Discover Community Create You

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

Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly.

Clinical genetics - 1 Dec 2006

Chabchoub E, de Ravel T, Thoelen R, Vermeesch J R, Fryns J-P, Van Esch H

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 Belgium
Share to Brain
Share to Child
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Disorders

Share to Chromosomes, Human, Pair 17

Share to In Situ Hybridization, Fluorescence

Share to Nucleic Acid Hybridization

Source

Identifiers

PMID: 17101002
DOI: 10.1111/j.1399-0004.2006.00718.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly.PMID 17101002Read ↗

17p13.1 microdeletion: genetic and clinical findings in a new patient with epilepsy and comparison with literature.Semantic proximity Read ↗

Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3).Semantic proximity Read ↗

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

Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation.Semantic proximity Read ↗

Novel microdeletion syndromes.Semantic proximity Read ↗

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13Semantic proximity Read ↗

Phenotypes of 8q13.2-q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome.Semantic proximity Read ↗

Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3.Semantic proximity Read ↗

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.Semantic proximity Read ↗

Causal heterogeneity in isolated lissencephalySemantic proximity Read ↗

8p21 microdeletion in a patient with intellectual disability and behavioral abnormalities.Semantic proximity Read ↗

A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene.Semantic proximity Read ↗

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