Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness (Q36193455)

12 August 2017

Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness (English)

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35

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Birte Y Glenthøj

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Sven Cichon

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Sven Cichon

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Marcella Rietschel

15

Marcella Rietschel

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Engilbert Sigurdsson

37

Engilbert Sigurdsson

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Thomas Werge

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Thomas Werge

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12 August 2017

Thomas Hansen

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Anthony R Isles

Anthony R Isles

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Hreinn Stefansson

Hreinn Stefansson

39

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Andrew McQuillin

Andrew McQuillin

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Lambertus Kiemeney

Lambertus A Kiemeney

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Markus M Nöthen

Markus M Nöthen

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Srdjan Djurovic

Srdjan Djurovic

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Kári Stefánsson

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Kari Stefansson

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Hans-Jürgen Möller

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12 August 2017

3

Ina Giegling

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12 August 2017

40

Dan Rujescu

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12 August 2017

Leena Peltonen-Palotie

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Leena Peltonen

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12 August 2017

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David St Clair

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Chiara Bonetto

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David A Collier

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Omar Gustafsson

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12 August 2017

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Nick Craddock

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12 August 2017

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Pierandrea Muglia

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12 August 2017

1

Andrés Ingason

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Roel A Ophoff

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Olli P H Pietiläinen

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12 August 2017

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Sarah Tosato

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12 August 2017

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Evald Saemundsen

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12 August 2017

Klaus D Jakobsen

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12 August 2017

Kari T Kristinsson

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12 August 2017

Louise le Roux

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12 August 2017

Henrik B Rasmussen

24

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12 August 2017

Barbara Franke

27

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12 August 2017

Stefán J Hreidarsson

31

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12 August 2017

GROUP Investigators

32

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12 August 2017

Hugh Gurling

34

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12 August 2017

Michael J Owen

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12 August 2017

Hannes Petursson

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12 August 2017

language of work or name

English

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publication date

15 February 2011

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American Journal of Psychiatry

12 August 2017

10

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published in

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12 August 2017

168

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408-417

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4

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The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Microduplications of 16p11.2 are associated with schizophrenia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

A genome-wide investigation of SNPs and CNVs in schizophrenia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Disruption of the neurexin 1 gene is associated with schizophrenia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Gender influences monoallelic expression of ATP10A in human brain

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Large recurrent microdeletions associated with schizophrenia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Rare chromosomal deletions and duplications increase risk of schizophrenia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Strong association of de novo copy number mutations with autism

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Lifetime prevalence of psychotic and bipolar I disorders in a general population

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

1 October 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Diagnostic genome profiling in mental retardation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Prader-Willi syndrome: advances in genetics, pathophysiology and treatment

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Prader-Willi and Angelman syndromes: sister imprinted disorders

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

The phenomenology and diagnosis of psychiatric illness in people with Prader-Willi syndrome.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Prader-Willi syndrome: the psychopathological phenotype in uniparental disomy

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Genetic and clinical characterization of patients with an interstitial duplication 15q11‐q13, emphasizing behavioral phenotype and response to treatment

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Prader-Willi syndrome and cycloid psychoses.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

The Danish Psychiatric Central Register.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428917

Estimate of prevalence of proximal 15q duplication syndrome

22 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21324950

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Communication, cognition, and social interaction in the Angelman syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21324950

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1176/APPI.AJP.2010.09111660

1 reference

12 August 2017

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12 August 2017

1 reference