Williams-Beuren syndrome: a challenge for genotype-phenotype correlations (Q35210607)

7 August 2017

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title

Williams-Beuren syndrome: a challenge for genotype-phenotype correlations (English)

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7 August 2017

Williams-Beuren syndrome

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Tassabehji M

1

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7 August 2017

2 September 2003

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7 August 2017

Human Molecular Genetics

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7 August 2017

12 Spec No 2

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7 August 2017

R229-37

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Natural history of Williams syndrome: physical characteristics

7 August 2017

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Visuospatial construction

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Elastin: mutational spectrum in supravalvular aortic stenosis.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

The fine structure of elastic fibers

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Music skills and the expressive interpretation of music in children with Williams-Beuren syndrome: pitch, rhythm, melodic imagery, phrasing, and musical affect.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

I. The neurocognitive profile of Williams Syndrome: a complex pattern of strengths and weaknesses

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Cognitive modularity and genetic disorders.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Development itself is the key to understanding developmental disorders

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Language and Williams syndrome: how intact is "intact"?

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Language acquisition in special populations: a comparison between Down and Williams syndromes.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Configural and local processing of faces in children with Williams syndrome.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Neural correlates of auditory perception in Williams syndrome: an fMRI study.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Emotional responses to pleasant and unpleasant music correlate with activity in paralimbic brain regions.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

IV. Neuroanatomy of Williams syndrome: a high-resolution MRI study

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Cerebellar abnormalities in infants and toddlers with Williams syndrome.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Williams syndrome: neuronal size and neuronal-packing density in primary visual cortex.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Hemispheric control of territorial aggression in Anolis carolinensis: effects of mild stress.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Genomic disorders on 22q11

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

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/10.1093%2FHMG%2FDDG299

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Function and assembly of nuclear pore complex proteins

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

A novel human gene FKBP6 is deleted in Williams syndrome

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

The BCL7 gene family: deletion of BCL7B in Williams syndrome.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

MondoA, a novel basic helix-loop-helix-leucine zipper transcriptional activator that constitutes a positive branch of a max-like network

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Cloning and sequence analysis of a cDNA encoding human syntaxin 1A, a polypeptide essential for exocytosis

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Analysis of a human gene homologous to rat ventral prostate.1 protein

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Clostridium perfringens enterotoxin utilizes two structurally related membrane proteins as functional receptors in vivo

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Elastin is an essential determinant of arterial morphogenesis

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

LIM-kinase deleted in Williams syndrome.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Signaling from Rho to the actin cytoskeleton through protein kinases ROCK and LIM-kinase

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Purification and characterization of a new eukaryotic protein translation factor. Eukaryotic initiation factor 4H

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

LAB: a new membrane-associated adaptor molecule in B cell activation

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

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

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Mutational mechanisms of Williams-Beuren syndrome deletions

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Novel arterial pathology in mice and humans hemizygous for elastin

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Structure and function of dendritic spines

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Identification and characterization of TESK2, a novel member of the LIMK/TESK family of protein kinases, predominantly expressed in testis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

CLIP-115, a novel brain-specific cytoplasmic linker protein, mediates the localization of dendritic lamellar bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Integration of a c-myc transgene results in disruption of the mouse Gtf2ird1 gene, the homologue of the human GTF2IRD1 gene hemizygously deleted in Williams-Beuren syndrome.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Biochemistry and biology of the inducible multifunctional transcription factor TFII-I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Molecular dissection of DNA sequences and factors involved in slow muscle-specific transcription

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Signals from the X: signal transduction and X-linked mental retardation

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Rho family GTPases as key regulators for neuronal network formation.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG299

21 January 2018

Identifiers

DOI

10.1093/HMG/DDG299

1 reference

7 August 2017

1 reference

PubMed ID

12952863