| pubmed-article:8057113 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8057113 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:8057113 | lifeskim:mentions | umls-concept:C0266463 | lld:lifeskim |
| pubmed-article:8057113 | lifeskim:mentions | umls-concept:C1848201 | lld:lifeskim |
| pubmed-article:8057113 | lifeskim:mentions | umls-concept:C0017342 | lld:lifeskim |
| pubmed-article:8057113 | lifeskim:mentions | umls-concept:C1704666 | lld:lifeskim |
| pubmed-article:8057113 | lifeskim:mentions | umls-concept:C1517892 | lld:lifeskim |
| pubmed-article:8057113 | lifeskim:mentions | umls-concept:C0205171 | lld:lifeskim |
| pubmed-article:8057113 | lifeskim:mentions | umls-concept:C0208973 | lld:lifeskim |
| pubmed-article:8057113 | pubmed:issue | 8 | lld:pubmed |
| pubmed-article:8057113 | pubmed:dateCreated | 1994-9-9 | lld:pubmed |
| pubmed-article:8057113 | pubmed:abstractText | Neuronal migration disorders can now be recognised by MRI. This paper reports two families in which the mothers had subcortical laminar heterotopia and four of their children had either similar heterotopia (two girls) or severe pachygyria or lissencephaly (two boys). Laminar heterotopia was more evident on MRI T2 weighted images. The patients had mild to severe epilepsy and mental retardation depending on the extent of cortical abnormalities. In these families, subcortical laminar heterotopia, pachygyria, and lissencephaly seem to share the same X linked or autosomal dominant gene. No chromosomal abnormalities, especially of chromosome 17, could be identified. For appropriate genetic counselling of the family of a child with lissencephaly or subcortical laminar heterotopia, MRI should be performed in parents or siblings with mental retardation or epilepsy. | lld:pubmed |
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| pubmed-article:8057113 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8057113 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8057113 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8057113 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8057113 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:8057113 | pubmed:issn | 0022-3050 | lld:pubmed |
| pubmed-article:8057113 | pubmed:author | pubmed-author:DulacOO | lld:pubmed |
| pubmed-article:8057113 | pubmed:author | pubmed-author:AndermannEE | lld:pubmed |
| pubmed-article:8057113 | pubmed:author | pubmed-author:MottoDD | lld:pubmed |
| pubmed-article:8057113 | pubmed:author | pubmed-author:BrianRR | lld:pubmed |
| pubmed-article:8057113 | pubmed:author | pubmed-author:PinardJ MJM | lld:pubmed |
| pubmed-article:8057113 | pubmed:author | pubmed-author:ChironCC | lld:pubmed |
| pubmed-article:8057113 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8057113 | pubmed:volume | 57 | lld:pubmed |
| pubmed-article:8057113 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8057113 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8057113 | pubmed:pagination | 914-20 | lld:pubmed |
| pubmed-article:8057113 | pubmed:dateRevised | 2011-11-17 | lld:pubmed |
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| pubmed-article:8057113 | pubmed:year | 1994 | lld:pubmed |
| pubmed-article:8057113 | pubmed:articleTitle | Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene. | lld:pubmed |
| pubmed-article:8057113 | pubmed:affiliation | Départment de Neuropédiatrie, Hôpital Saint Vincent de Paul, Paris, France. | lld:pubmed |
| pubmed-article:8057113 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8057113 | pubmed:publicationType | Case Reports | lld:pubmed |
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