Development and validation of a CGH microarray for clinical cytogenetic diagnosis (Q57537935)

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31 December 2019

title

Development and validation of a CGH microarray for clinical cytogenetic diagnosis (English)

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31 December 2019

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2

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31 December 2019

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James R Lupski

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Pawel Stankiewicz

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A Craig Chinault

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31 December 2019

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Patti Furman

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object named as

Patti Furman

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31 December 2019

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author name string

Sau W Cheung

1

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31 December 2019

Wei Yu

3

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31 December 2019

Jiangzham Li

4

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31 December 2019

Zhishuo Ou

5

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31 December 2019

Ankita Patel

6

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Svetlana A Yatsenko

7

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Mitchell L Cooper

8

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Arthur L Beaudet

13

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31 December 2019

language of work or name

English

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publication date

1 July 2005

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31 December 2019

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31 December 2019

volume

7

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issue

6

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31 December 2019

page(s)

422-432

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Immunological method for mapping genes on Drosophila polytene chromosomes

31 December 2019

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Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

21 January 2018

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Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

21 January 2018

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The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

21 January 2018

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

21 January 2018

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Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors

21 January 2018

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Assembly of microarrays for genome-wide measurement of DNA copy number

21 January 2018

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Development of NF2 gene specific, strictly sequence defined diagnostic microarray for deletion detection.

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Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

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

21 January 2018

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BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications

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A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications

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High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.

21 January 2018

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

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

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 January 2018

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Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

21 January 2018

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Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders

21 January 2018

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

21 January 2018

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An orderly retreat: Dedifferentiation is a regulated process

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A comparison of normalization methods for high density oligonucleotide array data based on variance and bias

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Normalization for cDNA microarray data: a robust composite method addressing single and multiple slide systematic variation

21 January 2018

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

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Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization

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Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

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Mapping and initial analysis of human subtelomeric sequence assemblies

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Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

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An 18q- syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA.

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Characterization of terminal deletions at 7q32 and 22q13.3 healed by De novo telomere addition

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Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

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Large-scale copy number polymorphism in the human genome

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21 January 2018

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Detection of large-scale variation in the human genome

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Applications of genomic microarrays to explore human chromosome structure and function.

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

21 January 2018

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10.1097/01.GIM.0000170992.63691.32

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

31 December 2019

1026946876

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1 reference