Lista de obras -

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

artículo científico publicado en 2013

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

artículo científico publicado en 2017

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Fainting Fanconi syndrome clarified by proxy: a case report

artículo científico publicado en 2017

Familial Membranous Nephropathy: An X-Linked Genetic Susceptibility?

article

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

artículo científico publicado el 1 de septiembre de 2011

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Genetic testing in renal disease ⬇️

artículo científico publicado el 27 de mayo de 2011

Genetic, pathophysiological, and clinical aspects of nephrocalcinosis.

artículo científico publicado en 2016

Genetics of membranous nephropathy

artículo científico publicado en 2017

Genetics of renovascular hypertension in children

artículo científico publicado en 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2017

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome

artículo científico publicado en 2014

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

artículo científico publicado en 2004

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

Of dogs and men.

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 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?

artículo científico publicado en 2017

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

artículo científico publicado en 2018

The case | Renal tubular acidosis and eye findings

artículo científico publicado en 2014

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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

Tolvaptan is successful in treating inappropriate antidiuretic hormone secretion in infants

artículo científico publicado en 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

artículo científico publicado en 2018

Lista de obras de

A patient with polyuria and hydronephrosis: question

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

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

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

Bartter and Gitelman syndromes: Questions of class

Bartter syndromes and other salt-losing tubulopathies

Clinical and diagnostic features of Bartter and Gitelman syndromes

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

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

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

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

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

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

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

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

Fainting Fanconi syndrome clarified by proxy: a case report

Familial Membranous Nephropathy: An X-Linked Genetic Susceptibility?

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

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

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

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

Genetic causes of hypomagnesemia, a clinical overview

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

Genetic testing in renal disease ⬇️

Genetic, pathophysiological, and clinical aspects of nephrocalcinosis.

Genetics of membranous nephropathy

Genetics of renovascular hypertension in children

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

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

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

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

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

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

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16

KCNJ10 mutations disrupt function in patients with EAST syndrome

MUC1 Makes Me Miserable

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

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

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

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

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

Of dogs and men.

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

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

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

Renal Fanconi syndrome: taking a proximal look at the nephron

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

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

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

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

The case | Renal tubular acidosis and eye findings

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

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

Tolvaptan is successful in treating inappropriate antidiuretic hormone secretion in infants

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

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

Zebrafish as a model for kidney function and disease