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Journal Abstract Search

225 related items for 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
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  • 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
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  • 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
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  • 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 01; 92(1):40-6. PubMed ID: 10797421
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  • 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 01; 7(3):408-13. PubMed ID: 7920660
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  • 10. Prenatal diagnosis in a family with X-linked hydrocephalus.
    Panayi M, Gokhale D, Mansour S, Elles R.
    Prenat Diagn; 2005 Oct 01; 25(10):930-3. PubMed ID: 16088863
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  • 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 Oct 01; 3(5):273-84. PubMed ID: 8556302
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  • 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 01; 7(3):402-7. PubMed ID: 7920659
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  • 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 01; 164A(6):1555-8. PubMed ID: 24668863
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  • 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 01; 22(1):43-51. PubMed ID: 33415589
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  • 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 Mar 01; 11(3):222-30. PubMed ID: 9521424
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Stumpel C, Vos YJ.
    ; 1993 Mar 01. PubMed ID: 20301657
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