(Q34576763)

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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

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3 August 2017

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome (English)

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3 August 2017

John Marius Opitz

5

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John M Opitz

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3 August 2017

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Hiba Risheg

1

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3 August 2017

John M Graham

2

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3 August 2017

Robin D Clark

3

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3 August 2017

R Curtis Rogers

4

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3 August 2017

John B Moeschler

6

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3 August 2017

Andreas P Peiffer

7

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3 August 2017

Melanie May

8

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3 August 2017

Sumy M Joseph

9

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3 August 2017

Julie R Jones

10

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3 August 2017

Roger E Stevenson

11

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3 August 2017

Charles E Schwartz

12

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3 August 2017

Michael J Friez

13

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3 August 2017

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publication date

4 March 2007

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3 August 2017

Nature Genetics

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3 August 2017

39

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3 August 2017

4

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3 August 2017

451-453

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3 August 2017

The FG syndrome: report of a large Italian series

1 reference

https://api.crossref.org/works/10.1038/NG1992

21 January 2018

X-linked mental retardation: further lumping, splitting and emerging phenotypes

1 reference

https://api.crossref.org/works/10.1038/NG1992

7 January 2021

based on heuristic

inferred from DOI database lookup

Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation

1 reference

https://api.crossref.org/works/10.1038/NG1992

7 January 2021

based on heuristic

inferred from DOI database lookup

Association of an X-chromosome dodecamer insertional variant allele with mental retardation

1 reference

https://api.crossref.org/works/10.1038/NG1992

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation

1 reference

https://api.crossref.org/works/10.1038/NG1992

7 January 2021

based on heuristic

inferred from DOI database lookup

Association studies of the HOPA dodecamer duplication variant in different subtypes of autism

1 reference

https://api.crossref.org/works/10.1038/NG1992

7 January 2021

based on heuristic

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Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene

1 reference

https://api.crossref.org/works/10.1038/NG1992

7 January 2021

based on heuristic

inferred from DOI database lookup

Two subunits of the Drosophila mediator complex act together to control cell affinity

1 reference

https://api.crossref.org/works/10.1038/NG1992

7 January 2021

based on heuristic

inferred from DOI database lookup

The zebrafish kohtalo/trap230 gene is required for the development of the brain, neural crest, and pronephric kidney

1 reference

https://api.crossref.org/works/10.1038/NG1992

7 January 2021

based on heuristic

inferred from DOI database lookup

Zebrafish Trap230/Med12 is required as a coactivator for Sox9-dependent neural crest, cartilage and ear development

1 reference

https://api.crossref.org/works/10.1038/NG1992

7 January 2021

based on heuristic

inferred from DOI database lookup

A subunit of the mediator complex regulates vertebrate neuronal development

1 reference

https://api.crossref.org/works/10.1038/NG1992

7 January 2021

based on heuristic

inferred from DOI database lookup

Mediator modulates Gli3-dependent Sonic hedgehog signaling

1 reference

https://api.crossref.org/works/10.1038/NG1992

7 January 2021

based on heuristic

inferred from DOI database lookup

Mediator is a transducer of Wnt/beta-catenin signaling.

1 reference

https://api.crossref.org/works/10.1038/NG1992

7 January 2021

based on heuristic

inferred from DOI database lookup

Systematic mapping of genetic interactions in Caenorhabditis elegans identifies common modifiers of diverse signaling pathways

1 reference

https://api.crossref.org/works/10.1038/NG1992

7 January 2021

based on heuristic

inferred from DOI database lookup

A gene for FG syndrome maps in the Xq12-q21.31 region

1 reference

https://api.crossref.org/works/10.1038/NG1992

7 January 2021

based on heuristic

inferred from DOI database lookup

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Europe PubMed Central

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3 August 2017

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3 August 2017

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