Associated Papers
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.
Zacchia M et al.
Journal of Nephrology, 2021
Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency.
Umene R et al.
Cen Case Reports, 2020
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.
Vetro A et al.
Clinical Genetics, 2018
Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.
Cheng CJ et al.
The Journal of Physiology, 2017
In silico model of the human ClC-Kb chloride channel: pore mapping, biostructural pathology and drug screening.
Louet M et al.
Scientific Reports, 2017
ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.
Andrini O et al.
American Journal of Physiology. Renal Physiology, 2015
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.
Bruno DL et al.
Human Mutation, 2011
Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.
Bettinelli A et al.
Pediatric Research, 2005
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