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A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region
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Detection of maternal uniparental disomy at the two imprinted genes on chromosome 7, GRB10 and PEG1/MEST, in a Silver-Russell syndrome patient using methylation-specific PCR assays
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Kim Y., Kim S.-S., Kim G., Park S., Park I.S., and Yoo H.W. Detection of maternal uniparental disomy at the two imprinted genes on chromosome 7, GRB10 and PEG1/MEST, in a Silver-Russell syndrome patient using methylation-specific PCR assays. Clin. Genet. 67 (2004) 267-269
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Chromosome 7p disruptions in Silver-Russell syndrome: delineating an imprinted candidate gene region
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Mosaic maternal uniparental isodisomy for chromosome 7q21-qter
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Reboul M.P., Tandonnet O., Biteau N., Belet-de Putter C., Rebouissoux L., Moardkhani K., Vu P.Y., Saura R., Arveiler B., Lacombe D., Taine L., and Iron A. Mosaic maternal uniparental isodisomy for chromosome 7q21-qter. Clin. Genet. 70 (2006) 207-213
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Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
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Temple I.K., Shrubb V., Lever M., Bullmann H., and Mackay D.J.G. Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. J. Med. Genet. 44 (2007) 637-640
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