490 related articles for article (PubMed ID: 29601828)
1. 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]
2. De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.
Ivanchuk SM; Myers SM; Eng C; Mulligan LM
Hum Mol Genet; 1996 Dec; 5(12):2023-6. PubMed ID: 8968758
[TBL] [Abstract][Full Text] [Related]
3. Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.
Salomon R; Attié T; Pelet A; Bidaud C; Eng C; Amiel J; Sarnacki S; Goulet O; Ricour C; Nihoul-Fékété C; Munnich A; Lyonnet S
Nat Genet; 1996 Nov; 14(3):345-7. PubMed ID: 8896569
[TBL] [Abstract][Full Text] [Related]
4. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.
Angrist M; Bolk S; Halushka M; Lapchak PA; Chakravarti A
Nat Genet; 1996 Nov; 14(3):341-4. PubMed ID: 8896568
[TBL] [Abstract][Full Text] [Related]
5. Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease.
Ruiz-Ferrer M; Torroglosa A; Luzón-Toro B; Fernández RM; Antiñolo G; Mulligan LM; Borrego S
J Mol Med (Berl); 2011 May; 89(5):471-80. PubMed ID: 21206993
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.
Ruiz-Ferrer M; Torroglosa A; Núñez-Torres R; de Agustín JC; Antiñolo G; Borrego S
PLoS One; 2011; 6(8):e23475. PubMed ID: 21858136
[TBL] [Abstract][Full Text] [Related]
8. RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.
Hofstra RM; Wu Y; Stulp RP; Elfferich P; Osinga J; Maas SM; Siderius L; Brooks AS; vd Ende JJ; Heydendael VM; Severijnen RS; Bax KM; Meijers C; Buys CH
Hum Mutat; 2000; 15(5):418-29. PubMed ID: 10790203
[TBL] [Abstract][Full Text] [Related]
9. Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes.
Schriemer D; Sribudiani Y; IJpma A; Natarajan D; MacKenzie KC; Metzger M; Binder E; Burns AJ; Thapar N; Hofstra RMW; Eggen BJL
Dev Biol; 2016 Aug; 416(1):255-265. PubMed ID: 27266404
[TBL] [Abstract][Full Text] [Related]
10. Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype.
Cheng WW; Tang CS; Gui HS; So MT; Lui VC; Tam PK; Garcia-Barcelo MM
World J Gastroenterol; 2015 Feb; 21(7):2040-6. PubMed ID: 25717236
[TBL] [Abstract][Full Text] [Related]
11. Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease.
Vanhorne JB; Gimm O; Myers SM; Kaushik A; von Deimling A; Eng C; Mulligan LM
Hum Genet; 2001 May; 108(5):409-15. PubMed ID: 11409869
[TBL] [Abstract][Full Text] [Related]
12. Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in 80 patients with Hirschsprung disease (using multiplex ligation-dependent probe amplification).
Serra A; Görgens H; Alhadad K; Ziegler A; Fitze G; Schackert HK
Ann Hum Genet; 2009 Mar; 73(2):147-51. PubMed ID: 19183406
[TBL] [Abstract][Full Text] [Related]
13. Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.
Gath R; Goessling A; Keller KM; Koletzko S; Coerdt W; Müntefering H; Wirth S; Hofstra RM; Mulligan L; Eng C; von Deimling A
Gut; 2001 May; 48(5):671-5. PubMed ID: 11302967
[TBL] [Abstract][Full Text] [Related]
14. Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.
Geneste O; Bidaud C; De Vita G; Hofstra RM; Tartare-Deckert S; Buys CH; Lenoir GM; Santoro M; Billaud M
Hum Mol Genet; 1999 Oct; 8(11):1989-99. PubMed ID: 10484767
[TBL] [Abstract][Full Text] [Related]
15. Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility.
Angrist M; Jing S; Bolk S; Bentley K; Nallasamy S; Halushka M; Fox GM; Chakravarti A
Genomics; 1998 Mar; 48(3):354-62. PubMed ID: 9545641
[TBL] [Abstract][Full Text] [Related]
16. Hirschsprung's disease as a model of complex genetic etiology.
Borrego S; Ruiz-Ferrer M; Fernández RM; Antiñolo G
Histol Histopathol; 2013 Sep; 28(9):1117-36. PubMed ID: 23605783
[TBL] [Abstract][Full Text] [Related]
17. Characterisation of the human GFRalpha-3 locus and investigation of the gene in Hirschsprung disease.
Onochie CI; Korngut LM; Vanhorne JB; Myers SM; Michaud D; Mulligan LM
J Med Genet; 2000 Sep; 37(9):674-9. PubMed ID: 10978357
[TBL] [Abstract][Full Text] [Related]
18. Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.
Jiang Q; Arnold S; Heanue T; Kilambi KP; Doan B; Kapoor A; Ling AY; Sosa MX; Guy M; Jiang Q; Burzynski G; West K; Bessling S; Griseri P; Amiel J; Fernandez RM; Verheij JB; Hofstra RM; Borrego S; Lyonnet S; Ceccherini I; Gray JJ; Pachnis V; McCallion AS; Chakravarti A
Am J Hum Genet; 2015 Apr; 96(4):581-96. PubMed ID: 25839327
[TBL] [Abstract][Full Text] [Related]
19. Multiple functional effects of RET kinase domain sequence variants in Hirschsprung disease.
Hyndman BD; Gujral TS; Krieger JR; Cockburn JG; Mulligan LM
Hum Mutat; 2013 Jan; 34(1):132-42. PubMed ID: 22837065
[TBL] [Abstract][Full Text] [Related]
20. A Novel Zebrafish ret Heterozygous Model of Hirschsprung Disease Identifies a Functional Role for mapk10 as a Modifier of Enteric Nervous System Phenotype Severity.
Heanue TA; Boesmans W; Bell DM; Kawakami K; Vanden Berghe P; Pachnis V
PLoS Genet; 2016 Nov; 12(11):e1006439. PubMed ID: 27902697
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
