184 related articles for article (PubMed ID: 21995290)
1. 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]
2. Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
Emison ES; Garcia-Barcelo M; Grice EA; Lantieri F; Amiel J; Burzynski G; Fernandez RM; Hao L; Kashuk C; West K; Miao X; Tam PK; Griseri P; Ceccherini I; Pelet A; Jannot AS; de Pontual L; Henrion-Caude A; Lyonnet S; Verheij JB; Hofstra RM; Antiñolo G; Borrego S; McCallion AS; Chakravarti A
Am J Hum Genet; 2010 Jul; 87(1):60-74. PubMed ID: 20598273
[TBL] [Abstract][Full Text] [Related]
3. 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]
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. 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]
6. 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]
7. Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients.
Zhang Z; Jiang Q; Li Q; Cheng W; Qiao G; Xiao P; Gan L; Su L; Miao C; Li L
Int J Clin Exp Pathol; 2015; 8(5):5528-34. PubMed ID: 26191260
[TBL] [Abstract][Full Text] [Related]
8. RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease.
Vaclavikova E; Dvorakova S; Skaba R; Pos L; Sykorova V; Halkova T; Vcelak J; Bendlova B
PLoS One; 2014; 9(6):e98957. PubMed ID: 24897126
[TBL] [Abstract][Full Text] [Related]
9. RET and NRG1 interplay in Hirschsprung disease.
Gui H; Tang WK; So MT; Proitsi P; Sham PC; Tam PK; Ngan ES; Cherny SS; Garcia-Barceló MM
Hum Genet; 2013 May; 132(5):591-600. PubMed ID: 23400839
[TBL] [Abstract][Full Text] [Related]
10. RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.
So MT; Leon TY; Cheng G; Tang CS; Miao XP; Cornes BK; Diem NN; Cui L; Ngan ES; Lui VC; Wu XZ; Wang B; Wang H; Yuan ZW; Huang LM; Li L; Xia H; Zhu D; Liu J; Nguyen TL; Chan IH; Chung PH; Liu XL; Zhang R; Wong KK; Sham PC; Cherny SS; Tam PK; Garcia-Barcelo MM
PLoS One; 2011; 6(12):e28986. PubMed ID: 22174939
[TBL] [Abstract][Full Text] [Related]
11. Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.
de Pontual L; Pelet A; Trochet D; Jaubert F; Espinosa-Parrilla Y; Munnich A; Brunet JF; Goridis C; Feingold J; Lyonnet S; Amiel J
J Med Genet; 2006 May; 43(5):419-23. PubMed ID: 16443855
[TBL] [Abstract][Full Text] [Related]
12. Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.
Arnold S; Pelet A; Amiel J; Borrego S; Hofstra R; Tam P; Ceccherini I; Lyonnet S; Sherman S; Chakravarti A
Hum Mutat; 2009 May; 30(5):771-5. PubMed ID: 19306335
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.
Emison ES; McCallion AS; Kashuk CS; Bush RT; Grice E; Lin S; Portnoy ME; Cutler DJ; Green ED; Chakravarti A
Nature; 2005 Apr; 434(7035):857-63. PubMed ID: 15829955
[TBL] [Abstract][Full Text] [Related]
17. Within-gene interaction between c.135 G/A genotypes and RET proto-oncogene germline mutations in HSCR families.
Fitze G; Cramer J; Serra A; Schreiber M; Roesner D; Schackert HK
Eur J Pediatr Surg; 2003 Jun; 13(3):152-7. PubMed ID: 12939698
[TBL] [Abstract][Full Text] [Related]
18. Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease.
Basel-Vanagaite L; Pelet A; Steiner Z; Munnich A; Rozenbach Y; Shohat M; Lyonnet S
Eur J Hum Genet; 2007 Feb; 15(2):242-5. PubMed ID: 17091122
[TBL] [Abstract][Full Text] [Related]
19. Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.
de Pontual L; Pelet A; Clement-Ziza M; Trochet D; Antonarakis SE; Attie-Bitach T; Beales PL; Blouin JL; Dastot-Le Moal F; Dollfus H; Goossens M; Katsanis N; Touraine R; Feingold J; Munnich A; Lyonnet S; Amiel J
Hum Mutat; 2007 Aug; 28(8):790-6. PubMed ID: 17397038
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]