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

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

21 June 2018

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

21 June 2018

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Structural variation in the human genome

21 June 2018

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GTF2IRD1 in craniofacial development of humans and mice

21 June 2018

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

21 June 2018

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

21 June 2018

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Segmental duplications and copy-number variation in the human genome

21 June 2018

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Fine-scale structural variation of the human genome

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 January 2018

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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

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

21 January 2018

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

21 January 2018

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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

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12 December 2020

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

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

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12 December 2020

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

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12 December 2020

10.1371/JOURNAL.PONE.0012349

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DOI

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28 July 2017

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28 July 2017

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