(Q33687259)

28 July 2017

title

Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome (English)

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28 July 2017

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intellectual disability

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disability affecting intellectual abilities

inferred from title

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11

Ronald G Gregg

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28 July 2017

3

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Carolyn B Mervis

4

object named as

Carolyn B Mervis

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28 July 2017

Ariel M Pani

1

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28 July 2017

Holly H Hobart

2

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28 July 2017

Patricia Bray-Ward

5

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28 July 2017

Kendra W Kimberley

6

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28 July 2017

Cecilia M Rios

7

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28 July 2017

Robin C Clark

8

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28 July 2017

Maricela D Gulbronson

9

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28 July 2017

Gordon C Gowans

10

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28 July 2017

language of work or name

English

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publication date

31 August 2010

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28 July 2017

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28 July 2017

volume

5

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28 July 2017

issue

8

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28 July 2017

page(s)

e12349

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Creative Commons Attribution 4.0 International

28 July 2017

copyright license

start time

31 August 2010

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome

1 reference

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21 June 2018

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

21 June 2018

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Emerging themes and new challenges in defining the role of structural variation in human disease

21 June 2018

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Novel microdeletion syndromes detected by chromosome microarrays

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

Global variation in copy number in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

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

21 June 2018

1 reference

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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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

Structural variation in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

GTF2IRD1 in craniofacial development of humans and mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

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

21 June 2018

1 reference

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Severe expressive-language delay related to duplication of the Williams-Beuren locus

21 June 2018

1 reference

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Diagnostic genome profiling in mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

Segmental duplications and copy-number variation in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

Fine-scale structural variation of the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

Detection of large-scale variation in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

Large-scale copy number polymorphism in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

Mutational mechanisms of Williams-Beuren syndrome deletions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

The UCSC Genome Browser Database

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

BLAT—The BLAST-Like Alignment Tool

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

Segmental duplications: organization and impact within the current human genome project assembly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

Model-based analysis of oligonucleotide arrays: expression index computation and outlier detection

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930846

Genome structural variation and sporadic disease traits

21 June 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012349

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012349

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012349

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012349

An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012349

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012349

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012349

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

21 January 2018

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12 December 2020

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

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12 December 2020

Adaptor ligation-based polymerase chain reaction-mediated walking

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12 December 2020

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

12 December 2020

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays

1 reference

12 December 2020

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

1 reference

12 December 2020

Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0012349

Identifiers

DOI

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28 July 2017

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28 July 2017

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