BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

255 related articles for article (PubMed ID: 9610803)

  • 1. Genotype-phenotype correlation in L1 associated diseases.
    Fransen E; Van Camp G; D'Hooge R; Vits L; Willems PJ
    J Med Genet; 1998 May; 35(5):399-404. PubMed ID: 9610803
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 3(5):273-84. PubMed ID: 8556302
    [TBL] [Abstract][Full Text] [Related]  

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

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. L1-associated diseases: clinical geneticists divide, molecular geneticists unite.
    Fransen E; Van Camp G; Vits L; Willems PJ
    Hum Mol Genet; 1997; 6(10):1625-32. PubMed ID: 9300653
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 92(1):40-6. PubMed ID: 10797421
    [TBL] [Abstract][Full Text] [Related]  

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

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 64(1):73-7. PubMed ID: 8826452
    [TBL] [Abstract][Full Text] [Related]  

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

  • 12. X linked hydrocephalus and MASA syndrome.
    Kenwrick S; Jouet M; Donnai D
    J Med Genet; 1996 Jan; 33(1):59-65. PubMed ID: 8825051
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cytoplasmic domain mutations of the L1 cell adhesion molecule reduce L1-ankyrin interactions.
    Needham LK; Thelen K; Maness PF
    J Neurosci; 2001 Mar; 21(5):1490-500. PubMed ID: 11222639
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 57(1):107-16. PubMed ID: 7645588
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 105(5 Suppl):403-12. PubMed ID: 17328266
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 19(8):559-62. PubMed ID: 9440802
    [TBL] [Abstract][Full Text] [Related]  

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

  • 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; 32(7):549-52. PubMed ID: 7562969
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Prenatal diagnosis in a family with X-linked hydrocephalus.
    Panayi M; Gokhale D; Mansour S; Elles R
    Prenat Diagn; 2005 Oct; 25(10):930-3. PubMed ID: 16088863
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.