(Q33598200)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1978861%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

title

Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1978861%20AND%20SRC:MED&resulttype=core&format=json

polycystic kidney disease

22 September 2019

main subject

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1978861%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

M H Breuning

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1978861%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

F G Snijdewint

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1978861%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

J G Dauwerse

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1978861%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

E Bakker

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1978861%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

P L Pearson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1978861%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

G J vanOmmen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1978861%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

language of work or name

English

0 references

publication date

1 October 1990

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1978861%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

22 September 2019

published in

1 reference

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22 September 2019

volume

1 reference

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22 September 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1978861%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

page(s)

614-617

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1978861%20AND%20SRC:MED&resulttype=core&format=json

Genetic counselling for adult polycystic kidney disease. Ultrasound a useful tool in pre-symptomatic diagnosis?

22 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017239

Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: data 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=1017239

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017239

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017239

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=1017239

Two genetic markers closely linked to adult polycystic kidney disease 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=1017239

A new hypervariable marker for 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=1017239

Isolation and mapping of a polymorphic DNA sequence (pCMM65) on chromosome 16 [D16S84]

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017239

DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017239

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017239

Hypervariabflity of simple sequences as a general source for polymorphic DNA 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=1017239

Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017239

Detection of single DNA base differences by competitive oligonucleotide priming

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017239

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017239

Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017239

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=1017239

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017239

Hot spot of recombination within DXS164 in the Duchenne muscular dystrophy gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017239

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017239

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=1017239

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=1017239

Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis

21 June 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy

1 reference

12 December 2020

A study of genetic linkage heterogeneity in adult polycystic kidney disease

1 reference

12 December 2020

A second genetic locus for autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Individual specific DNA fingerprints from a hypervariable region probe: alpha-globin 3'HVR

1 reference

12 December 2020

Linkage heterogeneity of autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy

1 reference

12 December 2020

Rapid detection of polymorphism near gene for adult polycystic kidney disease

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.27.10.614

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1978861%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1978861%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

PubMed publication ID

1978861

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1978861%20AND%20SRC:MED&resulttype=core&format=json