Genotype-phenotype correlation in hereditary multiple exostoses (Q24672770)

From Wikidata

Jump to navigation Jump to search

scientific article

edit

Language	Label	Description	Also known as
English	Genotype-phenotype correlation in hereditary multiple exostoses	scientific article

Statements

instance of

scholarly article

0 references

title

Genotype-phenotype correlation in hereditary multiple exostoses (English)

0 references

main subject

genotype-phenotype correlation

1 reference

based on heuristic

inferred from title

hereditary multiple exostoses

1 reference

based on heuristic

inferred from title

phenotype

1 reference

based on heuristic

inferred from title

author

Arnold Munnich

series ordinal

4

0 references

author name string

C Francannet

series ordinal

1

0 references

A Cohen-Tanugi

series ordinal

2

0 references

M Le Merrer

series ordinal

3

0 references

J Bonaventure

series ordinal

5

0 references

L Legeai-Mallet

series ordinal

6

0 references

language of work or name

English

0 references

publication date

July 2001

0 references

published in

Journal of Medical Genetics

0 references

volume

38

0 references

issue

7

0 references

page(s)

430-4

0 references

cites work

The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

7 April 2017

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

7 April 2017

Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

7 April 2017

Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

7 April 2017

Genetic heterogeneity in families with hereditary multiple exostoses

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

7 April 2017

Mutation and cancer: statistical study of retinoblastoma

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

7 April 2017

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

7 April 2017

Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

7 April 2017

Mutation analysis of hereditary multiple exostoses in the Chinese

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

7 April 2017

Positional cloning of a gene involved in hereditary multiple exostoses

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

7 April 2017

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

7 April 2017

Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

28 September 2017

Identification and characterization of a novel member of the EXT gene family, EXTL2.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

28 September 2017

Incomplete penetrance and expressivity skewing in hereditary multiple exostoses

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

28 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

28 September 2017

The natural history of hereditary multiple exostoses

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

28 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

28 September 2017

Natural history study of hereditary multiple exostoses

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

28 September 2017

Location of the glucuronosyltransferase domain in the heparan sulfate copolymerase EXT1 by analysis of Chinese hamster ovary cell mutants

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

30 May 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

30 May 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

30 May 2018

Clinical correlation to genetic variations of hereditary multiple exostosis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757186

retrieved

28 November 2018

Identifiers

DOI

10.1136/JMG.38.7.430

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

328399

OpenCitations bibliographic resource ID

328399

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

328399

PMC publication ID

1757186

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

328399

PubMed publication ID

11432960

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

328399

ResearchGate publication ID

273569568

0 references

 

Sitelinks

Wikipedia(0 entries)

edit

Wikibooks(0 entries)

edit

Wikinews(0 entries)

edit

Wikiquote(0 entries)

edit

Wikisource(0 entries)

edit

Wikiversity(0 entries)

edit

Wikivoyage(0 entries)

edit

Wiktionary(0 entries)

edit

Multilingual sites(0 entries)

edit

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24672770&oldid=1697828392"