These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 9279760)

  • 1. Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.
    Okamoto N; Wada Y; Goto M
    J Med Genet; 1997 Aug; 34(8):670-1. PubMed ID: 9279760
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.
    Okamoto N; Del Maestro R; Valero R; Monros E; Poo P; Kanemura Y; Yamasaki M
    J Hum Genet; 2004; 49(6):334-337. PubMed ID: 15148591
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus.
    Okamoto N; Wada Y; Kawabata H; Ishikiriyama S; Takahashi S
    Jpn J Hum Genet; 1996 Dec; 41(4):431-7. PubMed ID: 9088116
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?
    Parisi MA; Kapur RP; Neilson I; Hofstra RM; Holloway LW; Michaelis RC; Leppig KA
    Am J Med Genet; 2002 Feb; 108(1):51-6. PubMed ID: 11857550
    [TBL] [Abstract][Full Text] [Related]  

  • 5. L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease.
    Jackson SR; Guner YS; Woo R; Randolph LM; Ford H; Shin CE
    Pediatr Surg Int; 2009 Sep; 25(9):823-5. PubMed ID: 19641926
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait.
    Gu SM; Orth U; Zankl M; Schröder J; Gal A
    Am J Med Genet; 1997 Aug; 71(3):336-40. PubMed ID: 9268105
    [TBL] [Abstract][Full Text] [Related]  

  • 7. L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling.
    Takahashi S; Makita Y; Okamoto N; Miyamoto A; Oki J
    Brain Dev; 1997 Dec; 19(8):559-62. PubMed ID: 9440802
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Brainstem diffusion-weighted MRI in boys with L1CAM mutations.
    Graf WD; Born DE; Shaw DW; Thomas JR; Holloway LW; Michaelis RC
    Eur J Pediatr Surg; 1999 Dec; 9 Suppl 1():41-2. PubMed ID: 10661793
    [No Abstract]   [Full Text] [Related]  

  • 9. A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).
    Du YZ; Dickerson C; Aylsworth AS; Schwartz CE
    J Med Genet; 1998 Jun; 35(6):456-62. PubMed ID: 9643285
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene.
    Fernández RM; Núñez-Torres R; García-Díaz L; de Agustín JC; Antiñolo G; Borrego S
    Am J Med Genet A; 2012 Apr; 158A(4):816-20. PubMed ID: 22344793
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).
    Griseri P; Vos Y; Giorda R; Gimelli S; Beri S; Santamaria G; Mognato G; Hofstra RM; Gimelli G; Ceccherini I
    Eur J Hum Genet; 2009 Apr; 17(4):483-90. PubMed ID: 19300444
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
    Weller S; Gärtner J
    Hum Mutat; 2001; 18(1):1-12. PubMed ID: 11438988
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.
    Gu SM; Orth U; Veske A; Enders H; Klunder K; Schlosser M; Engel W; Schwinger E; Gal A
    J Med Genet; 1996 Feb; 33(2):103-6. PubMed ID: 8929944
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A duplication in the L1CAM gene associated with X-linked hydrocephalus.
    Van Camp G; Vits L; Coucke P; Lyonnet S; Schrander-Stumpel C; Darby J; Holden J; Munnich A; Willems PJ
    Nat Genet; 1993 Aug; 4(4):421-5. PubMed ID: 8401593
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A new mutation of the L1CAM gene in an X-linked hydrocephalus family.
    Izumoto S; Yamasaki M; Arita N; Hiraga S; Ohnishi T; Fujitani K; Sakoda S; Hayakawa T
    Childs Nerv Syst; 1996 Dec; 12(12):742-7. PubMed ID: 9118141
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.
    Finckh U; Schröder J; Ressler B; Veske A; Gal A
    Am J Med Genet; 2000 May; 92(1):40-6. PubMed ID: 10797421
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review.
    Nakakimura S; Sasaki F; Okada T; Arisue A; Cho K; Yoshino M; Kanemura Y; Yamasaki M; Todo S
    J Pediatr Surg; 2008 May; 43(5):E13-7. PubMed ID: 18485929
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.
    Michaelis RC; Du YZ; Schwartz CE
    J Med Genet; 1998 Nov; 35(11):901-4. PubMed ID: 9832035
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum.
    Takenouchi T; Nakazawa M; Kanemura Y; Shimozato S; Yamasaki M; Takahashi T; Kosaki K
    Am J Med Genet A; 2012 Apr; 158A(4):812-5. PubMed ID: 22354677
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression.
    De Angelis E; Watkins A; Schäfer M; Brümmendorf T; Kenwrick S
    Hum Mol Genet; 2002 Jan; 11(1):1-12. PubMed ID: 11772994
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.