(Q57304696)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211343%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Rapid communication (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211343%20AND%20SRC:MED&resulttype=core&format=json

autosomal dominant polycystic kidney disease

4 November 2019

main subject

0 references

autosomal dominant polycystic kidney

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211343%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Celia Badenas

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211343%20AND%20SRC:MED&resulttype=core&format=json

Xavier Estivill i Pallejà

4 November 2019

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211343%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

author name string

A Darnell

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211343%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

C Brú

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211343%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

A Escorsell

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211343%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

language of work or name

English

0 references

publication date

1 July 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211343%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211343%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211343%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211343%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

33-38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211343%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ki.1997.300

4 November 2019

exact match

0 references

cites work

Epidemiology of adult polycystic kidney disease, Olmsted County, Minnesota: 1935-1980.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Interfamilial and intrafamilial variability of clinical expression in ADPKD.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Polycystic kidney disease patients on renal replacement therapy: data from the Catalan Renal Registry.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

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

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Dynamic mutations: a new class of mutations causing human disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Hepatobiliary fibropolycystic diseases. A clinical and histological review of 51 patients

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Caroli's disease in congenital hepatic fibrosis and infantile polycystic disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Caroli's disease and adult polycystic kidney disease: a rarely recognized association

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Polycystic kidney of autosomal dominant inheritance, polycystic liver and congenital hepatic fibrosis in a single kindred

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Fast and sensitive silver staining of DNA in polyacrylamide gels

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation"

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Intrafamilial phenotypic expression of autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Multilocus polycystic disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Radiologic features of "adult type" polycystic kidney disease in the neonate

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Polycystic kidney disease in the fetus

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Autosomal dominant polycystic kidney disease in the fetus.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1997.300

7 January 2021

Identifiers

DOI

10.1038/KI.1997.300

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211343%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference