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

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About: NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

scientific article published on 01 March 2009

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в березні 2009 (uk) im März 2009 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en marzu de 2009 (ast) scientific article published on 01 March 2009 (en)
publication date	wds:Q57732412-9A599E8A-2A02-40E5-A821-FDDCF2C454DC
publication date	2009-03-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57732412-D31DDDED-2A56-4B25-B6A6-129AF84A647D
language of work or name	English
cites work	wds:Q57732412-D9B406EF-6273-4BEC-9CC2-F45FFE67A7B6
cites work	A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect.
author name string	wds:Q57732412-140EE877-DA93-41FF-A3D3-C17C9CA0868E wds:Q57732412-33800178-F541-4BC7-B89A-7A14CB2DDCB3 wds:Q57732412-5DF0DFF5-8CB4-43E0-8E26-3FDCE3D6E783 wds:Q57732412-BB91B284-B10D-454F-B4A3-6F4CFC4A415B wds:Q57732412-EF662BE7-466D-423A-AA55-82E13102A61E wds:Q57732412-F2FE053F-BD9F-486E-9F3C-BDC2EBC7ACB1
author name string	Elisabeth Gabau Irene Ferrer Cristina Camprubí Maria Dolors Coll Sergi Villatoro Monica Roselló
rdfs:label	NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions (en) NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions (nl)
skos:prefLabel	NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions (en) NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions (nl)
name	NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions (en) NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions (nl)
author	wds:Q57732412-2CA33132-D851-4B27-B15B-D66027EA7E6B wds:Q57732412-62B67D95-F87A-4F81-8C5C-015B2C91F67A wds:Q57732412-74E957DF-B67B-45AF-86AB-FE71F6915A2A wds:Q57732412-84C4FE24-1F40-4E97-9E90-D1A5CF98AB0A wds:Q57732412-BC9D3CA5-5CB3-4F4D-9194-172E162472DB
author	Francisco Martinez Sandra Monfort Carmen Orellana Silvestre Oltra Miriam Guitart
title	wds:Q57732412-7CD75F76-5E9C-4063-B553-89192EC0707F
title	Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions (en)
page(s)	wds:Q57732412-C70E3128-4EDB-4570-89E5-4A1056ACAAEC
page(s)	343-348
instance of	wds:Q57732412-2A22FA4B-43C4-40B0-8C3D-C83C8EB567AF
instance of	scholarly article
main subject	wds:Q57732412-9DC5B8A4-AC90-40FC-BA1B-02ACF8F52102
main subject	Angelman syndrome
PubMed ID	wds:Q57732412-3AD48900-13F5-404A-8CE3-539CCCD678E8
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/19213023
PubMed ID	19213023
published in	wds:Q57732412-67FF74F7-F4BE-415C-857F-ED264C039CCF
published in	American Journal of Medical Genetics
issue	wds:Q57732412-F7739F0D-26B8-4A39-8DD0-A5706994BC4B
volume	wds:Q57732412-B12E7B92-2F80-4215-849A-F92A8CD30F63
issue	3
volume	149A
DOI	wds:Q57732412-AF7C3BA6-C3B6-4E33-8AC9-6A89956C5067
DOI	http://dx.doi.org/10.1002/AJMG.A.32659
DOI	10.1002/AJMG.A.32659
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57732412
is cites work of	Mutation Update for UBE3A variants in Angelman syndrome 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Spontaneous seizures and altered gene expression in GABA signaling pathways in a mind bomb mutant zebrafish An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A. Angelman syndrome - insights into a rare neurogenetic disorder Molecular and Clinical Aspects of Angelman Syndrome. Evaluation of visual evoked potentials in patient with angelmans syndrome - case report.
is cites work of	wds:Q35958258-B4A9A0EE-143E-4846-97A9-9F8A3F059983 wds:Q38951249-FB8F85C6-FC91-4389-8998-88589E61F85A wds:Q24602558-B15FB739-98CB-46AA-A069-5B9541CE10A5 wds:Q38248435-9DEBD579-CE19-472D-AAE0-2CEC763BE843 wds:Q36006585-8E1100DD-B714-4D30-8FBF-E5B0A38C42C9 wds:Q30497107-41956C7C-8A87-4966-982A-42812AF8ED1E wds:Q42003258-EEEC805C-44EC-46C5-863D-5D2497F92189 wds:Q48224906-A9EC45C3-8D66-4CE7-8123-D4A43DCBBB04

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