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Journal Abstract Search

252 related items for PubMed ID: 9610803

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  • 4. CRASH syndrome: mutations in L1CAM correlate with severity of the disease.
    Yamasaki M, Thompson P, Lemmon V.
    Neuropediatrics; 1997 Jun; 28(3):175-8. PubMed ID: 9266556
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  • 8. 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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  • 9. 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
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  • 11. Evidence for somatic and germline mosaicism in CRASH syndrome.
    Vits L, Chitayat D, Van Camp G, Holden JJ, Fransen E, Willems PJ.
    Hum Mutat; 1998 Nov; Suppl 1():S284-7. PubMed ID: 9452110
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  • 13. 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
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  • 15. 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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  • 16. Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.
    Kanemura Y, Okamoto N, Sakamoto H, Shofuda T, Kamiguchi H, Yamasaki M.
    J Neurosurg; 2006 Nov 22; 105(5 Suppl):403-12. PubMed ID: 17328266
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  • 17. 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 22; 19(8):559-62. PubMed ID: 9440802
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  • 18. 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 22; 7(3):402-7. PubMed ID: 7920659
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  • 19. Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
    Ruiz JC, Cuppens H, Legius E, Fryns JP, Glover T, Marynen P, Cassiman JJ.
    J Med Genet; 1995 Jul 22; 32(7):549-52. PubMed ID: 7562969
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