(Q35444340)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591277%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

title

Molecular karyotyping using an SNP array for genomewide genotyping (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591277%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

0 references

6

1 reference

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6 January 2020

André Reis

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591277%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

author name string

Rauch A

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591277%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Rüschendorf F

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591277%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Huang J

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591277%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Trautmann U

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591277%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Becker C

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591277%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Jones KW

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591277%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Nürnberg P

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591277%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

language of work or name

English

0 references

publication date

1 December 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591277%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

6 January 2020

published in

1 reference

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6 January 2020

volume

41

1 reference

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6 January 2020

page(s)

916-922

1 reference

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6 January 2020

issue

12

1 reference

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Whole genome DNA copy number changes identified by high density oligonucleotide arrays

6 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=1735639

Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

High-resolution analysis of DNA copy number using oligonucleotide microarrays

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

Monosomy 1p36--a recently delineated, clinically recognizable syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

An optimized set of human telomere clones for studying telomere integrity and architecture.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

Search for somatic 22q11.2 deletions in patients with conotruncal heart defects.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

A novel 5q35.3 subtelomeric deletion syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735639

GRR: graphical representation of relationship errors

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15591277

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A tiling resolution DNA microarray with complete coverage of the human genome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15591277

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2004.022855

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591277%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591277%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference