397 related articles for article (PubMed ID: 15829955)
1. 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]
2. 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]
3. Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.
Burzynski GM; Nolte IM; Osinga J; Ceccherini I; Twigt B; Maas S; Brooks A; Verheij J; Plaza Menacho I; Buys CH; Hofstra RM
Eur J Hum Genet; 2004 Aug; 12(8):604-12. PubMed ID: 15138456
[TBL] [Abstract][Full Text] [Related]
4. Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).
Fitze G; Appelt H; König IR; Görgens H; Stein U; Walther W; Gossen M; Schreiber M; Ziegler A; Roesner D; Schackert HK
Hum Mol Genet; 2003 Dec; 12(24):3207-14. PubMed ID: 14600022
[TBL] [Abstract][Full Text] [Related]
5. A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.
Borrego S; Wright FA; Fernández RM; Williams N; López-Alonso M; Davuluri R; Antiñolo G; Eng C
Am J Hum Genet; 2003 Jan; 72(1):88-100. PubMed ID: 12474140
[TBL] [Abstract][Full Text] [Related]
6. Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249.
Fernandez RM; Boru G; Peciña A; Jones K; López-Alonso M; Antiñolo G; Borrego S; Eng C
J Med Genet; 2005 Apr; 42(4):322-7. PubMed ID: 15805159
[TBL] [Abstract][Full Text] [Related]
7. TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease.
Garcia-Barcelo M; Ganster RW; Lui VC; Leon TY; So MT; Lau AM; Fu M; Sham MH; Knight J; Zannini MS; Sham PC; Tam PK
Hum Mol Genet; 2005 Jan; 14(2):191-204. PubMed ID: 15548547
[TBL] [Abstract][Full Text] [Related]
8. A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling.
Moore SW; Zaahl MG
J Pediatr Surg; 2008 Feb; 43(2):325-9. PubMed ID: 18280283
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Hirschsprung, RET-SOX and beyond: the challenge of examining non-mendelian traits (Review).
Pusch CM; Sasiadek MM; Blin N
Int J Mol Med; 2002 Oct; 10(4):367-70. PubMed ID: 12239580
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease.
Fitze G; Schierz M; Kuhlisch E; Schreiber M; Ziegler A; Roesner D; Schackert HK
Hum Mutat; 2003 Aug; 22(2):177. PubMed ID: 12872262
[TBL] [Abstract][Full Text] [Related]
13. RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.
Borrego S; Ruiz A; Saez ME; Gimm O; Gao X; López-Alonso M; Hernández A; Wright FA; Antiñolo G; Eng C
J Med Genet; 2000 Aug; 37(8):572-8. PubMed ID: 10922382
[TBL] [Abstract][Full Text] [Related]
14. Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer.
Grice EA; Rochelle ES; Green ED; Chakravarti A; McCallion AS
Hum Mol Genet; 2005 Dec; 14(24):3837-45. PubMed ID: 16269442
[TBL] [Abstract][Full Text] [Related]
15. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
Attié T; Pelet A; Edery P; Eng C; Mulligan LM; Amiel J; Boutrand L; Beldjord C; Nihoul-Fékété C; Munnich A
Hum Mol Genet; 1995 Aug; 4(8):1381-6. PubMed ID: 7581377
[TBL] [Abstract][Full Text] [Related]
16. The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes.
Fernández RM; Antiñolo G; Eng C; Borrego S
Hum Mutat; 2003 Nov; 22(5):412-5. PubMed ID: 14517954
[No Abstract] [Full Text] [Related]
17. A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.
Bolk S; Pelet A; Hofstra RM; Angrist M; Salomon R; Croaker D; Buys CH; Lyonnet S; Chakravarti A
Proc Natl Acad Sci U S A; 2000 Jan; 97(1):268-73. PubMed ID: 10618407
[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. Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease.
Nishikawa M; Murakumo Y; Imai T; Kawai K; Nagaya M; Funahashi H; Nakao A; Takahashi M
Eur J Hum Genet; 2003 May; 11(5):364-8. PubMed ID: 12734540
[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]
