Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay. (Q34389935)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

Abderhalden–Kaufmann–Lignac syndrome

10 December 2019

main subject

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Forestier L

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Jean G

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Attard M

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Lewis C

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

van't Hoff W

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Broyer M

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Town M

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

language of work or name

English

0 references

publication date

1 August 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

10 December 2019

number of pages

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

page(s)

353-359

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)

10 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=1377934

CTNS mutations in an American-based population of cystinosis patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377934

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377934

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377934

The origin of interspersed repeats in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377934

High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377934

A comprehensive genetic map of the human genome based on 5,264 microsatellites

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377934

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377934

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377934

Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377934

Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377934

Basic local alignment search tool

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377934

Nonhomologous recombination in the human genome: deletions in the human factor VIII gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377934

Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene

6 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10417278

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Fine mapping of the cystinosis gene using an integrated genetic and physical map of a region within human chromosome band 17p13

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10417278

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302509

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

PubMed publication ID

10417278

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417278%20AND%20SRC:MED&resulttype=core&format=json