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- aggregation classification "A1".
- aggregation creator B506883.
- aggregation creator B506884.
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- aggregation date "2010".
- aggregation format "application/pdf".
- aggregation hasFormat 1002378.bibtex.
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- aggregation isPartOf urn:issn:0021-972X.
- aggregation language "eng".
- aggregation publisher "ENDOCRINE SOC".
- aggregation rights "I have transferred the copyright for this publication to the publisher".
- aggregation subject "Medicine and Health Sciences".
- aggregation title "Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1".
- aggregation abstract "Context: Short stature has an incidence of three in 100 in children. Reliable molecular genetic testing may be crucial in the context of beneficial disease management. Deletions spanning or surrounding the SHOX gene account for a significant proportion of patients with idiopathic short stature (ISS) and allied disorders, such as Leri-Weill dyschondrosteosis. Objective: Several shortcomings of current strategies for copy number profiling of the SHOX region prompted us to develop an improved test for molecular diagnostics of the SHOX region. Design and Results: We introduced a quantitative PCR (qPCR)-based copy number profiling test, consisting of 11 amplicons targeting clinically relevant regions, i.e. the SHOX gene and regulatory regions. To ensure an optimal sensitivity and specificity, this test was validated in 32 controls and 18 probands with previously identified copy number changes. In addition, 152 probands with SHOX-associated phenotypes were screened, revealing 10 novel copy number changes. Conclusion: This highly validated qPCR test supersedes other approaches for copy number screening of the SHOX region in terms of reliability, accuracy, and cost efficiency. In addition, another strong point is the fact that it can be easily implemented in any standard equipped molecular laboratory. Our qPCR-based test is highly recommended for molecular diagnostics of idiopathic short stature and allied disorders. (J Clin Endocrinol Metab 95: 3010-3018, 2010)".
- aggregation authorList BK850930.
- aggregation endPage "3018".
- aggregation issue "6".
- aggregation startPage "3010".
- aggregation volume "95".
- aggregation aggregates 1002425.
- aggregation isDescribedBy 1002378.
- aggregation similarTo jc.2009-2218.
- aggregation similarTo LU-1002378.