(Q48224906)

9 February 2018

title

15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. (English)

1 reference

9 February 2018

6

Stephen W Scherer

1 reference

9 February 2018

Tracy Stockley

7

0 references

author name string

Abdul Noor

1

1 reference

9 February 2018

Lucie Dupuis

2

1 reference

9 February 2018

Kirti Mittal

3

1 reference

9 February 2018

Anath C Lionel

4

1 reference

9 February 2018

Christian R Marshall

5

1 reference

9 February 2018

John B Vincent

8

1 reference

9 February 2018

Roberto Mendoza-Londono

9

1 reference

9 February 2018

Dimitri J Stavropoulos

10

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9 February 2018

publication date

1 July 2015

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9 February 2018

published in

Human Mutation

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9 February 2018

volume

36

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9 February 2018

issue

7

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9 February 2018

page(s)

689-693

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9 February 2018

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22800

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.

21 January 2018

1 reference

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Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy.

21 January 2018

1 reference

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A survey of seizures and current treatments in 15q duplication syndrome.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22800

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22800

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22800

Imprinted genes and mother-offspring interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22800

Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22800

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22800

Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22800

The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22800

Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice.

21 January 2018

1 reference

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

21 January 2018

1 reference

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High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22800

The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22800

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

21 January 2018

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In search of the psychosis gene in people with Prader-Willi syndrome.

21 January 2018

1 reference

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NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22800

Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22800

Overexpression of chromosome 15q11-q13 gene products: a risk factor for schizophrenia and associated psychoses?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22800

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22800

1 reference

9 February 2018

PubMed ID

25884337

1 reference

9 February 2018