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Article

Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Pilz D T, Macha M E, Precht K S, Smith A C, Dobyns W B, Ledbetter D H

Abstract excerpt

PURPOSE: Recent revision of the lissencephaly critical region on chromosome 17p13.3 and confirmation of LIS1 as the causative gene for classical lissencephaly has allowed the development and application of fluorescence in situ hybridization (FISH) probes corresponding directly to this gene. METHOD: We have analyzed patients with isolated lissencephaly sequence (ILS) by FISH with probes at D17S379, an anonymous...

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Identifiers

PMID: 11261426
DOI: 10.1097/00125817-199811000-00007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.PMID 11261426Read ↗

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