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Journal Abstract Search

275 related items for PubMed ID: 7920659

  • 1. 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
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  • 2. 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
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  • 3. 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 Jul; 12(4):259-66. PubMed ID: 9744477
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  • 4. Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families.
    Schrander-Stumpel C, Höweler C, Jones M, Sommer A, Stevens C, Tinschert S, Israel J, Fryns JP.
    Am J Med Genet; 1995 May 22; 57(1):107-16. PubMed ID: 7645588
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  • 7. Prenatal diagnosis in a family with X-linked hydrocephalus.
    Panayi M, Gokhale D, Mansour S, Elles R.
    Prenat Diagn; 2005 Oct 22; 25(10):930-3. PubMed ID: 16088863
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  • 9. The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.
    Schrander-Stumpel C, Meyer H, Merckx D, Jones M, Israel J, Sommer A, Stevens C, Tinschert S, Wilson G, Willems P.
    Genet Couns; 1994 Oct 22; 5(1):1-10. PubMed ID: 8031529
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  • 14. Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.
    De Angelis E, MacFarlane J, Du JS, Yeo G, Hicks R, Rathjen FG, Kenwrick S, Brümmendorf T.
    EMBO J; 1999 Sep 01; 18(17):4744-53. PubMed ID: 10469653
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  • 16. Novel mutations in the L1CAM gene support the complexity of L1 syndrome.
    Bertolin C, Boaretto F, Barbon G, Salviati L, Lapi E, Divizia MT, Garavelli L, Occhi G, Vazza G, Mostacciuolo ML.
    J Neurol Sci; 2010 Jul 15; 294(1-2):124-6. PubMed ID: 20447653
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  • 19. [The MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia and Adducted thumbs), is it heterogeneous?].
    Stoll C, Alembik Y, Pfindel M, Chauvin A, Hanauer A.
    Arch Fr Pediatr; 1993 Oct 15; 50(8):665-9. PubMed ID: 7516145
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