Familial hypocalciuric hypercalcaemia (FHH)Genetic testingNext generation sequencing (NGS)The improved access and affordability of next generation sequencing has facilitated the clinical use of gene panel testing to test concurrently patients for multiple heritable hyperparathyroidism syndromes. However, there...
Genetic testing in diagnostic workup: current recommendations and potential future perspectives Determining the underlying etiology in patients diagnosed with AP, RAP, and CP is critical for clinical management as well as follow-up. Unfortunately, the etiology causing pancreatitis remains unclear in a re...
a gene set analysis was implemented using the GENE2FUNC tool in FUMA using the 54 positionally mapped genes with unique Entrez IDs and gene symbols. The following parameters were applied: Benjamini-Hochberg false discovery rate (FDR) for multiple testing correction, adjustedp-value cut-off...
G. et al. Adenosine A2(A) receptor gene polymorphism (1976C>T) affects coronary flow reserve response during vasodilator stress testing in patients with non ischemic-dilated cardiomyopathy. Pharmacogenet. Genom. 21, 469–475 (2011). CAS Google Scholar Sato, M. et al. Association between ...
Distinguishing among the five syndromes is often difficult but has profound implications for the management of patient and family. The availability of specific genetic testing for four of the syndromes has improved diagnostic accuracy and simplified family monitoring in many cases but its current cost ...
NIH Launches Online Genetic Testing Registry.The article reviews the web site Genetic Testing Registry (GTR), located at www.ncbi.nlm.nih.gov/gtr, from the U.S. National Institutes of Health (NIH).EBSCO_bspNational Intelligence Report
Molecular testing confirmed a homozygous variant (c.1744T >A; p.Cys582Ser) in the calcium‐sensing receptor (CaSR) gene which confirmed the diagnosis of NSHPT. NSHPT, a rare genetic disorder associated with high mortality rates, is often caused by inactivating CaSR gene va...
and fibrosis without influencing BP.61,65 Recombinant progeny testing refined this QTL on Hypertension Research QTL mapping in rat A Schulz and R Kreutz Table 1 Renal disease QTL identified in genome-wide linkage analyses of genetic rat models 677 Cross BUF Â WKY BC FHH Â ACI BC Ref. ...
Familial hypocalciuric hypercalcaemia (FHH)Genetic testingNext generation sequencing (NGS)Endocrine - The improved access and affordability of next generation sequencing has facilitated the clinical use of gene panel testing to test concurrently patients for multiple heritable......
In this study, genetic testing impacted clinical care in 7 (15%) patients. We suggest that all patients <40years of age, with multi-gland disease, single gland disease refractory to treatment, and a positive family history for pHPT or associated tumors should be considered for genetic ...