Matches in UGent Biblio for { <https://biblio.ugent.be/publication/1196335#aggregation> ?p ?o. }
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- aggregation classification "A1".
- aggregation creator B217654.
- aggregation creator B217655.
- aggregation creator B217656.
- aggregation creator B217657.
- aggregation creator person.
- aggregation creator person.
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- aggregation date "2011".
- aggregation format "application/pdf".
- aggregation hasFormat 1196335.bibtex.
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- aggregation isPartOf urn:issn:0275-004X.
- aggregation language "eng".
- aggregation rights "I have transferred the copyright for this publication to the publisher".
- aggregation subject "Medicine and Health Sciences".
- aggregation title "Discordance for retinitis pigmentosa in two monozygotic twin pairs".
- aggregation abstract "Background: Retinitis pigmentosa (RP) is a group of genetically heterogeneous diseases with progressive degeneration of the retina. The condition can be inherited as an autosomal dominant, autosomal recessive, and X-linked trait. Methods: We report on two female twin pairs. One twin of each pair is affected with RP, the other twin is unaffected, both clinically and functionally. Molecular analysis in both twins included zygosity determination, arrayed primer extension chip analysis for autosomal recessive and dominant RP, sequencing of the entire RPGR gene, and analysis of X-chromosome inactivation status. Results: Both unrelated twin pairs were genetically identical. Of the potential pathogenetic mechanisms, skewed X-inactivation was excluded on leukocytes. Autosomal recessive RP and autosomal dominant RP arrayed primer extension chip analysis result was completely normal, excluding known mutations in known genes as the cause of disease in the affected twins. Sequencing excluded mutations in RPGR. A postzygotic recessive or dominant genetic mutation of an RP gene is not impossible. A postfertilization error as a potential cause of uniparental isodisomy is unlikely albeit not entirely impossible. Conclusion: The authors report on the second and third unrelated identical twin pair discordant for RP. The exact cause of the condition and the explanation of the clinical discordance remain elusive.".
- aggregation authorList BK480413.
- aggregation endPage "1169".
- aggregation issue "6".
- aggregation startPage "1164".
- aggregation volume "31".
- aggregation aggregates 1196410.
- aggregation aggregates 2094036.
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