(Q53802124)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23341036%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas (English)

1 reference

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22 February 2020

7

1 reference

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22 February 2020

Cathelijn J F Waaijer

1

1 reference

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22 February 2020

Danielle de Jong

4

1 reference

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22 February 2020

Judith Bovée

6

1 reference

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22 February 2020

author name string

Marcel G T Winter

2

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22 February 2020

Christianne M A Reijnders

3

1 reference

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22 February 2020

S John Ham

5

1 reference

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22 February 2020

publication date

23 January 2013

1 reference

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Genes, Chromosomes and Cancer

22 February 2020

published in

1 reference

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22 February 2020

volume

52

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22 February 2020

issue

4

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22 February 2020

page(s)

431-436

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

22 February 2020

cites work

1 reference

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

21 January 2018

1 reference

Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity

21 January 2018

1 reference

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas

21 January 2018

1 reference

Positional cloning of a gene involved in hereditary multiple exostoses

21 January 2018

1 reference

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation

21 January 2018

1 reference

Targeted next-generation sequencing detects point mutations, insertions, deletions and balanced chromosomal rearrangements as well as identifies novel leukemia-specific fusion genes in a single procedure

21 January 2018

1 reference

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

Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria

21 January 2018

1 reference

7 January 2021

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

7 January 2021

Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?

1 reference

7 January 2021

Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations

1 reference

7 January 2021

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

1 reference

7 January 2021

Identifiers

DOI

10.1002/GCC.22041

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23341036%20AND%20SRC:MED&resulttype=core&format=json

release_cl4tzodiczbp7lzbzrhl6hp3t4

22 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/cl4tzodiczbp7lzbzrhl6hp3t4

24 November 2022

mapped directly with Wikidata item

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