(Q36943622)

17 August 2017

1 reference

title

Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs (English)

1 reference

17 August 2017

main subject

whole genome sequencing

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Swaroop Aradhya

1

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17 August 2017

Athena M Cherry

series ordinal

2

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17 August 2017

language of work or name

English

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publication date

1 September 2007

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17 August 2017

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17 August 2017

volume

9

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17 August 2017

issue

9

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17 August 2017

page(s)

553-559

1 reference

https://scigraph.springernature.com/pub.10.1097/gim.0b013e318149e354

17 August 2017

exact match

0 references

cites work

Human cytogenetics: 46 chromosomes, 46 years and counting.

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The new cytogenetics: blurring the boundaries with molecular biology

21 January 2018

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Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

21 January 2018

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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

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E354

Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.

21 January 2018

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Detection of large-scale variation in the human genome

21 January 2018

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Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.

21 January 2018

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Accurate and reliable high-throughput detection of copy number variation in the human genome

21 January 2018

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Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.

21 January 2018

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The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

21 January 2018

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American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

21 January 2018

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Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

21 January 2018

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Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

21 January 2018

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Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the 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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Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH.

21 January 2018

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Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.

21 January 2018

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Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E354

BAC array CGH reveals genomic aberrations in idiopathic mental retardation.

21 January 2018

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

21 January 2018

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Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.

21 January 2018

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

21 January 2018

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

21 January 2018

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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

21 January 2018

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Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes

21 January 2018

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Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

21 January 2018

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Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E354

Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E354

Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features.

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E354

Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E354

Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect

21 January 2018

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Global variation in copy number in the human genome

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E354

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E354

Structural variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E354

Copy number variation: new insights in genome diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E354

A comprehensive analysis of common copy-number variations in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E354

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E354

Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E354

Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E354

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E354

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E354

10.1097/GIM.0B013E318149E354

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

17 August 2017

1030575757

0 references

1 reference