(Q43232391)

16 November 2017

0 references

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene (English)

1 reference

16 November 2017

17

1 reference

16 November 2017

8

P Andrew Futreal

1 reference

16 November 2017

Alain Verloes

4

1 reference

16 November 2017

10

Jon Teague

1 reference

16 November 2017

18

Michael R Stratton

1 reference

16 November 2017

14

Richard J Simensen

1 reference

16 November 2017

Charles E Schwartz

1

1 reference

16 November 2017

Patrick S Tarpey

2

1 reference

16 November 2017

Herbert A Lubs

3

1 reference

16 November 2017

Melanie M May

5

1 reference

16 November 2017

Hiba Risheg

6

1 reference

16 November 2017

Michael J Friez

7

1 reference

16 November 2017

Sarah Edkins

9

1 reference

16 November 2017

Sylvain Briault

11

1 reference

16 November 2017

Cindy Skinner

12

1 reference

16 November 2017

Astrid Bauer-Carlin

13

1 reference

16 November 2017

Sumy M Joseph

15

1 reference

16 November 2017

Julie R Jones

16

1 reference

16 November 2017

F Lucy Raymond

19

1 reference

16 November 2017

Roger E Stevenson

20

1 reference

16 November 2017

language of work or name

English

0 references

publication date

16 March 2007

1 reference

Journal of Medical Genetics

16 November 2017

1 reference

16 November 2017

44

1 reference

16 November 2017

7

1 reference

16 November 2017

472-477

1 reference

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

16 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

Mediator modulates Gli3-dependent Sonic hedgehog signaling

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

Renpenning syndrome comes into focus

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

The mediator of RNA polymerase II.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

Splitting and lumping in the nosology of XLMR.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

A C. elegans mediator protein confers regulatory selectivity on lineage-specific expression of a transcription factor gene

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

Ligand induction of a transcriptionally active thyroid hormone receptor coactivator complex

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

A form of X-linked mental retardation with marfanoid habitus

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

X-linked mental retardation with marfanoid habitus

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

X-linked mental retardation with marfanoid habitus: first report of four Italian patients

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

X-linked mental retardation with Marfanoid habitus: a changing phenotype with age?

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

Lujan syndrome in a Mexican boy.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

The FG syndrome: report of a large Italian series.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

Drosophila homologues of the transcriptional coactivation complex subunits TRAP240 and TRAP230 are required for identical processes in eye-antennal disc development.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597996

15 August 2018

Identifiers

DOI

10.1136/JMG.2006.048637

1 reference

16 November 2017

1 reference

16 November 2017

PubMed publication ID

17369503

1 reference