BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

279 related articles for article (PubMed ID: 10618407)

  • 1. 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]  

  • 2. Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.
    Edery P; Pelet A; Mulligan LM; Abel L; Attié T; Dow E; Bonneau D; David A; Flintoff W; Jan D
    J Med Genet; 1994 Aug; 31(8):602-6. PubMed ID: 7815416
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Segregation at three loci explains familial and population risk in Hirschsprung disease.
    Gabriel SB; Salomon R; Pelet A; Angrist M; Amiel J; Fornage M; Attié-Bitach T; Olson JM; Hofstra R; Buys C; Steffann J; Munnich A; Lyonnet S; Chakravarti A
    Nat Genet; 2002 May; 31(1):89-93. PubMed ID: 11953745
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.
    Angrist M; Bolk S; Thiel B; Puffenberger EG; Hofstra RM; Buys CH; Cass DT; Chakravarti A
    Hum Mol Genet; 1995 May; 4(5):821-30. PubMed ID: 7633441
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Mutations of the RET proto-oncogene in Hirschsprung's disease.
    Edery P; Lyonnet S; Mulligan LM; Pelet A; Dow E; Abel L; Holder S; Nihoul-Fékété C; Ponder BA; Munnich A
    Nature; 1994 Jan; 367(6461):378-80. PubMed ID: 8114939
    [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. 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]  

  • 15. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.
    Doray B; Salomon R; Amiel J; Pelet A; Touraine R; Billaud M; Attié T; Bachy B; Munnich A; Lyonnet S
    Hum Mol Genet; 1998 Sep; 7(9):1449-52. PubMed ID: 9700200
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Mutations of RET proto-oncogene in Hirschsprung disease].
    Lyonnet S; Edery P; Mulligan LM; Pelet A; Dow E; Abel L; Holder S; Nihoul-Fékéte C; Ponder BA; Munnich A
    C R Acad Sci III; 1994 Apr; 317(4):358-62. PubMed ID: 8000915
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Fine mapping of the 9q31 Hirschsprung's disease locus.
    Tang CS; Sribudiani Y; Miao XP; de Vries AR; Burzynski G; So MT; Leon YY; Yip BH; Osinga J; Hui KJ; Verheij JB; Cherny SS; Tam PK; Sham PC; Hofstra RM; Garcia-Barceló MM
    Hum Genet; 2010 Jun; 127(6):675-83. PubMed ID: 20361209
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Mutational analysis of RET/GDNF/NTN genes in children with total colonic aganglionosis with small bowel involvement.
    Inoue K; Shimotake T; Iwai N
    Am J Med Genet; 2000 Aug; 93(4):278-84. PubMed ID: 10946353
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.