(Q28187660)

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Xiao-Ning Chen

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Lora S Salandanan

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Alan Lincoln

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Fredric E Rose

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Mariko Sunahara

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Makiko Osawa

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Julie R Korenberg

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

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language of work or name

English

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publication date

2003

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311-21

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cites work

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

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%2F01.GIM.0000076975.10224.67

A novel human gene FKBP6 is deleted in Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

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

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

A novel family of bromodomain genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

Mapping of the human HPC-1/syntaxin 1A gene (STX1A) to chromosome 7 band q11.2

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

Claudin-1 and -2: novel integral membrane proteins localizing at tight junctions with no sequence similarity to occludin

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

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/10.1097%2F01.GIM.0000076975.10224.67

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

Assignment of the 36.5-kDa (RFC5), 37-kDa (RFC4), 38-kDa (RFC3), and 40-kDa (RFC2) subunit genes of human replication factor C to chromosome bands 12q24.2-q24.3, 3q27, 13q12.3-q13, and 7q11.23

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

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

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

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/10.1097%2F01.GIM.0000076975.10224.67

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

Natural history of Williams syndrome: physical characteristics

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

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/10.1097%2F01.GIM.0000076975.10224.67

VI. Genome structure and cognitive map of Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

Using fluorescence in situ hybridization (FISH) in genome mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

Hemispheric organization of local- and global-level visuospatial processes in deaf signers and its relation to sign language aphasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

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/10.1097%2F01.GIM.0000076975.10224.67

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/10.1097%2F01.GIM.0000076975.10224.67

Visuospatial construction

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

Down syndrome phenotypes: the consequences of chromosomal imbalance

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

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

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

Localization of the HumanHIP1Gene Close to the Elastin (ELN) Locus on 7q11.23

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67

Assignment of the human and mouse LIM-kinase genes (LIMK1; Limk1) to chromosome bands 7q11.23 and 5G1, respectively, by in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000076975.10224.67