ArticleHuman genetics1991
Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.
Article in Human genetics, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Syndromes with lissencephaly.Journal of medical genetics · 1996Review
- Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism.Journal of medical genetics · 1995Article
- Submicroscopic deletions of 17p13.3 in type 1 Lissencephaly.Human genetics · 1994Article
- Genetic factors in lissencephaly syndromes: a review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 1993Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DNA markers YNZ22.1, YNH37.3, 144D6 and VAW508 were studied in a patient with the isolated lissencephaly sequence (ILS). A normal karyotype was found in the patient. The DNA of the patient showed deletions of markers YNZ22.1 and YNH37.3. This is the first report of a case of ILS (with grade 3 lissencephaly) with a submicroscopic deletion. The presence of a microdeletion in 17p13 in an ILS patient indicates that Miller-Dieker syndrome and ILS have a common etiology.
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