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4. Combined Genetic Effects of RET and NRG1 Susceptibility Variants on Multifactorial Hirschsprung Disease in Indonesia. Gunadi ; Iskandar K; Makhmudi A; Kapoor A J Surg Res; 2019 Jan; 233():96-99. PubMed ID: 30502294 [TBL] [Abstract][Full Text] [Related]
5. Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease. Gunadi ; Kapoor A; Ling AY; Rochadi ; Makhmudi A; Herini ES; Sosa MX; Chatterjee S; Chakravarti A J Pediatr Surg; 2014 Nov; 49(11):1614-8. PubMed ID: 25475805 [TBL] [Abstract][Full Text] [Related]
6. 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 Gastroenterology; 2018 Jul; 155(1):118-129.e6. PubMed ID: 29601828 [TBL] [Abstract][Full Text] [Related]
7. Exome sequencing identifies novel genes and variants in patients with Hirschsprung disease. Gunadi ; Kalim AS; Iskandar K; Marcellus ; Puspitarani DA; Diposarosa R; Makhmudi A; Astuti GDN J Pediatr Surg; 2023 Apr; 58(4):723-728. PubMed ID: 36586783 [TBL] [Abstract][Full Text] [Related]
8. Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patients. Luzón-Toro B; Fernández RM; Torroglosa A; de Agustín JC; Méndez-Vidal C; Segura DI; Antiñolo G; Borrego S PLoS One; 2013; 8(1):e54800. PubMed ID: 23372769 [TBL] [Abstract][Full Text] [Related]
9. Aberrant Expressions and Variant Screening of Gunadi ; Kalim AS; Budi NYP; Hafiq HM; Maharani A; Febrianti M; Ryantono F; Yulianda D; Iskandar K; Veltman JA Front Pediatr; 2020; 8():60. PubMed ID: 32219083 [No Abstract] [Full Text] [Related]
11. Accuracy of polymerase chain reaction-restriction fragment length polymorphism for RET rs2435357 genotyping as Hirschsprung risk. Gunadi ; Dwihantoro A; Iskandar K; Makhmudi A; Rochadi J Surg Res; 2016 Jun; 203(1):91-4. PubMed ID: 27338539 [TBL] [Abstract][Full Text] [Related]
12. Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events. Núñez-Torres R; Fernández RM; Acosta MJ; Enguix-Riego Mdel V; Marbá M; Carlos de Agustín J; Castaño L; Antiñolo G; Borrego S BMC Med Genet; 2011 Oct; 12():138. PubMed ID: 21995290 [TBL] [Abstract][Full Text] [Related]
13. Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. Tang CS; Gui H; Kapoor A; Kim JH; Luzón-Toro B; Pelet A; Burzynski G; Lantieri F; So MT; Berrios C; Shin HD; Fernández RM; Le TL; Verheij JB; Matera I; Cherny SS; Nandakumar P; Cheong HS; Antiñolo G; Amiel J; Seo JM; Kim DY; Oh JT; Lyonnet S; Borrego S; Ceccherini I; Hofstra RM; Chakravarti A; Kim HY; Sham PC; Tam PK; Garcia-Barceló MM Hum Mol Genet; 2016 Dec; 25(23):5265-5275. PubMed ID: 27702942 [TBL] [Abstract][Full Text] [Related]
14. Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations. Ngo DN; So MT; Gui H; Tran AQ; Bui DH; Cherny S; Tam PK; Nguyen TL; Garcia-Barcelo MM J Pediatr Surg; 2012 Oct; 47(10):1859-64. PubMed ID: 23084198 [TBL] [Abstract][Full Text] [Related]
15. Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant. Virtanen VB; Salo PP; Cao J; Löf-Granström A; Milani L; Metspalu A; Rintala RJ; Saarenpää-Heikkilä O; Paunio T; Wester T; Nordenskjöld A; Perola M; Pakarinen MP Eur J Med Genet; 2019 Apr; 62(4):229-234. PubMed ID: 30031151 [TBL] [Abstract][Full Text] [Related]
16. Effect of RET c.2307T>G Polymorphism on the Outcomes of Posterior Sagittal Neurectomy for Hirschsprung Disease Procedure in Indonesian Population. Rochadi ; Haryana SM; Sadewa AH; Gunadi Int Surg; 2014; 99(6):802-6. PubMed ID: 25437590 [TBL] [Abstract][Full Text] [Related]
17. Multiple, independent, common variants at RET, SEMA3 and NRG1 gut enhancers specify Hirschsprung disease risk in European ancestry subjects. Kapoor A; Nandakumar P; Auer DR; Sosa MX; Ross H; Bollinger J; Yan J; Berrios C; ; Chakravarti A J Pediatr Surg; 2021 Dec; 56(12):2286-2294. PubMed ID: 34006365 [TBL] [Abstract][Full Text] [Related]
18. Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms. Kapoor A; Jiang Q; Chatterjee S; Chakraborty P; Sosa MX; Berrios C; Chakravarti A Hum Mol Genet; 2015 May; 24(10):2997-3003. PubMed ID: 25666438 [TBL] [Abstract][Full Text] [Related]
19. A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression. Griseri P; Bachetti T; Puppo F; Lantieri F; Ravazzolo R; Devoto M; Ceccherini I Hum Mutat; 2005 Feb; 25(2):189-95. PubMed ID: 15643606 [TBL] [Abstract][Full Text] [Related]
20. RET 3'UTR polymorphisms and its protective role in Hirschsprung disease in southeastern Chinese. Pan ZW; Luo CF; Liu ZJ; Li JC J Pediatr Surg; 2012 Sep; 47(9):1699-705. PubMed ID: 22974609 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]