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2. 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]
3. 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]
4. 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]
5. 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]
6. Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset. McWhinney SR; Boru G; Binkley PK; Peczkowska M; Januszewicz AA; Neumann HP; Eng C J Clin Endocrinol Metab; 2003 Oct; 88(10):4911-6. PubMed ID: 14557473 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease. Griseri P; Pesce B; Patrone G; Osinga J; Puppo F; Sancandi M; Hofstra R; Romeo G; Ravazzolo R; Devoto M; Ceccherini I Am J Hum Genet; 2002 Oct; 71(4):969-74. PubMed ID: 12214285 [TBL] [Abstract][Full Text] [Related]
10. Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan. Wu TT; Tsai TW; Chu CT; Lee ZF; Hung CM; Su CC; Li SY; Hsieh M; Li C J Hum Genet; 2005; 50(4):168-174. PubMed ID: 15834508 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. RET polymorphisms and the risk of Hirschsprung's disease in a Chinese population. Liu C; Jin L; Li H; Lou J; Luo C; Zhou X; Li JC J Hum Genet; 2008; 53(9):825-833. PubMed ID: 18612588 [TBL] [Abstract][Full Text] [Related]
14. 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]
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. 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. Familial form of hirschsprung disease: nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes. Munnes M; Fanaei S; Schmitz B; Muiznieks I; Holschneider AM; Doerfler W Am J Med Genet; 2000 Sep; 94(1):19-27. PubMed ID: 10982477 [TBL] [Abstract][Full Text] [Related]
18. Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. Borrego S; Sáez ME; Ruiz A; Gimm O; López-Alonso M; Antiñolo G; Eng C J Med Genet; 1999 Oct; 36(10):771-4. PubMed ID: 10528857 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease. Griseri P; Sancandi M; Patrone G; Bocciardi R; Hofstra R; Ravazzolo R; Devoto M; Romeo G; Ceccherini I Eur J Hum Genet; 2000 Sep; 8(9):721-4. PubMed ID: 10980580 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]