Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies (Q33569995)

28 July 2017

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

1 reference

28 July 2017

29

Helle Hjalgrim

0 references

Michael Steffens

Michael Steffens

14

0 references

Karl Martin Klein

Karl M Klein

16

0 references

Fritz Zimprich

Fritz Zimprich

24

0 references

Dick Lindhout

Dick Lindhout

41

0 references

Peter Nürnberg

36

Peter Nürnberg

1 reference

Dorothée Kasteleijn-Nolst Trenité

28 July 2017

20

Dorothée Kasteleijn-Nolst Trenité

1 reference

28 July 2017

Rikke S Møller

28

0 references

Heinz Erich Wichmann

33

Heinz-Erich Wichmann

1 reference

28 July 2017

18

Felix Rosenow

1 reference

28 July 2017

17

Hajo M Hamer

1 reference

28 July 2017

35

Stefan Schreiber

1 reference

28 July 2017

4

Heather C Mefford

1 reference

28 July 2017

42

Evan E Eichler

1 reference

28 July 2017

34

Andre Franke

1 reference

28 July 2017

1

Carolien G F de Kovel

1 reference

28 July 2017

30

Peter De Jonghe

1 reference

28 July 2017

8

Hiltrud Muhle

1 reference

28 July 2017

38

Holger Lerche

1 reference

28 July 2017

19

Eva H Brilstra

1 reference

28 July 2017

40

Bobby P C Koeleman

1 reference

28 July 2017

9

Sarah von Spiczak

1 reference

28 July 2017

37

Christian E Elger

1 reference

28 July 2017

2

Holger Trucks

1 reference

28 July 2017

5

Carl Baker

1 reference

28 July 2017

6

Costin Leu

1 reference

28 July 2017

Ailing A Kleefuss-Lie

12

Ailing A Kleefuss-Lie

1 reference

28 July 2017

15

Verena Gaus

1 reference

28 July 2017

Mariëlle E M Swinkels

21

Marielle E M Swinkels

1 reference

28 July 2017

23

Iris Unterberger

1 reference

28 July 2017

25

Lydia Urak

1 reference

28 July 2017

26

Martha Feucht

1 reference

28 July 2017

32

Ina-Maria Rückert

1 reference

28 July 2017

7

Christian Kluck

1 reference

28 July 2017

11

Tanja Obermeier

1 reference

28 July 2017

Ingo Helbig

3

1 reference

28 July 2017

Philipp Ostertag

10

1 reference

28 July 2017

Kerstin Hallmann

13

1 reference

28 July 2017

Yvonne G Weber

22

1 reference

28 July 2017

Karoline Fuchs

27

1 reference

28 July 2017

Arvid Suls

31

1 reference

28 July 2017

Ulrich Stephani

39

1 reference

28 July 2017

Thomas Sander

43

1 reference

28 July 2017

language of work or name

English

0 references

publication date

20 October 2009

1 reference

28 July 2017

1 reference

28 July 2017

133

1 reference

28 July 2017

Pt 1

1 reference

28 July 2017

23-32

1 reference

Mechanisms of change in gene copy number

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Duplication hotspots, rare genomic disorders, and common disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

The DISC1 pathway modulates expression of neurodevelopmental, synaptogenic and sensory perception genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

A genome-wide investigation of SNPs and CNVs in schizophrenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

A 15q13.3 microdeletion segregating with autism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Mechanisms for human genomic rearrangements

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Mechanisms of human inherited epilepsies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Copy-number variations associated with neuropsychiatric conditions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Emerging themes and new challenges in defining the role of structural variation in human disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Large recurrent microdeletions associated with schizophrenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Rare chromosomal deletions and duplications increase risk of schizophrenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

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 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Novel microdeletion syndromes detected by chromosome microarrays

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Navigating the channels and beyond: unravelling the genetics of the epilepsies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Structural variation of chromosomes in autism spectrum disorder

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Recurrent 16p11.2 microdeletions in autism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Strong association of de novo copy number mutations with autism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Principal components analysis corrects for stratification in genome-wide association studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Cellular and network mechanisms of spike-wave seizures

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Epidemiology of idiopathic generalized epilepsies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

KORA-gen--resource for population genetics, controls and a broad spectrum of disease phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801323

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

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP262

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWP262

1 reference

28 July 2017

1 reference

28 July 2017

1 reference