(Q36863518)

16 August 2017

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title

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders (English)

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16 August 2017

Charles Lee

1

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16 August 2017

A John Iafrate

series ordinal

2

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16 August 2017

Arthur R Brothman

series ordinal

3

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16 August 2017

language of work or name

English

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publication date

1 July 2007

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16 August 2017

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16 August 2017

volume

39

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16 August 2017

issue

7 Suppl

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16 August 2017

page(s)

S48-54

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Interstitial deletion of 6q without phenotypic effect

16 August 2017

cites work

1 reference

Detection of large-scale variation in the human genome

21 January 2018

1 reference

7 January 2021

Large-scale copy number polymorphism in the human genome

1 reference

7 January 2021

Structural variation in the human genome

1 reference

7 January 2021

Copy number variation: new insights in genome diversity

1 reference

7 January 2021

Challenges and standards in integrating surveys of structural variation

1 reference

7 January 2021

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

1 reference

7 January 2021

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

1 reference

7 January 2021

Application of array-based comparative genomic hybridization to clinical diagnostics

1 reference

7 January 2021

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

1 reference

7 January 2021

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

7 January 2021

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

7 January 2021

Diagnostic genome profiling: unbiased whole genome or targeted analysis?

1 reference

7 January 2021

Diagnostic genome profiling in mental retardation

1 reference

7 January 2021

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

1 reference

7 January 2021

Global variation in copy number in the human genome

1 reference

7 January 2021

Allele quantification using molecular inversion probes (MIP).

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans

1 reference

7 January 2021

A high-resolution survey of deletion polymorphism in the human genome

1 reference

7 January 2021

Common deletion polymorphisms in the human genome.

1 reference

7 January 2021

Genome assembly comparison identifies structural variants in the human genome.

1 reference

7 January 2021

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis

1 reference

7 January 2021

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

1 reference

7 January 2021

Relative impact of nucleotide and copy number variation on gene expression phenotypes

1 reference

7 January 2021

A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Subtle chromosomal rearrangements in children with unexplained mental retardation

1 reference

7 January 2021

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

1 reference

7 January 2021

"Molecular rulers" for calibrating phenotypic effects of telomere imbalance

1 reference

7 January 2021

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

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG2092

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16 August 2017

1 reference