PMID 20382278 2010 Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
PMID 23494996 2013 Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
PMID 17668379 2007 Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
PMID 19409883 2009 The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex.
PMID 20059953 2009 A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58.
PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
PMID 22095278 2012 RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion.
PMID 24193349 2014 A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
PMID 9756912 1998 RP58 associates with condensed chromatin and mediates a sequence-specific transcriptional repression.
PMID 17447250 2007 Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain.
PMID 26740508 2016 Identification of novel genetic causes of Rett syndrome-like phenotypes.
PMID 11854316 2002 Transcription factor haploinsufficiency: when half a loaf is not enough.
PMID 14681759 2003 Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).
PMID 22234186 2012 RP58 controls neuron and astrocyte differentiation by downregulating the expression of Id1-4 genes in the developing cortex.
PMID 9568537 1997 C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain.
PMID 27598823 2017 Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
PMID 10567577 1999 The zinc finger-associated SCAN box is a conserved oligomerization domain.
PMID 11350943 2001 Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription.
PMID 20672375 2010 Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
PMID 21800092 2012 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.
PMID 21934713 2012 Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
PMID 22513377 2012 Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development.
PMID 22678713 2012 Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
PMID 11350943 2001 Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription.
PMID 19409883 2009 The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex.
PMID 11854316 2002 Transcription factor haploinsufficiency: when half a loaf is not enough.
PMID 14681759 2003 Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).
PMID 17447250 2007 Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain.
PMID 17668379 2007 Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
PMID 10567577 1999 The zinc finger-associated SCAN box is a conserved oligomerization domain.
PMID 22678713 2012 Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
PMID 22513377 2012 Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development.
PMID 20059953 2009 A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58.
PMID 27598823 2017 Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
PMID 23494996 2013 Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
PMID 26740508 2016 Identification of novel genetic causes of Rett syndrome-like phenotypes.
PMID 22234186 2012 RP58 controls neuron and astrocyte differentiation by downregulating the expression of Id1-4 genes in the developing cortex.
PMID 9756912 1998 RP58 associates with condensed chromatin and mediates a sequence-specific transcriptional repression.
PMID 24193349 2014 A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
PMID 9568537 1997 C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain.
PMID 24614070 2014 Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
PMID 20672375 2010 Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
PMID 22095278 2012 RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion.
PMID 21800092 2012 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.
PMID 20382278 2010 Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
PMID 21934713 2012 Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
rs1553270522 in
ZBTB18 gene and
Muscle hypotonia
PMID 25131622 2014 Clinical whole exome sequencing in child neurology practice.
PMID 27598823 2017 Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
PMID 26740508 2016 Identification of novel genetic causes of Rett syndrome-like phenotypes.
PMID 9756912 1998 RP58 associates with condensed chromatin and mediates a sequence-specific transcriptional repression.
PMID 22095278 2012 RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion.
PMID 23494996 2013 Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
PMID 19409883 2009 The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex.
PMID 9568537 1997 C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain.
PMID 20672375 2010 Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
PMID 11179890 2001 Zinc finger proteins: new insights into structural and functional diversity.
PMID 17668379 2007 Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
PMID 22513377 2012 Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development.
PMID 20382278 2010 Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
PMID 24193349 2014 A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
PMID 24614070 2014 Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
PMID 20059953 2009 A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58.
PMID 17447250 2007 Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain.
PMID 22234186 2012 RP58 controls neuron and astrocyte differentiation by downregulating the expression of Id1-4 genes in the developing cortex.
PMID 22678713 2012 Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
PMID 21934713 2012 Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
PMID 11350943 2001 Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription.
PMID 14681759 2003 Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).
PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
PMID 10567577 1999 The zinc finger-associated SCAN box is a conserved oligomerization domain.
PMID 21800092 2012 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.
PMID 11854316 2002 Transcription factor haploinsufficiency: when half a loaf is not enough.