The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia. (Q33858105)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24980890%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

title

The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24980890%20AND%20SRC:MED&resulttype=core&format=json

chronic renal insufficiency

21 March 2020

main subject

Australia

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24980890%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Helen Healy

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24980890%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

author name string

Chirag Patel

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24980890%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Anne Salisbury

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24980890%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Zaimin Wang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24980890%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Wendy Hoy

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24980890%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

publication date

30 June 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24980890%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

21 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24980890%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24980890%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

page(s)

98

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24980890%20AND%20SRC:MED&resulttype=core&format=json

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

21 March 2020

cites work

1 reference

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Insights from the use in clinical practice of eculizumab in adult patients with atypical hemolytic uremic syndrome affecting the native kidneys: an analysis of 19 cases

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Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry

28 July 2018

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Defective glucose metabolism in polycystic kidney disease identifies a new therapeutic strategy.

28 July 2018

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28 July 2018

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Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations

28 July 2018

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Congenital Anomalies of the Kidney and Urinary Tract: A Genetic Disorder?

28 July 2018

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Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative

28 July 2018

1 reference

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Genetic studies in chronic kidney disease: basic concepts

28 July 2018

1 reference

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The effectiveness of long-term agalsidase alfa therapy in the treatment of Fabry nephropathy.

28 July 2018

1 reference

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Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy

28 July 2018

1 reference

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Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

28 July 2018

1 reference

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Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation

28 July 2018

1 reference

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Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry

28 July 2018

1 reference

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An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review.

28 July 2018

1 reference

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28 July 2018

Genetic kidney diseases

1 reference

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Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression

28 July 2018

1 reference

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Clinical pattern of adult polycystic kidney disease in a northeastern region of Italy

28 July 2018

1 reference

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Autosomal dominant polycystic kidney disease: the last 3 years

28 July 2018

1 reference

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28 July 2018

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1 reference

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Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

28 July 2018

1 reference

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Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

28 July 2018

1 reference

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The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

28 July 2018

1 reference

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28 July 2018

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Identification of mutations in the COL4A5 collagen gene in Alport syndrome

28 July 2018

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Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

28 July 2018

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29 October 2018

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29 October 2018

1 reference

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29 October 2018

1 reference

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Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany

29 October 2018

1 reference

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Use of eculizumab for atypical haemolytic uraemic syndrome and C3 glomerulopathies

29 October 2018

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An update on the pathomechanisms and future therapies of Alport syndrome

29 October 2018

1 reference

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Safety and Efficacy of the ACE-Inhibitor Ramipril in Alport Syndrome: The Double-Blind, Randomized, Placebo-Controlled, Multicenter Phase III EARLY PRO-TECT Alport Trial in Pediatric Patients

29 October 2018

1 reference

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29 October 2018

1 reference

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Everolimus in patients with autosomal dominant polycystic kidney disease.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085397

Sirolimus and kidney growth in autosomal dominant polycystic kidney disease

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085397

Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085397

Prevalence of kidney damage in Australian adults: The AusDiab kidney study.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085397

Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group

29 October 2018

1 reference

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Prevalence and renal prognosis of diagnosed autosomal dominant polycystic kidney disease in Japan.

29 October 2018

1 reference

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Epidemiology of adult polycystic kidney disease, Olmsted County, Minnesota: 1935-1980.

29 October 2018

1 reference

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Polycystic kidney disease re-evaluated: a population-based study.

29 October 2018

1 reference

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Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations

29 October 2018

1 reference

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Prevalence of genetic renal disease in children

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24980890

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24980890

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24980890

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-9-98

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24980890%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

21 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24980890%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

PubMed publication ID

24980890

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24980890%20AND%20SRC:MED&resulttype=core&format=json