Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. (Q50313009)

2 March 2018

title

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. (English)

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2 March 2018

main subject

autism spectrum disorder

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autism

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Williams-Beuren syndrome

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1

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2 March 2018

Nicola Brunetti-Pierri

2

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James R. Lupski

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James R Lupski

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David T. Miller

10

David T Miller

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Sung-Hae L Kang

4

Sung-Hae L Kang

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2 March 2018

Sau Wai Cheung

23

Sau Wai Cheung

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2 March 2018

Debra Freedenberg

7

Debra Freedenberg

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2 March 2018

author name string

Sarika U Peters

3

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2 March 2018

Chin-to Fong

5

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2 March 2018

Jessica Salamone

6

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Vickie L Hannig

8

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2 March 2018

Lisa Albers Prock

9

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Peter Raffalli

11

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David J Harris

12

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Robert P Erickson

13

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Christopher Cunniff

14

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Gary D Clark

15

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Maria A Blazo

16

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Daniel A Peiffer

17

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Kevin L Gunderson

18

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Trilochan Sahoo

19

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2 March 2018

Ankita Patel

20

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2 March 2018

Arthur L Beaudet

22

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2 March 2018

language of work or name

English

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publication date

1 July 2007

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2 March 2018

published in

Genetics in Medicine

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2 March 2018

volume

9

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2 March 2018

page(s)

427-441

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issue

7

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2 March 2018

https://scigraph.springernature.com/pub.10.1097/gim.0b013e3180986192

exact match

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cites work

Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Prevalence estimation of Williams syndrome

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Genome architecture, rearrangements and genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Mutational mechanisms of Williams-Beuren syndrome deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

VI. Genome structure and cognitive map of Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

The DNA sequence of human chromosome 7

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

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

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Natural history of Williams syndrome: physical characteristics

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Williams-Beuren syndrome: genes and mechanisms

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Williams syndrome: cognition, personality, and adaptive behavior

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Identification of additional transcripts in the Williams-Beuren syndrome critical region

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

The murine CYLN2 gene: genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Williams-Beuren syndrome: a challenge for genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

GTF2IRD1 in craniofacial development of humans and mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

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

21 January 2018

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Recent segmental duplications in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

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

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

21 January 2018

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Familial Williams-Beuren syndrome showing varying clinical expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Mental disorders and problematic behaviours in people with intellectual disability: future directions for research

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Autism associated with Williams syndrome

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Brief report: four case histories and a literature review of Williams syndrome and autistic behavior

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Pragmatic language impairment and social deficits in Williams syndrome: a comparison with Down's syndrome and specific language impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

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/10.1097%2FGIM.0B013E3180986192

Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3180986192

10.1097/GIM.0B013E3180986192

21 January 2018

Identifiers

DOI

1 reference

2 March 2018

Dimensions Publication ID

0 references

1 reference

2 March 2018