(Q51903311)

English

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

scientific article published on 23 May 2007

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scholarly article

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. (English)

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

Angelman syndrome

1 reference

based on heuristic

inferred from title

4

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

5

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

author name string

Trilochan Sahoo

1

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

Carlos A Bacino

2

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

Jennifer R German

3

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

Virginia Kimonis

6

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

Irinia Anselm

7

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

Susan Waisbren

8

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

Arthur L Beaudet

9

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

Sarika U Peters

10

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

publication date

23 May 2007

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

European Journal of Human Genetics

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

15

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Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

943-949

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

9

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201859

0 references

Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

21 January 2018

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

Cognitive and adaptive behavior profiles of children with Angelman syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

‘Puppet’ Children A Report on Three Cases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

Structure of chromosomal duplicons and their role in mediating human genomic disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

A role for Mints in transmitter release: Mint 1 knockout mice exhibit impaired GABAergic synaptic transmission

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

Mapping of the human and murine X11-like genes (APBA2 and apba2), the murine Fe65 gene (Apbb1), and the human Fe65-like gene (APBB2): genes encoding phosphotyrosine-binding domain proteins that interact with the Alzheimer's disease amyloid [...]

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage of M5 muscarinic and alpha7-nicotinic receptor genes on 15q13 to schizophrenia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular analysis of nicotinic receptor expression in autism.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201859

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201859

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

1 reference

Europe PubMed Central

17 April 2018

http://europepmc.org/abstract/MED/17522620

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