Hong Yang;
Hui Li

Publication type:

Article

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.

Published in:

Scientific Reports, 2015, p. 16473, doi. 10.1038/srep16473

By:

Luzón-Toro, Berta;
Gui, Hongsheng;
Ruiz-Ferrer, Macarena;
Sze-Man Tang, Clara;
Fernández, Raquel M.;
Sham, Pak-Chung;
Torroglosa, Ana;
Kwong-Hang Tam, Paul;
Espino-Paisán, Laura;
Cherny, Stacey S.;
Bleda, Marta;
Enguix-Riego, María del Valle;
Dopazo, Joaquín;
Antiñolo, Guillermo;
García-Barceló, María-Mercé;
Borrego, Salud

Publication type:

Article

Advances in Hirschsprung Disease Genetics and Treatment Strategies: An Update for the Primary Care Pediatrician.

Published in:

Clinical Pediatrics, 2014, v. 53, n. 1, p. 71, doi. 10.1177/0009922813500846

By:

Burkardt, Deepika D’Cunha;
Graham, John M.;
Short, Scott S.;
Frykman, Philip K.

Publication type:

Article

Hirschsprung disease: a genetic study.

Published in:

Clinical Genetics, 1985, v. 28, n. 6, p. 503, doi. 10.1111/j.1399-0004.1985.tb00417.x

By:

Garver, Kenneth L.;
Law, John C.;
Garver, Bettylee

Publication type:

Article

Correlation Between Genetic Variations in Hox Clusters and Hirschsprung's Disease.

Published in:

Annals of Human Genetics, 2007, v. 71, n. 4, p. 526, doi. 10.1111/j.1469-1809.2007.00347.x

By:

Garcia-Barcel, M. M.;
Miao, X.;
Lui, V. C. H.;
So, M. T.;
Ngan, E. S. W.;
Leon, T. Y. Y.;
Lau, D. K. C.;
Liu, T. T.;
Lao, X.;
Guo, W.;
Holden, W. T.;
Moore, J.;
Tam, P. K. H.

Publication type:

Article

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.

Published in:

2019

By:

Lantieri, Francesca;
Gimelli, Stefania;
Viaggi, Chiara;
Stathaki, Elissavet;
Malacarne, Michela;
Santamaria, Giuseppe;
Grossi, Alice;
Mosconi, Manuela;
Sloan-Béna, Frédérique;
Prato, Alessio Pini;
Coviello, Domenico;
Ceccherini, Isabella

Publication type:

journal article

Japanese patients with sporadic Hirschsprung: mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: a comparison with similar studies.

Published in:

2000

By:

Sakai, T.;
Nirasawa, Y.;
Itoh, Y.;
Wakizaka, A.

Publication type:

journal article

Etiopathological aspects of achalasia: lessons learned with Hirschsprung's disease.

Published in:

Diseases of the Esophagus, 2012, v. 25, n. 6, p. 566, doi. 10.1111/j.1442-2050.2011.01277.x

By:

Gockel, H. R.;
Gockel, I.;
Schimanski, C. C.;
Schier, F.;
Schumacher, J.;
Nöthen, M. M.;
Lang, H.;
Müller, M.;
Eckardt, A. J.;
Eckardt, V. F.

Publication type:

Article

Chronic Intestinal Pseudo-Obstruction.

Published in:

Digestive Diseases, 2000, v. 18, n. 2, p. 83, doi. 10.1159/000016969

By:

Hirano, Ikuo;
Pandolfino, John

Publication type:

Article

Hirschsprung Disease Diagnosis: Calretinin Marker Role in Determining the Presence or Absence of Ganglion Cells.

Published in:

Iranian Journal of Pathology, 2016, v. 11, n. 4, p. 409

By:

Rakhshani, Nasser;
Araste, Mohammadreza;
Imanzade, Farid;
Panahi, Mahshid;
Tameshkel, Fahimeh Safarnezhad;
Sohrabi, Masoud Reza;
Karbalaie Niya, Mohammad Hadi;
Zamani, Farhad

Publication type:

Article