Polycystic kidney disease other diagnostic studies: Difference between revisions
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==Overview== | ==Overview== | ||
Other diagnostic studies for polycystic kidney disease include, genetic testing, which demonstrates, frame insertions/deletions, non-canonical splice site alterations, combined missense changes. | Other diagnostic studies for polycystic kidney disease include, [[genetic]] testing, which demonstrates, frame insertions / deletions, non-canonical [[splice]] site alterations, combined [[missense]] changes. | ||
==Other Diagnostic Studies== | ==Other Diagnostic Studies== | ||
*Other diagnostic studies for polycystic kidney disease include: | *Other diagnostic studies for polycystic kidney disease include: | ||
**Genetic testing, which demonstrates:<ref name="pmid17574468">{{cite journal| author=Garcia-Gonzalez MA, Jones JG, Allen SK, Palatucci CM, Batish SD, Seltzer WK et al.| title=Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. | journal=Mol Genet Metab | year= 2007 | volume= 92 | issue= 1-2 | pages= 160-7 | pmid=17574468 | doi=10.1016/j.ymgme.2007.05.004 | pmc=PMC2085355 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17574468 }} </ref><ref name="pmid17582161">{{cite journal| author=Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ et al.| title=Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. | journal=J Am Soc Nephrol | year= 2007 | volume= 18 | issue= 7 | pages= 2143-60 | pmid=17582161 | doi=10.1681/ASN.2006121387 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17582161 }} </ref> | **[[Genetic]] testing, which demonstrates:<ref name="pmid17574468">{{cite journal| author=Garcia-Gonzalez MA, Jones JG, Allen SK, Palatucci CM, Batish SD, Seltzer WK et al.| title=Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. | journal=Mol Genet Metab | year= 2007 | volume= 92 | issue= 1-2 | pages= 160-7 | pmid=17574468 | doi=10.1016/j.ymgme.2007.05.004 | pmc=PMC2085355 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17574468 }} </ref><ref name="pmid17582161">{{cite journal| author=Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ et al.| title=Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. | journal=J Am Soc Nephrol | year= 2007 | volume= 18 | issue= 7 | pages= 2143-60 | pmid=17582161 | doi=10.1681/ASN.2006121387 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17582161 }} </ref> | ||
***Frame insertions/deletions | ***Frame insertions/deletions | ||
***Non-canonical splice site alterations | ***Non-canonical [[splice]] site alterations | ||
***Combined missense changes | ***Combined [[missense]] changes | ||
==References== | ==References== | ||
Revision as of 21:43, 5 June 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: M. Khurram Afzal, MD [2]
Overview
Other diagnostic studies for polycystic kidney disease include, genetic testing, which demonstrates, frame insertions / deletions, non-canonical splice site alterations, combined missense changes.
Other Diagnostic Studies
- Other diagnostic studies for polycystic kidney disease include:
References
- ↑ Garcia-Gonzalez MA, Jones JG, Allen SK, Palatucci CM, Batish SD, Seltzer WK; et al. (2007). "Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease". Mol Genet Metab. 92 (1–2): 160–7. doi:10.1016/j.ymgme.2007.05.004. PMC 2085355. PMID 17574468.
- ↑ Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ; et al. (2007). "Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease". J Am Soc Nephrol. 18 (7): 2143–60. doi:10.1681/ASN.2006121387. PMID 17582161.