(Q52578534)

English

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.

scientific article published on 18 April 2007

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scholarly article

1 reference

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29 December 2019

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome (English)

1 reference

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29 December 2019

0 references

6

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29 December 2019

3

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29 December 2019

author name string

Johannes G Dauwerse

1

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29 December 2019

Bert B A de Vries

2

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29 December 2019

Egbert Bakker

4

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29 December 2019

Gudrun Rappold

5

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29 December 2019

Martijn H Breuning

7

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29 December 2019

Dorien J M Peters

8

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29 December 2019

publication date

18 April 2007

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29 December 2019

European Journal of Human Genetics

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29 December 2019

15

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29 December 2019

7

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29 December 2019

743-751

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29 December 2019

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201833

0 references

Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201833

7 January 2021

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Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201833

7 January 2021

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Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201833

7 January 2021

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Scanning for genes in large genomic regions: cosmid-based exon trapping of multiple exons in a single product.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201833

7 January 2021

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Construction and characterization of a normalized cDNA library

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201833

7 January 2021

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A superfamily of membrane-bound O-acyltransferases with implications for wnt signaling

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201833

7 January 2021

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Skinny hedgehog, an acyltransferase required for palmitoylation and activity of the hedgehog signal

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201833

7 January 2021

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Drosophila wnt-1 undergoes a hydrophobic modification and is targeted to lipid rafts, a process that requires porcupine

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201833

7 January 2021

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Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201833

7 January 2021

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Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201833

7 January 2021

based on heuristic

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Indian hedgehog: its roles and regulation in endochondral bone development

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201833

7 January 2021

based on heuristic

inferred from DOI database lookup

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