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X linked hydrocephalus and MASA syndrome

published in: Journal of Medical Genetics

date of publication: 1996-01-01

language: English

main subject: hydrocephalus, L1 syndrome

Cites articles 74

Date

Title

Authors

1995-04-01

Mutations in the cell adhesion molecule L1 cause mental retardation

Vance P. Lemmon
1995-06

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome
1995-07-01

Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
1995-01-01

Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus
1994-02-01

Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.

David T. Bonthron
1994-05-13

Many of the immunoglobulin superfamily domains in cell adhesion molecules and surface receptors belong to a new structural set which is close to that containing variable domains

Cyrus Chothia
1994-04-01

Clinical aspects of the MASA syndrome in a large family, including expressing females.
1994-11-01

Ankyrin binding activity shared by the neurofascin/L1/NrCAM family of nervous system cell adhesion molecules
1994-07

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
1994-09-01

Activation of the FGF receptor underlies neurite outgrowth stimulated by L1, N-CAM, and N-cadherin
1994-11-01

YAC contig organization and CpG island analysis in Xq28.

Giuseppe Palmieri
1994-12-01

X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene
1994-12-01

Interactions of the chondroitin sulfate proteoglycan phosphacan, the extracellular domain of a receptor-type protein tyrosine phosphatase, with neurons, glia, and neural cell adhesion molecules
1994-01-01

The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.
1994-07-01

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM

Guy Van Camp
1994-04-01

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family

Guy Van Camp, Stanislas Lyonnet
1994-03-01

TAG-1 can mediate homophilic binding, but neurite outgrowth on TAG-1 requires an L1-like molecule and beta 1 integrins

Andrew Furley
1993-03-01

Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
1993-08-01

A duplication in the L1CAM gene associated with X-linked hydrocephalus.

Stanislas Lyonnet, Arnold Munnich
1993-10-01

Agenesis of the corpus callosum associated with MASA syndrome.
1993-04-01

The axonal recognition molecule F11 is a multifunctional protein: specific domains mediate interactions with Ng-CAM and restrictin
1993-11-01

Several extracellular domains of the neural cell adhesion molecule L1 are involved in neurite outgrowth and cell body adhesion.

Melitta Schachner
1993-09-01

Evidence for the binding of Ng-CAM to laminin
1993-08-01

A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)
1993-03-01

Prenatal diagnosis of X-linked hydrocephalus
1992-01-01

Cell Type-specific Effects of the Neural Adhesion Molecules L1 and N-CAM on Diverse Second Messenger Systems
1992-08-01

Further localization of X-linked hydrocephalus in the chromosomal region Xq28
1992-01-01

Variants of human L1 cell adhesion molecule arise through alternate splicing of RNA.
1992-01-01

Completion of the physical map of Xq28: the location of the gene for L1CAM on the human X chromosome
1992-04-01

Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28.
1992-04-01

MASA syndrome: delineation of the clinical spectrum at prepubertal age.
1992-05-01

Expression and function of the neural cell adhesion molecule L1 in mouse leukocytes

Melitta Schachner

Article - wd:Q33683093

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