Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel recurrent LIS1 splice site mutation in classic lissencephaly.

American journal of medical genetics. Part A - 1 Feb 2017

Philbert Marion, Maillard Camille, Cavallin Mara, Goldenberg Alice, Masson Cecile, Boddaert Nathalie, El Morjani Adrienne, Steffann Julie, Chelly Jamel, Gerard Xavier, Bahi-Buisson Nadia

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 1-Alkyl-2-acetylglycerophosphocholine Esterase
Share to Brain
Share to Gene Expression

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Introns

Share to Lissencephaly

Share to Magnetic Resonance Imaging

Share to Microtubule-Associated Proteins

Share to RNA Splice Sites

Source

Identifiers

PMID: 27891766
DOI: 10.1002/ajmg.a.38041

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel recurrent LIS1 splice site mutation in classic lissencephaly.PMID 27891766Read ↗

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).Semantic proximity Read ↗

Location and type of mutation in the LIS1 gene do not predict phenotypic severity.Semantic proximity Read ↗

LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.Semantic proximity Read ↗

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.Semantic proximity Read ↗

High frequency of genomic deletions—and a duplication—in the LIS1 gene in lissencephaly: implications for molecular diagnosisSemantic proximity Read ↗

Lissencephaly: Expanded imaging and clinical classification.Semantic proximity Read ↗

LIS1 duplication: expanding the phenotype.Semantic proximity Read ↗

Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia.Semantic proximity Read ↗

Causal heterogeneity in isolated lissencephalySemantic proximity Read ↗

Analysis of lissencephaly-causing LIS1 mutations.Semantic proximity Read ↗

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.Semantic proximity Read ↗

Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker SyndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.