A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome (Q33620878)

28 July 2017

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome (English)

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28 July 2017

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5

Kym M Boycott

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28 July 2017

3

Alexander Hoischen

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28 July 2017

10

Han G Brunner

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28 July 2017

8

Nine V A M Knoers

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28 July 2017

7

Lies H Hoefsloot

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28 July 2017

6

Jeroen Schoots

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28 July 2017

1

Sonja A de Munnik

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28 July 2017

9

Ernie M H F Bongers

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28 July 2017

Sixto García-Miñaúr

2

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PubMed ID

24193349

28 July 2017

Bregje W van Bon

series ordinal

4

1 reference

28 July 2017

6 November 2013

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European Journal of Human Genetics

28 July 2017

1 reference

28 July 2017

22

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28 July 2017

844-846

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28 July 2017

6

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https://scigraph.springernature.com/pub.10.1038/ejhg.2013.249

28 July 2017

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cites work

RP58 controls neuron and astrocyte differentiation by downregulating the expression of Id1-4 genes in the developing cortex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023223

RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023223

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023223

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.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023223

Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023223

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023223

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023223

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

21 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.249

Delineation of the cryptic 1qter deletion phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.249

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.249

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.249

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.249

Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.249

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.249

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.249

The 5'-flanking region of the RP58 coding sequence shows prominent promoter activity in multipolar cells in the subventricular zone during corticogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.249

Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients

21 January 2018

1 reference

12 December 2020

Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature

1 reference

12 December 2020

A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome

1 reference

12 December 2020

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2013.249

1 reference

28 July 2017

1 reference

28 July 2017

1 reference

PubMed ID

24193349