(Q50303733)

2 March 2018

title

Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH. (English)

1 reference

2 March 2018

main subject

autism spectrum disorder

0 references

1 reference

Jillian Nicholl

1

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2 March 2018

Wendy Waters

2

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2 March 2018

Shanna Suwalski

3

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2 March 2018

Sue Brown

4

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2 March 2018

Yvonne Hull

5

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2 March 2018

Michael G Harbord

6

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2 March 2018

John Entwistle

7

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2 March 2018

Suzanna Thompson

8

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2 March 2018

Damian Clark

9

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2 March 2018

Claire Pridmore

10

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2 March 2018

Eric Haan

11

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2 March 2018

Christopher Barnett

12

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2 March 2018

Lesley McGregor

13

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2 March 2018

Jan Liebelt

14

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2 March 2018

Elizabeth M Thompson

15

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2 March 2018

Kathryn Friend

16

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2 March 2018

Sharon M Bain

17

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2 March 2018

Sui Yu

18

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2 March 2018

John C Mulley

19

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2 March 2018

publication date

26 November 2012

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2 March 2018

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

published in

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2 March 2018

volume

162B

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2 March 2018

issue

1

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2 March 2018

page(s)

24-35

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2 March 2018

A population-based study on epilepsy in mentally retarded children

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms.

21 January 2018

1 reference

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Exome sequencing as a tool for Mendelian disease gene discovery

21 January 2018

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Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

21 January 2018

1 reference

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An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

21 January 2018

1 reference

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A copy number variation morbidity map of developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.B.32114

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

21 January 2018

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

21 January 2018

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

21 January 2018

1 reference

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Mechanisms of change in gene copy number

21 January 2018

1 reference

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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.32114

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

21 January 2018

1 reference

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Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

21 January 2018

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Population analysis of large copy number variants and hotspots of human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

21 January 2018

1 reference

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A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Genetically complex epilepsies, copy number variants and syndrome constellations

21 January 2018

1 reference

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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%2FAJMG.B.32114

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.32114

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.32114

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.32114

Epilepsy and the new cytogenetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

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.32114

Genetic contribution to common epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

Abundant pleiotropy in human complex diseases and traits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

Association between microdeletion and microduplication at 16p11.2 and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32114

21 January 2018

Identifiers

DOI

10.1002/AJMG.B.32114

1 reference

2 March 2018

release_6tjubrb2rvfwpfw43svu7qos4i

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6tjubrb2rvfwpfw43svu7qos4i

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

23184456

1 reference

2 March 2018