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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
|
pubmed:dateCreated |
1993-9-30
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pubmed:abstractText |
A linkage analysis has been performed on 6 two-generation families with classical Noonan syndrome to determine whether the syndrome is linked to neurofibromatosis type 1 on chromosome 17q or to neurofibromatosis type 2 on chromosome 22q. A significantly negative location score was obtained between 10 cM centromeric to and 15 cM telomeric from the neurofibromatosis type 1 locus. A significantly negative lod score was obtained with a marker mapping within the region where neurofibromatosis type 2 is thought to be located. These data indicate that Noonan syndrome is not tightly linked to either neurofibromatosis type 1 or type 2.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
|
pubmed:issn |
0148-7299
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:day |
1
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pubmed:volume |
46
|
pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
700-5
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:8362913-Chromosome Mapping,
pubmed-meshheading:8362913-Chromosomes, Human, Pair 17,
pubmed-meshheading:8362913-Chromosomes, Human, Pair 22,
pubmed-meshheading:8362913-Female,
pubmed-meshheading:8362913-Genes, Neurofibromatosis 1,
pubmed-meshheading:8362913-Genes, Neurofibromatosis 2,
pubmed-meshheading:8362913-Genetic Linkage,
pubmed-meshheading:8362913-Humans,
pubmed-meshheading:8362913-Male,
pubmed-meshheading:8362913-Noonan Syndrome,
pubmed-meshheading:8362913-Pedigree,
pubmed-meshheading:8362913-Polymorphism, Genetic
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pubmed:year |
1993
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pubmed:articleTitle |
No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families.
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pubmed:affiliation |
Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM, Paris, France.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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