(Q37005478)

17 August 2017

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

1 reference

autosomal dominant polycystic kidney disease

17 August 2017

0 references

autosomal dominant polycystic kidney

1 reference

inferred from title

author

Robert William Schrier

11

object named as

Robert W Schrier

1 reference

17 August 2017

9

Pamela R Fain

1 reference

17 August 2017

Berenice Reed

1

1 reference

17 August 2017

Kim McFann

2

1 reference

17 August 2017

William J Kimberling

3

1 reference

17 August 2017

York Pei

4

1 reference

17 August 2017

Patricia A Gabow

5

1 reference

17 August 2017

Karen Christopher

6

1 reference

17 August 2017

Eric Petersen

7

1 reference

17 August 2017

Catherine Kelleher

8

1 reference

17 August 2017

Ann Johnson

10

1 reference

17 August 2017

21 July 2008

1 reference

American Journal of Kidney Diseases

17 August 2017

1 reference

17 August 2017

52

1 reference

17 August 2017

6

1 reference

17 August 2017

1042-1050

1 reference

Variation in age at ESRD in autosomal dominant polycystic kidney disease

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

Modifier genes play a significant role in the phenotypic expression of PKD1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

Human non-synonymous SNPs: server and survey

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

Genetic heterogeneity of polycystic kidney disease in Bulgaria.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

ConSeq: the identification of functionally and structurally important residues in protein sequences.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

Identification of patients with autosomal dominant polycystic kidney disease at highest risk for end-stage renal disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

A weight array method for splicing signal analysis.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598385

Inheritance of a stable mutation in a family with early-onset disease

4 December 2018

1 reference

12 December 2020

Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1)

1 reference

12 December 2020

Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family

1 reference

12 December 2020

Mutational analysis within the 3' region of the PKD1 gene in Japanese families

1 reference

12 December 2020

The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal Disease

1 reference

12 December 2020

A complete mutation screen of the ADPKD genes by DHPLC

1 reference

12 December 2020

Is there evidence for anticipation in 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

Role of magnetic resonance imaging in renal transplant recipients with acquired cystic kidney disease

1 reference

12 December 2020

10.1053/J.AJKD.2008.05.015

Identifiers

DOI

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

18640754

1 reference