| scholarly article | Q13442814 |
| P50 | author | Anita Rauch | Q21253643 |
| Soaham Desai | Q56989543 | ||
| Frenny Sheth | Q89789117 | ||
| Joris Andrieux | Q98704316 | ||
| P2093 | author name string | Gunnar Houge | |
| Silvia Azzarello-Burri | |||
| Pascal Joset | |||
| Walter Knirsch | |||
| Beatrice Oneda | |||
| Beatrice Latal | |||
| Alessandra Baumer | |||
| Reza Asadollahi | |||
| Rosa Baldinger | |||
| P2860 | cites work | A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology | Q24294905 |
| Microduplication and triplication of 22q11.2: a highly variable syndrome | Q24531527 | ||
| Current perspectives of the signaling pathways directing neural crest induction | Q27024905 | ||
| Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm | Q28588434 | ||
| The TRAP100 component of the TRAP/Mediator complex is essential in broad transcriptional events and development | Q28592968 | ||
| Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex | Q34300787 | ||
| A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome | Q34576763 | ||
| Function and regulation of the Mediator complex | Q34904976 | ||
| Requirements for mediator complex subunits distinguish three classes of notch target genes at the Drosophila wing margin | Q35341419 | ||
| A comprehensive analysis of common copy-number variations in the human genome | Q35616521 | ||
| A role for Mediator complex subunit MED13L in Rb/E2F-induced growth arrest | Q36998972 | ||
| Drosophila TRAP230/240 are essential coactivators for Atonal in retinal neurogenesis | Q41375077 | ||
| A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation | Q41919513 | ||
| Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). | Q41921707 | ||
| cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2. | Q42627253 | ||
| The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene | Q43232391 | ||
| The Caenorhabditis elegans ortholog of TRAP240, CeTRAP240/let-19, selectively modulates gene expression and is essential for embryogenesis | Q43649651 | ||
| Components of the transcriptional Mediator complex are required for asymmetric cell division in C. elegans | Q47069510 | ||
| Two subunits of the Drosophila mediator complex act together to control cell affinity | Q47070617 | ||
| Deep sequencing reveals 50 novel genes for recessive cognitive disorders | Q48884202 | ||
| MED23 mutation links intellectual disability to dysregulation of immediate early gene expression | Q48932486 | ||
| Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? | Q51924202 | ||
| 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 | Q55670527 | ||
| An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p | Q82917014 | ||
| P433 | issue | 10 | |
| P921 | main subject | disability | Q12131 |
| congenital disorder | Q727096 | ||
| P304 | page(s) | 1100-1104 | |
| P577 | publication date | 2013-02-13 | |
| P1433 | published in | European Journal of Human Genetics | Q2155433 |
| P1476 | title | Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability | |
| P478 | volume | 21 |
| Q50651597 | Array-CGH in children with mild intellectual disability: a population-based study. |
| Q36109025 | Cardiomyocyte-Specific Ablation of Med1 Subunit of the Mediator Complex Causes Lethal Dilated Cardiomyopathy in Mice. |
| Q50091027 | Clinical phenotype and genetic analysis of MED13L syndrome |
| Q33761003 | Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes |
| Q26851315 | D-transposition of the great arteries: the current era of the arterial switch operation |
| Q92578496 | De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder |
| Q37408616 | De novo genic mutations among a Chinese autism spectrum disorder cohort. |
| Q54979492 | De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. |
| Q21144861 | De novo mutations in moderate or severe intellectual disability |
| Q57642074 | Diagnostic value of partial exome sequencing in developmental disorders |
| Q34431288 | Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing |
| Q34705170 | Further confirmation of the MED13L haploinsufficiency syndrome |
| Q63493302 | Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa |
| Q35595321 | Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders |
| Q52338839 | Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator. |
| Q52692296 | MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. |
| Q52429453 | MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. |
| Q50420591 | MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype |
| Q34348002 | Mediator complex dependent regulation of cardiac development and disease |
| Q26800203 | Mediator kinase module and human tumorigenesis |
| Q61448703 | Molecular and Functions of the CDK8 and CDK19 Kinase Modules |
| Q89539083 | Mutations in Mediator Complex Genes CDK8, MED12, MED13, and MEDL13 Mediate Overlapping Developmental Syndromes |
| Q36184548 | Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. |
| Q36116727 | Redefining the MED13L syndrome |
| Q37475205 | Regulation of metabolism by the Mediator complex |
| Q97531025 | Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability |
| Q34238113 | The clinical significance of small copy number variants in neurodevelopmental disorders |
| Q97544686 | Trait-associated noncoding variant regions affect TBX3 regulation and cardiac conduction |
| Q92472990 | Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect |
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