Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature (Q38725444)

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scientific article published on 7 February 2016

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English	Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature	scientific article published on 7 February 2016

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scholarly article

1 reference

Europe PubMed Central

5 September 2017

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Europe PubMed Central

Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature (English)

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Europe PubMed Central

5 September 2017

Isabel Anne Hemming

1

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12 June 2020

Alistair Forrest

2

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12 June 2020

Julian Ik-Tsen Heng

7

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12 June 2020

author name string

Peter Shipman

3

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12 June 2020

Karen J Woodward

4

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12 June 2020

Peter Walsh

5

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12 June 2020

David G Ravine

6

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publication date

7 February 2016

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5 September 2017

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

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12 June 2020

171B

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12 June 2020

458-467

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12 June 2020

3

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A genome-wide scan for common alleles affecting risk for autism

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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.

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

1 reference

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

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Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.

1 reference

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

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The zinc finger transcription factor RP58 negatively regulates Rnd2 for the control of neuronal migration during cerebral cortical development.

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Characterising and predicting haploinsufficiency in the human genome.

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SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex

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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

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Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial 1q duplication and possible 18p deletion: A study of four individuals in two families

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Alpha-actinin2 cytoskeletal protein is required for the functional membrane localization of a Ca2+-activated K+ channel (SK2 channel)

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

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RP58 regulates the multipolar-bipolar transition of newborn neurons in the developing cerebral cortex

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The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex

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

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Somatic activation of AKT3 causes hemispheric developmental brain malformations

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Gene regulation during development in the light of topologically associating domains

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

1 reference

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21 January 2018

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

1 reference

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The microtubule-binding protein Cep170 promotes the targeting of the kinesin-13 depolymerase Kif2b to the mitotic spindle.

1 reference

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Identifiers

10.1002/AJMG.B.32427

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26853090%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26853090%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

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