Redefining the MED13L syndrome (Q36116727)

12 August 2017

Redefining the MED13L syndrome (English)

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12 August 2017

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12 August 2017

João Silva

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Fátima Lopes

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Fátima Lopes

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Bert Callewaert

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Bert Callewaert

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Angela Kaindl

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Angela M Kaindl

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12 August 2017

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Andrew Chess

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12 August 2017

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Björn Menten

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12 August 2017

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Hans-Hilger Ropers

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12 August 2017

Abidemi Adegbola

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12 August 2017

Luciana Musante

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12 August 2017

Hao Hu

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12 August 2017

Bertrand Isidor

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12 August 2017

Sylvie Picker-Minh

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12 August 2017

Cedric Le Caignec

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12 August 2017

Barbara Delle Chiaie

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12 August 2017

Olivier Vanakker

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12 August 2017

Annelies Dheedene

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12 August 2017

Nele Bockaert

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12 August 2017

Filip Roelens

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12 August 2017

Karin Decaestecker

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12 August 2017

Gabriela Soares

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12 August 2017

Kimia Kahrizi

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12 August 2017

Gerald F Cox

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12 August 2017

Steven P Angus

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12 August 2017

John F Staropoli

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12 August 2017

Ute Fischer

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12 August 2017

Vanessa Suckow

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12 August 2017

Oliver Bartsch

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12 August 2017

Thomas F Wienker

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12 August 2017

Christoph Hübner

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12 August 2017

11 March 2015

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European Journal of Human Genetics

12 August 2017

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12 August 2017

1308-1317

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https://scigraph.springernature.com/pub.10.1038/ejhg.2015.26

12 August 2017

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cites work

De novo mutations in moderate or severe intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Genome sequencing identifies major causes of severe intellectual disability

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Analysis of mutations in 7 candidate genes for dextro-Transposition of the great arteries in Chinese population

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Further confirmation of the MED13L haploinsufficiency syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

The roles of mediator complex in cardiovascular diseases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Of mice and men: molecular genetics of congenital heart disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Mutations in MED12 cause X-linked Ohdo syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

The SCF-Fbw7 ubiquitin ligase degrades MED13 and MED13L and regulates CDK8 module association with Mediator

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

De Novo Gene Disruptions in Children on the Autistic Spectrum

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Mediator complex proteins are required for diverse developmental processes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Interactions between subunits of the Mediator complex with gene-specific transcription factors

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

The human Mediator complex: a versatile, genome-wide regulator of transcription

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Across array comparative genomic hybridization: a strategy to reduce reference channel hybridizations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

The human CDK8 subcomplex is a molecular switch that controls Mediator coactivator function

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Rapid detection of VHL exon deletions using real-time quantitative PCR.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4592099

21 October 2018

Identifiers

DOI

10.1038/EJHG.2015.26

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12 August 2017

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12 August 2017

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