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Journal Abstract Search

231 related items for PubMed ID: 12239580

  • 1. 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
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  • 2. Discrepancy between macroscopic and microscopic transitional zones in Hirschsprung's disease with reference to the type of RET/GDNF/SOX10 gene mutation.
    Shimotake T, Tomiyama H, Aoi S, Iwai N.
    J Pediatr Surg; 2003 May; 38(5):698-701. PubMed ID: 12720173
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  • 3. 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
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  • 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
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  • 5. 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
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  • 7. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model.
    Southard-Smith EM, Kos L, Pavan WJ.
    Nat Genet; 1998 Jan; 18(1):60-4. PubMed ID: 9425902
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  • 11. [From monogenic to polygenic: model of Hirschsprung disease].
    Salomon R, Amiel J, Attié T, Pelet A, Munnich A, Lyonnet S.
    Pathol Biol (Paris); 1998 Nov; 46(9):705-7. PubMed ID: 9885824
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  • 14. Relationship between the type of RET/GDNF/NTN or SOX10 gene mutations and long-term results after surgery for total colonic aganglionosis with small bowel involvement.
    Tomiyama H, Shimotake T, Ono S, Kimura O, Tokiwa K, Iwai N.
    J Pediatr Surg; 2001 Nov; 36(11):1685-8. PubMed ID: 11685702
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  • 18. [Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy].
    Amiel J, Salomon R, Attié-Bitach T, Touraine R, Steffann J, Pelet A, Nihoul-Fékété C, Vekemans M, Munnich A, Lyonnet S.
    J Soc Biol; 2000 Nov; 194(3-4):125-8. PubMed ID: 11324313
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  • 19. 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
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  • 20. Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case.
    Kanai M, Numakura C, Sasaki A, Shirahata E, Akaba K, Hashimoto M, Hasegawa H, Shirasawa S, Hayasaka K.
    Tohoku J Exp Med; 2002 Apr; 196(4):241-6. PubMed ID: 12086152
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