(Q62937182)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221792%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221792%20AND%20SRC:MED&resulttype=core&format=json

hereditary multiple exostoses

30 December 2019

main subject

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221792%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

author name string

Marjolein Kriek

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221792%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Jan Schouten

5

1 reference

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30 December 2019

Stefan J White

1

1 reference

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30 December 2019

Geraldine R Vink

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221792%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Wim Wuyts

4

1 reference

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30 December 2019

Martijn H Breuning

7

1 reference

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30 December 2019

Johan T den Dunnen

8

1 reference

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30 December 2019

publication date

1 July 2004

1 reference

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30 December 2019

1 reference

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30 December 2019

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221792%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

issue

1

1 reference

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30 December 2019

page(s)

86-92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221792%20AND%20SRC:MED&resulttype=core&format=json

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

30 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

The detection of large deletions or duplications in genomic DNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

BLAT—The BLAST-Like Alignment Tool

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

An alternative to FISH: detecting deletion and duplication carriers within 24 hours

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

Burning down DEFECT11

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20054

7 January 2021

Identifiers

DOI

10.1002/HUMU.20054

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221792%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference