(Q51893693)

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Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.

scientific article published on 20 February 2008

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scholarly article

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms. (English)

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

object named as

Sok Kean Khoo

7

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author name string

Zhong-Fa Zhang

1

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

Claudia Ruivenkamp

2

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

Johan Staaf

3

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

Hongbo Zhu

4

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

Michela Barbaro

5

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

David Petillo

6

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

Ake Borg

8

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

Yao-Shan Fan

9

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

Jacqueline Schoumans

10

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

publication date

20 February 2008

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

European Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

16

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

7

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

786-792

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

Diagnostic genome profiling in mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Whole-genome array comparative genome hybridization: the preferred diagnostic choice in postnatal clinical cytogenetics

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

FISH-mapping of a 100-kb terminal 22q13 deletion

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3).

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

A set of BAC clones spanning the human genome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

High-resolution genomic profiles of breast cancer cell lines assessed by tiling BAC array comparative genomic hybridization

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Characterisation of dic(9;20)(p11-13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

BioArray Software Environment (BASE): a platform for comprehensive management and analysis of microarray data.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Analysis of array CGH data: from signal ratio to gain and loss of DNA regions

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Guidelines for molecular karyotyping in constitutional genetic diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Resolving the resolution of array CGH.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Detection of large-scale variation in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Large-scale copy number polymorphism in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Global variation in copy number in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.14

21 January 2018

Identifiers

10.1038/EJHG.2008.14

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18285835

ResearchGate publication ID

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