Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH. (Q50303733)

2 March 2018

title

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

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2 March 2018

main subject

autism spectrum disorder

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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

page(s)

24-35

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2 March 2018

issue

1

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2 March 2018

A population-based study on epilepsy in mentally retarded children

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

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

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Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

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21 January 2018

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

21 January 2018

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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.

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

21 January 2018

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21 January 2018

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Rare copy number variants are an important cause of epileptic encephalopathies

21 January 2018

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

21 January 2018

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Epilepsy and the new cytogenetics

21 January 2018

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

21 January 2018

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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Abundant pleiotropy in human complex diseases and traits.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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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