(Q35250061)

7 August 2017

title

Mutation detection in the repeated part of the PKD1 gene (English)

1 reference

7 August 2017

Roelfsema JH

1 reference

7 August 2017

Spruit L

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7 August 2017

Saris JJ

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7 August 2017

Chang P

1 reference

7 August 2017

Pirson Y

1 reference

7 August 2017

van Ommen GJ

1 reference

7 August 2017

Peters DJ

1 reference

7 August 2017

Breuning MH

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7 August 2017

language of work or name

English

0 references

publication date

1 November 1997

1 reference

American Journal of Human Genetics

7 August 2017

published in

1 reference

7 August 2017

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7 August 2017

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7 August 2017

page(s)

1044-1052

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

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

The long walk toward the PKD1 gene. The European PKD1 Consortium

12 July 2018

1 reference

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The sea urchin sperm receptor for egg jelly is a modular protein with extensive homology to the human polycystic kidney disease protein, PKD1.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

A comprehensive genetic map of the human genome based on 5,264 microsatellites

12 July 2018

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Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

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

12 July 2018

1 reference

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Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions

12 July 2018

1 reference

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PCR amplification of up to 35-kb DNA with high fidelity and high yield from lambda bacteriophage templates

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

The 1993-94 Généthon human genetic linkage map

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

Cardiovascular Abnormalities Associated with Adult Polycystic Kidney Disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

Detection and localization of single base changes by denaturing gradient gel electrophoresis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

Echocardiographic Findings in Autosomal Dominant Polycystic Kidney Disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

Dinucleotide repeat polymorphism at the human hemoglobin alpha-1 pseudo-gene (HBAP1)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

A second-generation linkage map of the human genome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

Multilocus polycystic disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716049

Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease

26 September 2018

1 reference

12 December 2020

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

1 reference

12 December 2020

Liver cysts in patients with autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

1 reference

12 December 2020

Detection of translation terminating mutations in the PKD1 gene

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease with liver and pancreatic involvement in early childhood

1 reference

12 December 2020

Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Detecting single base substitutions as heteroduplex polymorphisms

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene

1 reference

12 December 2020

Renal cysts in premature children: occurrence in a family with polycystic kidney disease

1 reference

12 December 2020

A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family

1 reference

12 December 2020

Intracranial aneurysms in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Polycystic kidney disease: prospective analysis of nonazotemic patients and family members

1 reference

12 December 2020

Diverticular disease in patients with chronic renal failure due to polycystic kidney disease

1 reference

12 December 2020

Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion

1 reference

12 December 2020

Identifiers

DOI

10.1086/301600

1 reference

7 August 2017

1 reference

7 August 2017

1 reference