List of works - Rodney D. Gilbert

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

scientific journal article

Abdominal aortic aneurysms in children

scientific article published on 01 December 1996

Acute promyelocytic leukemia. A childhood cluster.

scientific article published in March 1987

Acute renal failure in a patient with paroxysmal cold hemoglobinuria.

scientific article published on 23 November 2006

Basal metabolic rate in children with chronic kidney disease and healthy control children

scientific article published on 17 May 2015

Bilateral multicystic kidneys--an unusual case

scientific article published on 07 September 2002

Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease ⬇️

scientific article published on April 28, 2013

Children with nephrotic syndrome have greater bone area but similar volumetric bone mineral density to healthy controls

scientific article published on 18 October 2013

Cisplatin-induced haemolytic uraemic syndrome associated with a novel intronic mutation of CD46 treated with eculizumab

scientific article published on August 2013

Diabetes and nephrotic syndrome: Answers

scientific article published on 23 December 2016

Diabetes and nephrotic syndrome: Questions

scientific article published on 10 January 2017

Does dysregulated complement activation contribute to haemolytic uraemic syndrome secondary to Streptococcus pneumoniae?

scientific article

Eculizumab in atypical haemolytic uraemic syndrome with severe cardiac and neurological involvement

scientific article

Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B.

scientific article

Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.

scientific article published in December 2013

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

scientific article

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

scientific article published on 20 January 2017

Hemolytic uremic syndrome associated with invasive pneumococcal disease: the United kingdom experience

scientific article

Interaction between clonidine and cyclosporine A

scientific article published on 01 January 1995

Laparoscopic renal biopsy in obese children

scientific article published on 27 January 2005

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

scientific article published on April 2013

Mutations in PIK3R1 cause SHORT syndrome

scientific article published on 27 June 2013

Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis

scientific article published on 26 November 2008

Myocardial infarction in Kawasaki disease

scientific article published on 01 May 1989

Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome

scientific article published in October 2006

Patients' and health-care professionals' awareness of cost: a multicentre survey

scientific article published in January 2016

Pearson's syndrome presenting with Fanconi syndrome

scientific article published in September 1996

Professionals Against Child Abuse express support for David Southall.

scientific article

Progressive myoclonic epilepsy with Fanconi syndrome

scientific article published on 6 June 2016

Rituximab therapy for steroid-dependent minimal change nephrotic syndrome

scientific article published on 24 August 2006

Short course daily prednisolone therapy during an upper respiratory tract infection in children with relapsing steroid-sensitive nephrotic syndrome (PREDNOS 2): protocol for a randomised controlled trial

scientific article

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome

scientific article published on 24 January 2013

Streptococcus pneumoniae-associated hemolytic uremic syndrome

scientific article published on 01 June 1998

The clinical course of hepatitis B virus-associated nephropathy

scientific article published in February 1994

Tolvaptan treatment for severe neonatal autosomal-dominant polycystic kidney disease.

scientific article published on 13 February 2017

Urinary L-lactate excretion is increased in renal Fanconi syndrome

scientific article

Vitamin B6 in Pediatric Renal Transplant Recipients

scientific article published on 10 November 2018

List of works by Rodney D. Gilbert

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

Abdominal aortic aneurysms in children

Acute promyelocytic leukemia. A childhood cluster.

Acute renal failure in a patient with paroxysmal cold hemoglobinuria.

Basal metabolic rate in children with chronic kidney disease and healthy control children

Bilateral multicystic kidneys--an unusual case

Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease ⬇️

Children with nephrotic syndrome have greater bone area but similar volumetric bone mineral density to healthy controls

Cisplatin-induced haemolytic uraemic syndrome associated with a novel intronic mutation of CD46 treated with eculizumab

Diabetes and nephrotic syndrome: Answers

Diabetes and nephrotic syndrome: Questions

Does dysregulated complement activation contribute to haemolytic uraemic syndrome secondary to Streptococcus pneumoniae?

Eculizumab in atypical haemolytic uraemic syndrome with severe cardiac and neurological involvement

Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B.

Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

Hemolytic uremic syndrome associated with invasive pneumococcal disease: the United kingdom experience

Interaction between clonidine and cyclosporine A

Laparoscopic renal biopsy in obese children

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

Mutations in PIK3R1 cause SHORT syndrome

Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis

Myocardial infarction in Kawasaki disease

Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome

Patients' and health-care professionals' awareness of cost: a multicentre survey

Pearson's syndrome presenting with Fanconi syndrome

Professionals Against Child Abuse express support for David Southall.

Progressive myoclonic epilepsy with Fanconi syndrome

Rituximab therapy for steroid-dependent minimal change nephrotic syndrome

Short course daily prednisolone therapy during an upper respiratory tract infection in children with relapsing steroid-sensitive nephrotic syndrome (PREDNOS 2): protocol for a randomised controlled trial

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome

Streptococcus pneumoniae-associated hemolytic uremic syndrome

The clinical course of hepatitis B virus-associated nephropathy

Tolvaptan treatment for severe neonatal autosomal-dominant polycystic kidney disease.

Urinary L-lactate excretion is increased in renal Fanconi syndrome

Vitamin B6 in Pediatric Renal Transplant Recipients