|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
|
27598823 |
2017 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identification of novel genetic causes of Rett syndrome-like phenotypes.
|
26740508 |
2016 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
|
24614070 |
2014 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
|
24193349 |
2014 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Clinical whole exome sequencing in child neurology practice.
|
25131622 |
2014 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
|
23494996 |
2013 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
|
22678713 |
2012 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
|
21800092 |
2012 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
|
21934713 |
2012 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development.
|
22513377 |
2012 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
RP58 controls neuron and astrocyte differentiation by downregulating the expression of Id1-4 genes in the developing cortex.
|
22234186 |
2012 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion.
|
22095278 |
2012 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
|
23020937 |
2012 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
|
20382278 |
2010 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
|
20672375 |
2010 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58.
|
20059953 |
2009 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex.
|
19409883 |
2009 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
|
17668379 |
2007 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain.
|
17447250 |
2007 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).
|
14681759 |
2003 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Transcription factor haploinsufficiency: when half a loaf is not enough.
|
11854316 |
2002 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Zinc finger proteins: new insights into structural and functional diversity.
|
11179890 |
2001 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription.
|
11350943 |
2001 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The zinc finger-associated SCAN box is a conserved oligomerization domain.
|
10567577 |
1999 |
|
rs1553270522
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
RP58 associates with condensed chromatin and mediates a sequence-specific transcriptional repression.
|
9756912 |
1998 |