Search filters

List of works by Fiona E Karet Frankl

A renal genetics clinic – model for our times

A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.

scientific article published on 13 June 2015

Accuracy of urine pH testing in a regional metabolic renal clinic: is the dipstick accurate enough? ⬇️

scientific article published on February 9, 2013

Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype

scientific article

Characterization of a Recurrent In-frame UMOD Indel Mutation Causing Late-onset Autosomal Dominant End-Stage Renal Failure ⬇️

scientific article published on October 27, 2011

Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic ⬇️

scientific article published on August 3, 2012

Developing a strategy for the management of rare diseases

BMJ article

Evaluation of support events for individuals with Gitelman/Bartter syndromes and their families: participant feedback and reflections

scientific article published in March 2019

Extra-renal locations of the a4 subunit of H(+)ATPase

scientific article

Gitelman syndrome

scientific article published on 29 May 2012

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

scientific article

Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

scientific article published on 18 October 2018

Magnesium lactate in the treatment of Gitelman syndrome: patient-reported outcomes.

scientific article published in March 2017

Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.

scientific article

Pathogenic uromodulin mutations result in premature intracellular polymerization

scientific article published on 29 November 2014

Patient Survey of current water Intake practices in autosomal dominant Polycystic kidney disease: the SIPs survey

scientific article

Physical and functional links between anion exchanger-1 and sodium pump

scientific article

Pregnancy, Primary Aldosteronism, and Adrenal CTNNB1 Mutations

scientific article

Randomised controlled trial of high versus ad libitum water intake in patients with autosomal dominant polycystic kidney disease: rationale and design of the DRINK feasibility trial.

scientific article

Renal peroxiredoxin 6 interacts with anion exchanger 1 and plays a novel role in pH homeostasis

scientific article published on 23 September 2015

The importance of being rare

scientific article published on 01 August 2016

To be or not to be…

scientific article published on 15 August 2016

Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements ⬇️

scientific article published on January 17, 2013

Paulina is supported by:

About Paulina

Help