Lista de obras - Rodney D Gilbert - Dominio Público Uruguay

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

artículo científico publicado en 1987

Acute renal failure in a patient with paroxysmal cold hemoglobinuria.

artículo científico publicado en 2006

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

artículo científico publicado en 2015

Bilateral multicystic kidneys--an unusual case

artículo científico publicado en 2002

Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease ⬇️

artículo científico publicado el 28 de abril de 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Diabetes and nephrotic syndrome: Answers

artículo científico publicado en 2016

Diabetes and nephrotic syndrome: Questions

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2007

Interaction between clonidine and cyclosporine A

scientific article published on 01 January 1995

Laparoscopic renal biopsy in obese children

artículo científico publicado en 2005

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

artículo científico publicado en 2013

Mutations in PIK3R1 cause SHORT syndrome

artículo científico publicado en 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

artículo científico publicado en 1989

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

Pearson's syndrome presenting with Fanconi syndrome

artículo científico publicado en 1996

Professionals Against Child Abuse express support for David Southall.

artículo científico publicado en 2009

Progressive myoclonic epilepsy with Fanconi syndrome

artículo científico publicado en 2016

Rituximab therapy for steroid-dependent minimal change nephrotic syndrome

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Streptococcus pneumoniae-associated hemolytic uremic syndrome

artículo científico publicado en 1998

The clinical course of hepatitis B virus-associated nephropathy

artículo científico publicado en 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

artículo científico publicado en 2004

Vitamin B6 in Pediatric Renal Transplant Recipients

scientific article published on 10 November 2018

Lista de obras de 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