(Q50305970)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

neurodevelopmental disorder

8 February 2020

main subject

1 reference

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Elżbieta Szczepanik

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Alicja Goszczańska

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Iwona Terczyńska

18

1 reference

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8 February 2020

Hanna Mierzewska

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

5

Tomasz Gambin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

21

Anna Gambin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Dorota Hoffman-Zacharska

10

object named as

Dorota Hoffman-Zacharska

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

23

Tadeusz Mazurczak

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

9

Monika Gos

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

25

Ewa Bocian

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

24

Ewa Obersztyn

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

26

Paweł Stankiewicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Magdalena Bartnik-Głaska

1

object named as

Magdalena Bartnik

1 reference

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8 February 2020

author name string

Katarzyna Derwińska

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Barbara Wiśniowiecka-Kowalnik

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Maciej Sykulski

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Kamila Ziemkiewicz

7

1 reference

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8 February 2020

Marta Kędzior

8

1 reference

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8 February 2020

Tomasz Mazurczak

11

1 reference

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8 February 2020

Anetta Jeziorek

12

1 reference

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8 February 2020

Dorota Antczak-Marach

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Mariola Rudzka-Dybała

14

1 reference

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8 February 2020

Hanna Mazurkiewicz

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Zofia Zalewska-Miszkurka

17

1 reference

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8 February 2020

Małgorzata Sobierajewicz

19

1 reference

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8 February 2020

publication date

23 July 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

8 February 2020

published in

1 reference

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8 February 2020

volume

159B

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

page(s)

760-771

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

Questionable pathogenicity of FOXG1 duplication.

8 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Spectrum of epilepsy in terminal 1p36 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Detection of clinically relevant exonic copy-number changes by array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Gene expression, genetics, and genomics in epilepsy: some answers, more questions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

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%2FAJMG.B.32081

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Monosomy 1p36 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Impact of our understanding of the genetic aetiology of epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Seizures and EEG findings in an adult patient with DiGeorge syndrome: a case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

New ideas in epilepsy genetics: novel epilepsy genes, copy number alterations, and gene regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Descriptive epidemiology of epilepsy: contributions of population-based studies from Rochester, Minnesota

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

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%2FAJMG.B.32081

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Characterising and predicting haploinsufficiency in the human genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

WWOX hypomorphic mice display a higher incidence of B-cell lymphomas and develop testicular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

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%2FAJMG.B.32081

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Rare copy number variants are an important cause of epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

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%2FAJMG.B.32081

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Epilepsy and the new cytogenetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Phenotypic manifestations of copy number variation in chromosome 16p13.11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Genetic testing in the epilepsies--report of the ILAE Genetics Commission

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Genetic evaluation and counseling for epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

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%2FAJMG.B.32081

Genetic causes of epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

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%2FAJMG.B.32081

The array CGH and its clinical applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Genetic contribution to common epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

A spontaneous mutation of the Wwox gene and audiogenic seizures in rats with lethal dwarfism and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Sacred disease secrets revealed: the genetics of human epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

West syndrome associated with mosaic duplication ofFOXG1in a patient with maternal uniparental disomy of chromosome 14

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32081

21 January 2018

Identifiers

DOI

10.1002/AJMG.B.32081

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json

release_ihb3xiygzbd4vi5h6mluewzxyi

8 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ihb3xiygzbd4vi5h6mluewzxyi

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22825934%20AND%20SRC:MED&resulttype=core&format=json