(Q34060432)

30 July 2017

title

Benign copy number changes in clinical cytogenetic diagnostics by array CGH (English)

1 reference

30 July 2017

H Whitby

1

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30 July 2017

A Tsalenko

2

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30 July 2017

E Aston

3

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30 July 2017

P Tsang

4

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30 July 2017

S Mitchell

5

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30 July 2017

P Bayrak-Toydemir

6

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30 July 2017

C Hopkins

7

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30 July 2017

G Peters

8

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30 July 2017

D K Bailey

9

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30 July 2017

L Bruhn

10

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30 July 2017

A R Brothman

11

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30 July 2017

publication date

1 January 2008

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Cytogenetics and Genome Research

30 July 2017

published in

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30 July 2017

volume

123

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30 July 2017

issue

1-4

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30 July 2017

page(s)

94-101

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Mapping and sequencing of structural variation from eight human genomes

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=2920185

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2920185

The fine-scale and complex architecture 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=2920185

Genotype, haplotype and copy-number variation in worldwide human populations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2920185

Paired-end mapping reveals extensive structural variation 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=2920185

Challenges and standards in integrating surveys of structural 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=2920185

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2920185

Methods and strategies for analyzing copy number variation using DNA microarrays

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2920185

Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR 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=2920185

Systematic prediction and validation of breakpoints associated with copy-number variants 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=2920185

Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic 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=2920185

Global variation in copy number 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=2920185

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2920185

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2920185

Discovery of previously unidentified genomic disorders from the duplication architecture 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=2920185

Efficient calculation of interval scores for DNA copy number data 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=2920185

Detection of large-scale variation 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=2920185

Large-scale copy number polymorphism 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=2920185

Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2920185

Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2920185

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2920185

Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2920185

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2920185

28 October 2018

Identifiers

DOI

10.1159/000184696

1 reference

30 July 2017

1 reference

30 July 2017

1 reference