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List of works by Robert Kleta

A patient with polyuria and hydronephrosis: question

scientific article published on 08 February 2011

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

scientific article

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

scientific article

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

scientific article

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1

scientific article

Bartter and Gitelman syndromes: Questions of class

scientific article published on 29 October 2019

Bartter syndromes and other salt-losing tubulopathies

scientific article published on 19 June 2006

Clinical and diagnostic features of Bartter and Gitelman syndromes.

scientific article published on 10 November 2017

Clinical and molecular aspects of distal renal tubular acidosis in children.

scientific article published on 10 February 2017

Consanguinity in Saudi Arabia: a unique opportunity for pediatric kidney research

scientific article

Cystic fibrosis, aminoglycoside treatment and acute renal failure: the not so gentle micin

scientific article published on 13 November 2008

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10

scientific article

Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK.

scientific article

Epilepsy in kcnj10 morphant zebrafish assessed with a novel method for long-term EEG recordings

scientific article

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

scientific article

Erratum to: Clinical and molecular aspects of distal renal tubular acidosis in children

scientific article published on 01 June 2017

Fainting Fanconi syndrome clarified by proxy: a case report

scientific article

Familial Membranous Nephropathy: An X-Linked Genetic Susceptibility?

article

Filtering the genes and sorting the glomerular filter: a new piece in the puzzle? ⬇️

scientific article published on September 1, 2011

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

scientific article

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

scientific article

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome

scientific article published on 01 July 2019

Genetic causes of hypomagnesemia, a clinical overview

scientific article

Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies

scientific article published on 4 February 2016

Genetic testing in renal disease ⬇️

scientific article published on May 27, 2011

Genetic, pathophysiological, and clinical aspects of nephrocalcinosis.

scientific article published on 7 September 2016

Genetics of membranous nephropathy

scientific article

Genetics of renovascular hypertension in children

scientific article published on 06 June 2020

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

scientific article published on 01 November 2018

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

scientific article published on 13 April 2018

HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood

scientific article published on 29 May 2019

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults

scientific article published on 16 September 2019

Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations

article

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

scientific journal article

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16

scientific article published on 02 November 2013

KCNJ10 mutations disrupt function in patients with EAST syndrome

scientific article published on 18 August 2011

MUC1 Makes Me Miserable

scientific article published on 17 August 2018

Membranous nephropathy: a retrospective observational study of membranous nephropathy in north east and central London.

scientific article

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome

scientific article

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

scientific article

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations ⬇️

scientific article

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

scientific article

OVAS: an open-source variant analysis suite with inheritance modelling.

scientific article published on 8 February 2018

Of dogs and men.

scientific article published in February 2017

Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy

scientific article published on 21 February 2013

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

scientific article published on 3 April 2017

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

scientific article published on 17 June 2020

Renal Fanconi syndrome: taking a proximal look at the nephron

scientific article published on 09 December 2014

Renal apnoea: extreme disturbance of homoeostasis in a child with Bartter syndrome type IV.

scientific article published in August 2016

Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy

scientific journal article

Salt-Losing Tubulopathies in Children: What's New, What's Controversial?

scientific article published on 13 December 2017

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

scientific article published in February 2018

The case | Renal tubular acidosis and eye findings

scientific article published on 01 July 2014

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

scientific article published on 30 March 2020

The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel

scientific article published on 11 January 2011

Tolvaptan is successful in treating inappropriate antidiuretic hormone secretion in infants

scientific article published on 30 March 2016

Treatment and long-term outcome in primary distal renal tubular acidosis

scientific article published on 01 June 2019

Urea is successful in treating inappropriate antidiuretic hormone secretion in an infant

scientific article published on 04 January 2017

Zebrafish as a model for kidney function and disease

scientific article published on 03 March 2018

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