Associated Papers
Parent-of-origin testing of prenatal copy number variations: a retrospective study of 167 family cases.
Liu Y et al.
Scientific Reports, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG1
L1cam alternative shorter transcripts encoding the extracellular domains were overexpressed in the intestine of L1cam knockdown mice.
Yang W et al.
Gene, 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Tran Mau-Them F et al.
Frontiers in Genetics, 2023
Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports.
Gao S et al.
Molecular Genetics & Genomic Medicine, 2022
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.
Bousquet I et al.
Neurogenetics, 2021
Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant.
Gauntner TD et al.
Clinical Case Reports, 2021
Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum.
Takenouchi T et al.
American Journal of Medical Genetics. Part A, 2012
CRASH syndrome: does it teach us about neurotrophic functions of cell adhesion molecules?
Zhang L
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2010
Expanding the phenotypic spectrum of L1CAM-associated disease.
Basel-Vanagaite L et al.
Clinical Genetics, 2006
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Weller S et al.
Human Mutation, 2001
Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.
Finckh U et al.
American Journal of Medical Genetics, 2000
Genotype-phenotype correlation in L1 associated diseases.
Fransen E et al.
Journal of Medical Genetics, 1998
L1-associated diseases: clinical geneticists divide, molecular geneticists unite.
Fransen E et al.
Human Molecular Genetics, 1997
Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.
Gu SM et al.
Journal of Medical Genetics, 1996
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