scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1016870851 |
P356 | DOI | 10.1007/S00439-010-0848-X |
P932 | PMC publication ID | 2921488 |
P698 | PubMed publication ID | 20563892 |
P5875 | ResearchGate publication ID | 44688470 |
P50 | author | Adrianus Henricus Maria Geurts van Kessel | Q28321462 |
Hans van Bokhoven | Q28324459 | ||
Annette Schenck | Q41045353 | ||
Jamie M Kramer | Q54255520 | ||
Dorien Lugtenberg | Q114367420 | ||
Ad Geurts van Kessel | Q125134904 | ||
P2093 | author name string | Merel A W Oortveld | |
Frans P M Cremers | |||
Arijit Mukhopadhyay | |||
Jyoti Agrawal | |||
Erik Huys | |||
Eric F Schoenmakers | |||
Ellen A W Blokland | |||
C Erik van Nouhuys | |||
Gerard Merkx | |||
Dominique F Smeets | |||
P2860 | cites work | The Ciliopathies: An Emerging Class of Human Genetic Disorders | Q22337032 |
The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases | Q24298299 | ||
The human CDK8 subcomplex is a histone kinase that requires Med12 for activity and can function independently of mediator | Q24320150 | ||
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation | Q24530632 | ||
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 | ||
Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes | Q24534395 | ||
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome | Q24669780 | ||
Rett syndrome: clinical review and genetic update | Q24674633 | ||
Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method | Q25938999 | ||
The neighbor-joining method: a new method for reconstructing phylogenetic trees | Q25939010 | ||
A new mathematical model for relative quantification in real-time RT-PCR | Q27860781 | ||
Targeted gene expression as a means of altering cell fates and generating dominant phenotypes | Q27861039 | ||
Dendritic anomalies in disorders associated with mental retardation | Q28139722 | ||
Mapping and characterization of the mouse and human SS18 genes, two human SS18-like genes and a mouse Ss18 pseudogene | Q28204577 | ||
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse | Q28593460 | ||
Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9 | Q28594945 | ||
The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia | Q29615741 | ||
Systematic identification of genes that regulate neuronal wiring in the Drosophila visual system | Q33339394 | ||
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome | Q34576763 | ||
The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. | Q34624060 | ||
The cyclin-dependent kinase 8 module sterically blocks Mediator interactions with RNA polymerase II. | Q35127464 | ||
Distinct roles for Mediator Cdk8 module subunits in Drosophila development. | Q35752882 | ||
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation | Q36975019 | ||
The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches | Q37090067 | ||
Drosophila Cdk8, a kinase partner of cyclin C that interacts with the large subunit of RNA polymerase II. | Q37380380 | ||
Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts | Q40268522 | ||
Congenital microcephaly, juvenile retinal dystrophy and normal mentation in a mildly dysmorphic child | Q41920292 | ||
Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome | Q41935550 | ||
The human CDK8 subcomplex is a molecular switch that controls Mediator coactivator function | Q42082510 | ||
An efficient method for routine Epstein-Barr virus immortalization of human B lymphocytes | Q45785987 | ||
Tiling of the Drosophila epidermis by multidendritic sensory neurons. | Q45960946 | ||
Control of dendritic development by theDrosophila fragile X-relatedgene involves the small GTPase Rac1 | Q46237451 | ||
Different levels of the homeodomain protein cut regulate distinct dendrite branching patterns of Drosophila multidendritic neurons | Q46682237 | ||
Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families. | Q50567749 | ||
Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina. | Q52286416 | ||
Congenital retinal fold as a sign of dominant exudative vitreoretinopathy. | Q52295842 | ||
Autosomal recessive vitreoretinopathy and encephaloceles | Q70622993 | ||
Falciform retinal fold as sign of familial exudative vitreoretinopathy | Q71744825 | ||
Two cases of ablatio falciformis congenita and other 2 cases of ocular congenital anomalies, which appeared in a pedigree with consangineous marriages | Q79006056 | ||
P433 | issue | 3 | |
P921 | main subject | congenital disorder | Q727096 |
patient | Q181600 | ||
microcephaly | Q431643 | ||
P304 | page(s) | 281-291 | |
P577 | publication date | 2010-06-22 | |
P1433 | published in | Human Genetics | Q5937167 |
P1476 | title | CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation | |
P478 | volume | 128 |