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rdf:type |
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lifeskim:mentions |
umls-concept:C0007634,
umls-concept:C0012893,
umls-concept:C0020205,
umls-concept:C0040715,
umls-concept:C0206115,
umls-concept:C0439849,
umls-concept:C0445223,
umls-concept:C0694898,
umls-concept:C0936012,
umls-concept:C1418276,
umls-concept:C1442161,
umls-concept:C1552599,
umls-concept:C1704667,
umls-concept:C1704787,
umls-concept:C2698687
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|
pubmed:issue |
1
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pubmed:dateCreated |
1988-3-10
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|
pubmed:abstractText |
We used the fluorescence-activated cell sorter (FACS) to select a series of somatic cell hybrids with deleted or translocated chromosome 11 segregated from its normal homolog. Analysis of these cell hybrids with gene-specific probes and for cell-surface marker expression has allowed us to order the markers and define a smallest region of overlap (SRO) for deletions associated with the WAGR (Wilms' tumor, aniridia, genitourinary abnormalities, and mental retardation) region of chromosome 11. Two translocation breakpoints in 11p13 (one associated with familial aniridia and one with a sporadic case of congenital renal dysfunction resulting from urethral and ureteral atresia) map within this SRO.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0740-7750
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
14
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
21-30
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:2829363-Animals,
pubmed-meshheading:2829363-Cell Separation,
pubmed-meshheading:2829363-Chromosome Banding,
pubmed-meshheading:2829363-Chromosome Deletion,
pubmed-meshheading:2829363-Chromosomes, Human, Pair 11,
pubmed-meshheading:2829363-DNA,
pubmed-meshheading:2829363-Flow Cytometry,
pubmed-meshheading:2829363-Genetic Markers,
pubmed-meshheading:2829363-Humans,
pubmed-meshheading:2829363-Hybrid Cells,
pubmed-meshheading:2829363-Intellectual Disability,
pubmed-meshheading:2829363-Iris,
pubmed-meshheading:2829363-Karyotyping,
pubmed-meshheading:2829363-Kidney Neoplasms,
pubmed-meshheading:2829363-Mice,
pubmed-meshheading:2829363-Syndrome,
pubmed-meshheading:2829363-Translocation, Genetic,
pubmed-meshheading:2829363-Urogenital Abnormalities,
pubmed-meshheading:2829363-Wilms Tumor
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pubmed:year |
1988
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pubmed:articleTitle |
Analysis of WAGR deletions and related translocations with gene-specific DNA probes, using FACS-selected cell hybrids.
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pubmed:affiliation |
MRC Clinical and Population Cytogenetics Unit, Western General Hospital, Edinburgh, U.K.
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pubmed:publicationType |
Journal Article
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