BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

229 related articles for article (PubMed ID: 9643285)

  • 1. 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]  

  • 2. 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]  

  • 3. A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus.
    Takechi T; Tohyama J; Kurashige T; Maruta K; Uyemura K; Ohi T; Matsukura S; Sakuragawa N
    Hum Genet; 1996 Mar; 97(3):353-6. PubMed ID: 8786080
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
    Saugier-Veber P; Martin C; Le Meur N; Lyonnet S; Munnich A; David A; Hénocq A; Héron D; Jonveaux P; Odent S; Manouvrier S; Moncla A; Morichon N; Philip N; Satge D; Tosi M; Frébourg T
    Hum Mutat; 1998; 12(4):259-66. PubMed ID: 9744477
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genotype-phenotype correlation in L1 associated diseases.
    Fransen E; Van Camp G; D'Hooge R; Vits L; Willems PJ
    J Med Genet; 1998 May; 35(5):399-404. PubMed ID: 9610803
    [TBL] [Abstract][Full Text] [Related]  

  • 7. L1-associated diseases: clinical geneticists divide, molecular geneticists unite.
    Fransen E; Van Camp G; Vits L; Willems PJ
    Hum Mol Genet; 1997; 6(10):1625-32. PubMed ID: 9300653
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
    Vits L; Van Camp G; Coucke P; Fransen E; De Boulle K; Reyniers E; Korn B; Poustka A; Wilson G; Schrander-Stumpel C
    Nat Genet; 1994 Jul; 7(3):408-13. PubMed ID: 7920660
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prenatal diagnosis in a family with X-linked hydrocephalus.
    Panayi M; Gokhale D; Mansour S; Elles R
    Prenat Diagn; 2005 Oct; 25(10):930-3. PubMed ID: 16088863
    [TBL] [Abstract][Full Text] [Related]  

  • 11. CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.
    Fransen E; Lemmon V; Van Camp G; Vits L; Coucke P; Willems PJ
    Eur J Hum Genet; 1995; 3(5):273-84. PubMed ID: 8556302
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
    Jouet M; Rosenthal A; Armstrong G; MacFarlane J; Stevenson R; Paterson J; Metzenberg A; Ionasescu V; Temple K; Kenwrick S
    Nat Genet; 1994 Jul; 7(3):402-7. PubMed ID: 7920659
    [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. L1CAM whole gene deletion in a child with L1 syndrome.
    Chidsey BA; Baldwin EE; Toydemir R; Ahles L; Hanson H; Stevenson DA
    Am J Med Genet A; 2014 Jun; 164A(6):1555-8. PubMed ID: 24668863
    [TBL] [Abstract][Full Text] [Related]  

  • 16. X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.
    Bousquet I; Bozon M; Castellani V; Touraine R; Piton A; Gérard B; Guibaud L; Sanlaville D; Edery P; Saugier-Veber P; Putoux A
    Neurogenetics; 2021 Mar; 22(1):43-51. PubMed ID: 33415589
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus.
    Sztriha L; Frossard P; Hofstra RM; Verlind E; Nork M
    J Child Neurol; 2000 Apr; 15(4):239-43. PubMed ID: 10805190
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene.
    Du YZ; Srivastava AK; Schwartz CE
    Hum Mutat; 1998; 11(3):222-30. PubMed ID: 9521424
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.