Associated Papers
Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.
Feng WX et al.
Seizure, 2024
Missed diagnosis of lissencephaly after prenatal diagnosis: A case report.
Liu M et al.
Medicine, 2023
Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.
Simoes C et al.
Bmc Pediatrics, 2022
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Di Donato N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29671837 (PubMed )
Supplement: NIHMS934304-supplement-Supplementary_table_2.pdf
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.
Friocourt G et al.
Acta Neuropathologica, 2011
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Cardoso C et al.
Human Mutation, 2002
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Cardoso C et al.
Human Molecular Genetics, 2000
Analysis of lissencephaly-causing LIS1 mutations.
Sapir T et al.
European Journal of Biochemistry, 1999
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
Lo Nigro C et al.
Human Molecular Genetics, 1997
Select a paper to view details