(Q35882462)

10 August 2017

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

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polycystic kidney disease

10 August 2017

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polycystic kidney disease 1

inferred from title

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B Peral

1

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10 August 2017

J L San Millán

2

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10 August 2017

A C Ong

3

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10 August 2017

V Gamble

4

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10 August 2017

C J Ward

5

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10 August 2017

C Strong

6

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10 August 2017

P C Harris

7

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10 August 2017

language of work or name

English

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publication date

1 January 1996

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American Journal of Human Genetics

10 August 2017

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10 August 2017

58

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10 August 2017

86-96

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10 August 2017

1

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

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914963

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914963

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914963

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914963

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914963

Genetic heterogeneity of polycystic kidney disease in Bulgaria.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914963

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914963

Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914963

Localisation of a mutation producing autosomal dominant polycystic kidney disease without renal failure.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914963

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914963

Autosomal dominant polycystic kidney disease--more than a renal disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914963

Locus assignment of human alpha globin mutations by selective amplification and direct sequencing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914963

Protocols for an improved detection of point mutations by SSCP

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914963

Intrafamilial phenotypic expression of autosomal dominant polycystic kidney disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914963

Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914963

Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914963

Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium)

24 September 2018

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12 December 2020

Is there evidence for anticipation in autosomal-dominant polycystic kidney disease?

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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

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12 December 2020

Influence of six mutations of the protein C gene on the Gla domain conformation and calcium affinity

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12 December 2020

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

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12 December 2020

Localization of a murine recessive polycystic kidney disease mutation and modifying loci that affect disease severity

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

A simple and rapid method of direct sequencing using Dynabeads

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12 December 2020

Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker

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12 December 2020

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

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12 December 2020

Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

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12 December 2020

Characteristics of very early onset autosomal dominant polycystic kidney disease

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12 December 2020

A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia)

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12 December 2020

Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23

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12 December 2020

Identifiers

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10 August 2017

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