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Journal Abstract Search

179 related items for PubMed ID: 9088116

  • 1. 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
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  • 2. 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 Dec; 11(3):222-30. PubMed ID: 9521424
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  • 4. 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 Dec; 12(4):259-66. PubMed ID: 9744477
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  • 5. Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
    MacFarlane JR, Du JS, Pepys ME, Ramsden S, Donnai D, Charlton R, Garrett C, Tolmie J, Yates JR, Berry C, Goudie D, Moncla A, Lunt P, Hodgson S, Jouet M, Kenwrick S.
    Hum Mutat; 1997 Dec; 9(6):512-8. PubMed ID: 9195224
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  • 10. [A family with X-linked hydrocephalus resulting from mutations in the neural cell adhesion molecule L1].
    Maruta K, Ohi T, Ohdo S, Takechi T, Sakuragawa N, Matsukura S.
    Rinsho Shinkeigaku; 1996 Mar; 36(3):462-6. PubMed ID: 8741350
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  • 11. Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus.
    Du JS, Bason L, Woffendin H, Zackai E, Kenwrick S.
    Am J Med Genet; 1998 Jan 13; 75(2):200-2. PubMed ID: 9450886
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  • 13. 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 13; 9 Suppl 1():41-2. PubMed ID: 10661793
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  • 14. Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus.
    Graf WD, Born DE, Shaw DW, Thomas JR, Holloway LW, Michaelis RC.
    Ann Neurol; 2000 Jan 13; 47(1):113-7. PubMed ID: 10632110
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  • 16. 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 13; 7(3):408-13. PubMed ID: 7920660
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  • 17. 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 13; 12(12):742-7. PubMed ID: 9118141
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  • 18. 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 13; 35(6):456-62. PubMed ID: 9643285
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  • 20. 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 13; 97(3):353-6. PubMed ID: 8786080
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