pubmed-article:20808231 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:20808231 | lifeskim:mentions | umls-concept:C0028754 | lld:lifeskim |
pubmed-article:20808231 | lifeskim:mentions | umls-concept:C0424605 | lld:lifeskim |
pubmed-article:20808231 | lifeskim:mentions | umls-concept:C1520678 | lld:lifeskim |
pubmed-article:20808231 | lifeskim:mentions | umls-concept:C0034897 | lld:lifeskim |
pubmed-article:20808231 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
pubmed-article:20808231 | lifeskim:mentions | umls-concept:C1442161 | lld:lifeskim |
pubmed-article:20808231 | lifeskim:mentions | umls-concept:C1822703 | lld:lifeskim |
pubmed-article:20808231 | lifeskim:mentions | umls-concept:C1552866 | lld:lifeskim |
pubmed-article:20808231 | lifeskim:mentions | umls-concept:C2700399 | lld:lifeskim |
pubmed-article:20808231 | pubmed:issue | 10 | lld:pubmed |
pubmed-article:20808231 | pubmed:dateCreated | 2010-10-8 | lld:pubmed |
pubmed-article:20808231 | pubmed:abstractText | The short arm of chromosome 16 is rich in segmental duplications, predisposing this region of the genome to a number of recurrent rearrangements. Genomic imbalances of an approximately 600-kb region in 16p11.2 (29.5-30.1 Mb) have been associated with autism, intellectual disability, congenital anomalies, and schizophrenia. However, a separate, distal 200-kb region in 16p11.2 (28.7-28.9 Mb) that includes the SH2B1 gene has been recently associated with isolated obesity. The purpose of this study was to better define the phenotype of this recurrent SH2B1-containing microdeletion in a cohort of phenotypically abnormal patients not selected for obesity. | lld:pubmed |
pubmed-article:20808231 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:20808231 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:20808231 | pubmed:language | eng | lld:pubmed |
pubmed-article:20808231 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:20808231 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:20808231 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:20808231 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:20808231 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:20808231 | pubmed:month | Oct | lld:pubmed |
pubmed-article:20808231 | pubmed:issn | 1530-0366 | lld:pubmed |
pubmed-article:20808231 | pubmed:author | pubmed-author:EichlerEvan... | lld:pubmed |
pubmed-article:20808231 | pubmed:author | pubmed-author:StocktonDavid... | lld:pubmed |
pubmed-article:20808231 | pubmed:author | pubmed-author:MeffordHeathe... | lld:pubmed |
pubmed-article:20808231 | pubmed:author | pubmed-author:TsuchiyaKaren... | lld:pubmed |
pubmed-article:20808231 | pubmed:author | pubmed-author:CowanCharlesC | lld:pubmed |
pubmed-article:20808231 | pubmed:author | pubmed-author:BaderPatricia... | lld:pubmed |
pubmed-article:20808231 | pubmed:author | pubmed-author:BallifBlake... | lld:pubmed |
pubmed-article:20808231 | pubmed:author | pubmed-author:HingAnne VAV | lld:pubmed |
pubmed-article:20808231 | pubmed:author | pubmed-author:ReitnauerPame... | lld:pubmed |
pubmed-article:20808231 | pubmed:author | pubmed-author:SmithRosemari... | lld:pubmed |
pubmed-article:20808231 | pubmed:author | pubmed-author:GlewGwen MGM | lld:pubmed |
pubmed-article:20808231 | pubmed:author | pubmed-author:MuhleHiltrudH | lld:pubmed |
pubmed-article:20808231 | pubmed:author | pubmed-author:HelbigIngoI | lld:pubmed |
pubmed-article:20808231 | pubmed:author | pubmed-author:HamatiAlineA | lld:pubmed |
pubmed-article:20808231 | pubmed:author | pubmed-author:RosenfeldJill... | lld:pubmed |
pubmed-article:20808231 | pubmed:author | pubmed-author:Bachmann-Gage... | lld:pubmed |
pubmed-article:20808231 | pubmed:author | pubmed-author:WallaceStepha... | lld:pubmed |
pubmed-article:20808231 | pubmed:issnType | Electronic | lld:pubmed |
pubmed-article:20808231 | pubmed:volume | 12 | lld:pubmed |
pubmed-article:20808231 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:20808231 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:20808231 | pubmed:pagination | 641-7 | lld:pubmed |
pubmed-article:20808231 | pubmed:dateRevised | 2011-11-17 | lld:pubmed |
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pubmed-article:20808231 | pubmed:year | 2010 | lld:pubmed |
pubmed-article:20808231 | pubmed:articleTitle | Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. | lld:pubmed |
pubmed-article:20808231 | pubmed:affiliation | Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA. | lld:pubmed |
pubmed-article:20808231 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:20808231 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
pubmed-article:20808231 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
entrez-gene:25970 | entrezgene:pubmed | pubmed-article:20808231 | lld:entrezgene |
http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:20808231 | lld:entrezgene |