(Q38500985)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882292%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882292%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882292%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Niels Tommerup

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882292%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Rikke S Møller

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882292%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author name string

Roxana Kariminejad

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882292%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Allan Lind-Thomsen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882292%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Fikret Erdogan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882292%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Hans H Ropers

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882292%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Reinhard Ullmann

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882292%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

publication date

23 September 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882292%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882292%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

volume

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882292%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882292%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

page(s)

1427-1435

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882292%20AND%20SRC:MED&resulttype=core&format=json

The IntAct molecular interaction database in 2010

12 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

BIND: the Biomolecular Interaction Network Database

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Increased LIS1 expression affects human and mouse brain development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Elucidating the relationship between DISC1, NDEL1 and NDE1 and the risk for schizophrenia: evidence of epistasis and competitive binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

A tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Searching the protein interaction space through the MINT database.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Diagnostic genome profiling in mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Mowat-Wilson syndrome: an underdiagnosed syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Biomolecular interaction network database

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Replicated genetic evidence supports a role for HOMER2 in schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

DAVID Bioinformatics Resources: expanded annotation database and novel algorithms to better extract biology from large gene lists

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Detection of large-scale variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Copy number variations of chromosome 16p13.1 region associated with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Reactome: a knowledgebase of biological pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

A schizophrenia-associated mutation of DISC1 perturbs cerebral cortex development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

From genomics to chemical genomics: new developments in KEGG

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Regulation of c-Src activity in glutamate-induced neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

A flexible rank-based framework for detecting copy number aberrations from array data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

A human phenome-interactome network of protein complexes implicated in genetic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

WDR62 is associated with the spindle pole and is mutated in human microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Evidence of statistical epistasis between DISC1, CIT and NDEL1 impacting risk for schizophrenia: biological validation with functional neuroimaging.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Mints, Munc18-interacting proteins in synaptic vesicle exocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Genetic association of the very low density lipoprotein (VLDL) receptor gene with sporadic Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

G protein-coupled receptor-dependent development of human frontal cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Cytoscape 2.8: new features for data integration and network visualization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

A unified approach to false discovery rate estimation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Reactome: a knowledge base of biologic pathways and processes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Homer regulates the association of group 1 metabotropic glutamate receptors with multivalent complexes of homer-related, synaptic proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Defect in synaptic vesicle precursor transport and neuronal cell death in KIF1A motor protein-deficient mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

MINT: a Molecular INTeraction database

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

inferred from DOI database lookup

7 January 2021

based on heuristic

Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

inferred from DOI database lookup

7 January 2021

based on heuristic

Detection of microchromosomal aberrations in refractory epilepsy: a pilot study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21585

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.21585

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882292%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference