(Q33736708)

29 July 2017

1 reference

title

Diagnosis and screening of autosomal dominant polycystic kidney disease (English)

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autosomal dominant polycystic kidney disease

29 July 2017

0 references

autosomal dominant polycystic kidney

1 reference

York Pei

1

1 reference

PubMed ID

20219617

29 July 2017

Terry Watnick

series ordinal

2

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PubMed ID

20219617

29 July 2017

language of work or name

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1 March 2010

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Advances in Chronic Kidney Disease

29 July 2017

1 reference

29 July 2017

17

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29 July 2017

2

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29 July 2017

140-152

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Autosomal dominant polycystic kidney disease: the last 3 years

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

DNA testing for live kidney donors at risk for autosomal dominant polycystic kidney disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Unified criteria for ultrasonographic diagnosis of ADPKD.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Pkd1 inactivation induced in adulthood produces focal cystic disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Diagnostic approach in autosomal dominant polycystic kidney disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

The tuberous sclerosis complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Mutations in SEC63 cause autosomal dominant polycystic liver disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Clinical profile of autosomal dominant polycystic liver disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Genetics and pathogenesis of polycystic kidney disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Recent insights into kidney diseases associated with glomerular cysts.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Management of cerebral aneurysms in autosomal dominant polycystic kidney disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Acquired cystic kidney disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Is there a third gene for autosomal dominant polycystic kidney disease?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

An ultrasound renal cyst prevalence survey: specificity data for inherited renal cystic diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Family history of renal disease severity predicts the mutated gene in ADPKD.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Polycystic liver: clinical characteristics of patients with isolated polycystic liver disease compared with patients with polycystic liver and autosomal dominant polycystic kidney disease.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

The prevalence of simple renal and hepatic cysts detected by spiral computed tomography

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

Oral–facial–digital syndromes: Review and diagnostic guidelines

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841025

30 October 2018

PKD3—to be or not to be?

1 reference

12 December 2020

Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Sonographic pattern of recessive polycystic kidney disease in young adults. Differences from the dominant form

1 reference

12 December 2020

Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples

1 reference

12 December 2020

Rapid MR imaging detection of renal cysts: age-based standards

1 reference

12 December 2020

1 reference

12 December 2020

The diagnosis and prognosis of autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Segregation analysis of autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Evidence for a third genetic locus for autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

1 reference

12 December 2020

An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene

1 reference

12 December 2020

An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection

1 reference

12 December 2020

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Improving the recognition of hereditary interstitial kidney disease

1 reference

12 December 2020

Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Bilateral polycystic disease of the kidneys; a follow-up of 284 patients and their families

1 reference

12 December 2020

Volume progression in polycystic kidney disease

1 reference

12 December 2020

10.1053/J.ACKD.2009.12.001

Identifiers

DOI

1 reference

29 July 2017

1 reference

29 July 2017

1 reference

PubMed ID

20219617