X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster.
|
24155914 |
2013 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells.
|
22973895 |
2013 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene.
|
22344793 |
2012 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.
|
19846429 |
2010 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms.
|
20621658 |
2010 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?
|
11857550 |
2002 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
X-linked hydrocephalus: a novel missense mutation in the L1CAM gene.
|
12435569 |
2002 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.
|
10797421 |
2000 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene.
|
9521424 |
1998 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
|
9744477 |
1998 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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.
|
9832035 |
1998 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait.
|
9268105 |
1997 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
|
9195224 |
1997 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.
|
8929944 |
1996 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
|
7562969 |
1995 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.
|
7762552 |
1995 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.
|
8556302 |
1995 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
|
7920659 |
1994 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.
|
7881431 |
1994 |
X-linked hydrocephalus syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)
|
8401576 |
1993 |
X-linked hydrocephalus syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|