(Q33942525)

30 July 2017

title

Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families (English)

1 reference

30 July 2017

Wim Wuyts

6

0 references

Karoly Szuhai

object named as

Karoly Szuhai

5

0 references

Danielle de Jong

object named as

Danielle de Jong

2

0 references

Pancras C.W. Hogendoorn

4

object named as

Pancras C W Hogendoorn

1 reference

30 July 2017

Ivy Jennes

1

1 reference

30 July 2017

Kirsten Mees

3

1 reference

30 July 2017

publication date

26 June 2011

1 reference

30 July 2017

1 reference

30 July 2017

volume

12

1 reference

30 July 2017

page(s)

85

1 reference

Genomic rearrangements in inherited disease and cancer

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

A microhomology-mediated break-induced replication model for the origin of human copy number variation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

The mechanism of human nonhomologous DNA end joining

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

Alu recombination-mediated structural deletions in the chimpanzee genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

Useful 'junk': Alu RNAs in the human transcriptome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

Human genomic deletions mediated by recombination between Alu elements.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

SINEs point to abundant editing in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

Yeast Mre11 and Rad1 proteins define a Ku-independent mechanism to repair double-strand breaks lacking overlapping end sequences

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

Initial sequencing and analysis of the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

Alu repeats and human disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

Genomic organization and promoter structure of the human EXT1 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans

5 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

5 July 2018

https://api.crossref.org/works/10.1186%2F1471-2350-12-85

Positional cloning of a gene involved in hereditary multiple exostoses

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

The natural history of hereditary multiple exostoses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

Natural history study of hereditary multiple exostoses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

5 July 2018

Langer-Giedion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

Nonviral retroposons: genes, pseudogenes, and transposable elements generated by the reverse flow of genetic information

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

Hereditary multiple exostoses.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152881

Incidence of biopsy-proven bone tumors in children: a report based on the Dutch pathology registration "PALGA".

5 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-85

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-85

NF2 gene in neurofibromatosis type 2 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-85

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-85

Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21703028

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21703028

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple o

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21703028

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-12-85

1 reference

Dimensions Publication ID

30 July 2017

0 references

1 reference

30 July 2017

1 reference