93 related articles for article (PubMed ID: 28975740)
1. Hirschsprung disease.
King SK; Karpelowsky J
ANZ J Surg; 2017 Oct; 87(10):754. PubMed ID: 28975740
[No Abstract] [Full Text] [Related]
2. Reduced endothelin-3 expression in sporadic Hirschsprung disease.
Kenny SE; Hofstra RM; Buys CH; Vaillant CR; Lloyd DA; Edgar DH
Br J Surg; 2000 May; 87(5):580-5. PubMed ID: 10792313
[TBL] [Abstract][Full Text] [Related]
3. [The role of ret gene in the pathogenesis of Hirschsprung disease].
Smigiel R; Patkowski D; Slezak R; Czernik J; Sasiadek M
Med Wieku Rozwoj; 2004; 8(3 Pt 2):663-75. PubMed ID: 15858239
[TBL] [Abstract][Full Text] [Related]
4. [Mutation and expression of WNT8b gene and SHH gene in Hirschsprung disease].
Gao H; Zhang ZB; Jiang ZJ; Wang DJ; Huang Y; Wang WL
Zhonghua Wei Chang Wai Ke Za Zhi; 2010 Oct; 13(10):758-61. PubMed ID: 20972907
[TBL] [Abstract][Full Text] [Related]
5. Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype.
Hofstra RM; Osinga J; Buys CH
Eur J Hum Genet; 1997; 5(4):180-5. PubMed ID: 9359036
[TBL] [Abstract][Full Text] [Related]
6. A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.
Hikita N; Hattori H; Kato M; Sakuma S; Morotomi Y; Ishida H; Seto T; Tanaka K; Shimono T; Shintaku H; Tokuhara D
Brain Dev; 2014 Feb; 36(2):159-62. PubMed ID: 23528852
[TBL] [Abstract][Full Text] [Related]
7. Identification of GLI Mutations in Patients With Hirschsprung Disease That Disrupt Enteric Nervous System Development in Mice.
Liu JA; Lai FP; Gui HS; Sham MH; Tam PK; Garcia-Barcelo MM; Hui CC; Ngan ES
Gastroenterology; 2015 Dec; 149(7):1837-1848.e5. PubMed ID: 26261006
[TBL] [Abstract][Full Text] [Related]
8. Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation.
Amiñoso C; García-Miñaúr S; Martínez L; Tenorio JA; Tovar JA; Lapunzina P; Solera J
Clin Genet; 2014 Apr; 85(4):401-2. PubMed ID: 23663121
[No Abstract] [Full Text] [Related]
9. Correction of Hirschsprung-Associated Mutations in Human Induced Pluripotent Stem Cells Via Clustered Regularly Interspaced Short Palindromic Repeats/Cas9, Restores Neural Crest Cell Function.
Lai FP; Lau ST; Wong JK; Gui H; Wang RX; Zhou T; Lai WH; Tse HF; Tam PK; Garcia-Barcelo MM; Ngan ES
Gastroenterology; 2017 Jul; 153(1):139-153.e8. PubMed ID: 28342760
[TBL] [Abstract][Full Text] [Related]
10. Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease.
Sangkhathat S; Chiengkriwate P; Kusafuka T; Patrapinyokul S; Fukuzawa M
Pediatr Surg Int; 2005 Dec; 21(12):960-3. PubMed ID: 16237557
[TBL] [Abstract][Full Text] [Related]
11. "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.
Zweier C; Albrecht B; Mitulla B; Behrens R; Beese M; Gillessen-Kaesbach G; Rott HD; Rauch A
Am J Med Genet; 2002 Mar; 108(3):177-81. PubMed ID: 11891681
[TBL] [Abstract][Full Text] [Related]
12. Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET.
Kjaer S; Ibáñez CF
Hum Mol Genet; 2003 Sep; 12(17):2133-44. PubMed ID: 12915470
[TBL] [Abstract][Full Text] [Related]
13. A Hirschsprung disease locus at 22q11?
Kerstjens-Frederikse WS; Hofstra RM; van Essen AJ; Meijers JH; Buys CH
J Med Genet; 1999 Mar; 36(3):221-4. PubMed ID: 10204849
[TBL] [Abstract][Full Text] [Related]
14. Hirschsprung disease associated with severe cartilage-hair hypoplasia.
Mäkitie O; Kaitila I; Rintala R
J Pediatr; 2001 Jun; 138(6):929-31. PubMed ID: 11391344
[TBL] [Abstract][Full Text] [Related]
15. Ileal atresia associated with Hirschsprung disease (total colonic aganglionosis).
Gupta M; Beeram MR; Pohl JF; Custer MD
J Pediatr Surg; 2005 Sep; 40(9):e5-7. PubMed ID: 16150333
[TBL] [Abstract][Full Text] [Related]
16. Endothelin receptor-mediated signaling in hirschsprung disease.
Chakravarti A
Hum Mol Genet; 1996 Mar; 5(3):303-7. PubMed ID: 8852653
[No Abstract] [Full Text] [Related]
17. [Hirschsprung disease. A receptor defect].
Fredholm BB
Lakartidningen; 1995 Apr; 92(16):1662-4. PubMed ID: 7723480
[No Abstract] [Full Text] [Related]
18. Hirschsprung-associated enterocolitis develops independently of NOD2 variants.
Lacher M; Fitze G; Helmbrecht J; Schroepf S; Berger M; Lohse P; Koletzko S; Ballauff A; Grote V; Goedeke J; von Schweinitz D; Kappler R
J Pediatr Surg; 2010 Sep; 45(9):1826-31. PubMed ID: 20850627
[TBL] [Abstract][Full Text] [Related]
19. MEN2 screening dilemmas in a family with a novel RET mutation in the MEN2 susceptibility region of the gene, a family history of Hirschsprung disease, and no family history of MEN2-related tumours.
Clowes VE; Shaw-Smith C; Simpson H; Ball SG; Acerini CL
Clin Endocrinol (Oxf); 2008 Apr; 68(4):666-7. PubMed ID: 17877758
[No Abstract] [Full Text] [Related]
20. Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease.
Syrris P; Carter ND; Patton MA
Am J Med Genet; 1999 Nov; 87(1):69-71. PubMed ID: 10528251
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
