EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. (Q24540139)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10441575%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

title

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas (English)

1 reference

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11 December 2019

0 references

1 reference

1

1 reference

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11 December 2019

Wim Van Hul

7

1 reference

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11 December 2019

Pancras C.W. Hogendoorn

9

1 reference

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11 December 2019

author name string

Cleton-Jansen AM

2

1 reference

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11 December 2019

Wuyts W

3

1 reference

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11 December 2019

Caethoven G

4

1 reference

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11 December 2019

Taminiau AH

5

1 reference

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11 December 2019

Bakker E

6

1 reference

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11 December 2019

Cornelisse CJ

8

1 reference

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11 December 2019

language of work or name

English

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publication date

1 September 1999

1 reference

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American Journal of Human Genetics

11 December 2019

published in

1 reference

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11 December 2019

volume

65

1 reference

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11 December 2019

issue

3

1 reference

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11 December 2019

page(s)

689-698

1 reference

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The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate

11 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=1377975

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Mutation and cancer: statistical study of retinoblastoma

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Positional cloning of a gene involved in hereditary multiple exostoses

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Incomplete penetrance and expressivity skewing in hereditary multiple exostoses

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Malignant transformation of a multiple cartilaginous exostosis--a case report

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

The world according to hedgehog

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

PCR-based microsatellite polymorphisms in the detection of loss of heterozygosity in fresh and archival tumour tissue

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

A gene for hereditary multiple exostoses maps to chromosome 19p.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

The natural history of hereditary multiple exostoses

27 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

27 September 2017

https://api.crossref.org/works/10.1086%2F302532

7 January 2021

inferred from DOI database lookup

Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Natural history study of hereditary multiple exostoses

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Convention on nomenclature for DNA cytometry. Committee on Nomenclature, Society for Analytical Cytology

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

A Detergent-trypsin method for the preparation of nuclei for flow cytometric DNA analysis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Tout-velu is a Drosophila homologue of the putative tumour suppressor EXT-1 and is needed for Hh diffusion

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Loss of chromosome band 8q24 in sporadic osteocartilaginous exostoses

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Evidence that natural selection acts on silent mutation

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

Somatic genetic changes on chromosome 18 in breast carcinomas: is the DCC gene involved?

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

BRCA1 mutations in primary breast and ovarian carcinomas

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377975

At least four different chromosomal regions are involved in loss of heterozygosity in human breast carcinoma

29 November 2018

1 reference

12 December 2020

Frequent somatic imbalance of marker alleles for chromosome 1 in human primary breast carcinoma

1 reference

12 December 2020

Loss of heterozygosity and tumor suppressor gene mutations in chondrosarcomas

1 reference

12 December 2020

Frequent loss of heterozygosity for markers on chromosome arm 10q in chondrosarcomas

1 reference

12 December 2020

Identification of novel mutations in the human EXT1 tumor suppressor gene

1 reference

12 December 2020

Standardization of high-resolution flow cytometric DNA analysis by the simultaneous use of chicken and trout red blood cells as internal reference standards

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302532

7 January 2021

inferred from DOI database lookup

Incomplete penetrance and expressivity skewing in hereditary multiple exostoses

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302532

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/302532

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10441575%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10441575%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

PubMed publication ID

10441575

1 reference