Condition: MASA SYNDROME (disorder)


rs137852519 in L1CAM gene and MASA SYNDROME (disorder) PMID 19846429 2010 Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.

PMID 16816908 2006 A novel missense mutation in the L1CAM gene in a boy with L1 disease.

PMID 10797421 2000 Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.

PMID 10805190 2000 Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus.

PMID 9300653 1997 L1-associated diseases: clinical geneticists divide, molecular geneticists unite.

PMID 9521424 1998 Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene.

PMID 11857550 2002 Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?

PMID 7762552 1995 New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

PMID 9832035 1998 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.

PMID 9268105 1997 Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait.

PMID 7920659 1994 X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.

PMID 9452110 1998 Evidence for somatic and germline mosaicism in CRASH syndrome.

PMID 26891472 2017 L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.

PMID 8556302 1995 CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.

PMID 22344793 2012 Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene.

PMID 7881431 1994 X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.

PMID 7920660 1994 MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

PMID 22973895 2013 L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells.

PMID 24155914 2013 Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster.

PMID 9744477 1998 Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.