(Q43077828)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060739%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060739%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060739%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

John J Bissler

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060739%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

author name string

York Pei

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060739%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

David J Kwiatkowski

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060739%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

publication date

3 December 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060739%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060739%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

volume

91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060739%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060739%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

page(s)

203-208

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060739%20AND%20SRC:MED&resulttype=core&format=json

Triplex DNA and human disease.

29 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

PKD1 intron 21: triplex DNA formation and effect on replication

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

DNA structural transitions within the PKD1 gene.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

Integration of transcript and genetic maps of chromosome 16 at near-1-Mb resolution: demonstration of a "hot spot" for recombination at 16p12.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

Hereditary and acquired cystic disease of the kidney

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

Multiple sequence alignment with hierarchical clustering

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

A Large Duplicated Area in the Polycystic Kidney Disease 1 (PKD1) Region of Chromosome 16 Is Prone to Rearrangement

1 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268736

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

1 December 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.10.003

Pkd1 unusual DNA conformations are recognized by nucleotide excision repair

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.10.003

Large deletions in the polycystic kidney disease 1 (PKD1) gene

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.10.003

Polycystic kidney disease. 1: Identification and analysis of the primary defect

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18060739

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.YGENO.2007.10.003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060739%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060739%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference