(Q33595965)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7905535%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

Estimating locus heterogeneity in autosomal dominant polycystic kidney disease (ADPKD) in the Spanish population (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7905535%20AND%20SRC:MED&resulttype=core&format=json

autosomal dominant polycystic kidney disease

28 October 2019

main subject

1 reference

autosomal dominant polycystic kidney

inferred from title

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7905535%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Jacques S Beckmann

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7905535%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

author name string

J L San Millán

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7905535%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

C Hernández

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7905535%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

A Valero

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7905535%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

G M Lathrop

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7905535%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

F Moreno

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7905535%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

language of work or name

English

0 references

publication date

1 November 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7905535%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

28 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7905535%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7905535%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

page(s)

910-913

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7905535%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

issue

11

1 reference

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Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: data for genetic counselling

28 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016597

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016597

Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016597

Report of the committee on the genetic constitution of chromosome 16.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016597

Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression. Absence of linkage to the PKD 1 locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016597

A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016597

Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016597

Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (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=1016597

Possible locus for polycystic kidney disease on chromosome 2.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016597

Autosomal dominant polycystic kidney disease: new information for genetic counselling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016597

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016597

Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016597

The diagnosis and prognosis of autosomal dominant polycystic kidney disease

21 June 2018

1 reference

12 December 2020

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

1 reference

12 December 2020

Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

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

1 reference

12 December 2020

A second genetic locus for autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Linkage heterogeneity of autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.30.11.910

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7905535%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7905535%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference