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Journal Abstract Search

160 related items for PubMed ID: 11057138

  • 1. [X-linked hydrocephalus syndrome].
    Okamoto N.
    Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):47-8. PubMed ID: 11057138
    [No Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule.
    Fransen E, Vits L, Van Camp G, Willems PJ.
    Am J Med Genet; 1996 Jul 12; 64(1):73-7. PubMed ID: 8826452
    [Abstract] [Full Text] [Related]

  • 5. 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 12; 9 Suppl 1():41-2. PubMed ID: 10661793
    [No Abstract] [Full Text] [Related]

  • 6. 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 12; 7(3):402-7. PubMed ID: 7920659
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 41(4):431-7. PubMed ID: 9088116
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 11(3):222-30. PubMed ID: 9521424
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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 Jan 13; 9(6):512-8. PubMed ID: 9195224
    [Abstract] [Full Text] [Related]

  • 12. 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 Jan 13; 12(4):259-66. PubMed ID: 9744477
    [Abstract] [Full Text] [Related]

  • 13. Familial congenital hydrocephalus and aqueduct stenosis with probably autosomal dominant inheritance and variable expression.
    Verhagen WI, Bartels RH, Fransen E, van Camp G, Renier WO, Grotenhuis JA.
    J Neurol Sci; 1998 Jun 11; 158(1):101-5. PubMed ID: 9667786
    [Abstract] [Full Text] [Related]

  • 14. [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 11; 36(3):462-6. PubMed ID: 8741350
    [Abstract] [Full Text] [Related]

  • 15. Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus.
    Rosenthal A, Jouet M, Kenwrick S.
    Nat Genet; 1992 Oct 11; 2(2):107-12. PubMed ID: 1303258
    [Abstract] [Full Text] [Related]

  • 16. 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 11; 3(5):273-84. PubMed ID: 8556302
    [Abstract] [Full Text] [Related]

  • 17. [X-linked hydrocephalus (Brickers-Adams syndrome). A case report confirmed by molecular genetic studies].
    Santos F, Temudo T.
    Rev Neurol; 1995 Oct 11; 31(11):1039-42. PubMed ID: 11190871
    [Abstract] [Full Text] [Related]

  • 18. Prenatal molecular diagnosis of L1-spectrum disorders.
    Finckh U, Gal A.
    Prenat Diagn; 2000 Sep 11; 20(9):744-5. PubMed ID: 11015704
    [No Abstract] [Full Text] [Related]

  • 19. The pachygyria-polymicrogyria spectrum of cortical dysplasia in X-linked hydrocephalus.
    Graf WD, Born DE, Sarnat HB.
    Eur J Pediatr Surg; 1998 Dec 11; 8 Suppl 1():10-4. PubMed ID: 9926316
    [Abstract] [Full Text] [Related]

  • 20. 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 Dec 11; Suppl 1():S284-7. PubMed ID: 9452110
    [No Abstract] [Full Text] [Related]

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