(Q33856196)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20075206%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples (English)

1 reference

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16 January 2020

4

1 reference

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16 January 2020

Lars A Larsen

5

1 reference

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16 January 2020

8

Michael Christiansen

1 reference

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16 January 2020

7

Jan P Schouten

1 reference

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16 January 2020

author name string

Karina M Sørensen

1

1 reference

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16 January 2020

Peter Agergaard

2

1 reference

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16 January 2020

Charlotte Olesen

3

1 reference

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16 January 2020

John R Ostergaard

6

1 reference

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16 January 2020

publication date

14 January 2010

1 reference

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The Journal of Molecular Diagnostics

16 January 2020

published in

1 reference

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16 January 2020

volume

12

1 reference

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16 January 2020

issue

2

1 reference

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16 January 2020

page(s)

147-151

1 reference

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Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome

16 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871720

Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871720

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871720

Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871720

Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871720

MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871720

Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871720

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871720

Chromosomal microdeletions: dissecting del22q11 syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871720

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871720

Biological specimen banks in neonatal screening

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871720

A common molecular basis for rearrangement disorders on chromosome 22q11

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871720

DiGeorge syndrome: part of CATCH 22.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871720

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871720

Multiplex ligation-dependent probe amplification technique for copy number analysis on small amounts of DNA material.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871720

Screening for phenylketonuria

29 October 2018

1 reference

12 December 2020

The origin of newborn screening

1 reference

12 December 2020

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome

1 reference

12 December 2020

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification

1 reference

12 December 2020

10.2353/JMOLDX.2010.090099

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20075206%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20075206%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PubMed publication ID

20075206

1 reference