VI. Genome structure and cognitive map of Williams syndrome (Q30909238)

27 June 2017

VI. Genome structure and cognitive map of Williams syndrome (English)

1 reference

27 June 2017

Korenberg JR

1

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27 June 2017

Chen XN

2

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27 June 2017

Hirota H

3

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27 June 2017

Lai Z

4

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27 June 2017

Bellugi U

5

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27 June 2017

Burian D

6

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27 June 2017

Roe B

7

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27 June 2017

Matsuoka R

8

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27 June 2017

1 January 2000

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Journal of Cognitive Neuroscience

27 June 2017

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27 June 2017

12 Suppl 1

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27 June 2017

89-107

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Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

27 June 2017

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

Molecular cloning and partial characterization of a new autoimmune thyroid disease-related antigen

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

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/10.1162%2F089892900562002

BAC and PAC contigs covering 3.5 Mb of the Down syndrome congenital heart disease region between D21S55 and MX1 on chromosome 21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

Localization of human CREBBP (CREB binding protein) to 16p13.3 by fluorescence in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

Toward a cDNA map of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

A novel human gene, WSTF, is deleted in Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

A novel human gene FKBP6 is deleted in Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

Natural history of Williams syndrome: physical characteristics

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

Genomic organization of the human PMS2 gene family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

Head circumference of children with Williams-Beuren syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

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/10.1162%2F089892900562002

Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1162%2F089892900562002

21 January 2018

Identifiers

DOI

10.1162/089892900562002

1 reference

27 June 2017

1 reference