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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2010-10-8
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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.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1530-0366
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pubmed:author |
pubmed-author:Bachmann-GagescuRuxandraR,
pubmed-author:BaderPatricia IPI,
pubmed-author:BallifBlake CBC,
pubmed-author:CowanCharlesC,
pubmed-author:EichlerEvan EEE,
pubmed-author:GlewGwen MGM,
pubmed-author:HamatiAlineA,
pubmed-author:HelbigIngoI,
pubmed-author:HingAnne VAV,
pubmed-author:MeffordHeather CHC,
pubmed-author:MuhleHiltrudH,
pubmed-author:ReitnauerPamela JPJ,
pubmed-author:RosenfeldJillJ,
pubmed-author:SmithRosemarieR,
pubmed-author:StocktonDavid WDW,
pubmed-author:TsuchiyaKaren DKD,
pubmed-author:WallaceStephanieS
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pubmed:issnType |
Electronic
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pubmed:volume |
12
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
641-7
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:20808231-Abnormalities, Multiple,
pubmed-meshheading:20808231-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:20808231-Body Mass Index,
pubmed-meshheading:20808231-Child, Preschool,
pubmed-meshheading:20808231-Chromosomes, Human, Pair 16,
pubmed-meshheading:20808231-Comparative Genomic Hybridization,
pubmed-meshheading:20808231-DNA Copy Number Variations,
pubmed-meshheading:20808231-Developmental Disabilities,
pubmed-meshheading:20808231-Gene Dosage,
pubmed-meshheading:20808231-Genome-Wide Association Study,
pubmed-meshheading:20808231-Humans,
pubmed-meshheading:20808231-Infant,
pubmed-meshheading:20808231-Infant, Newborn,
pubmed-meshheading:20808231-Intellectual Disability,
pubmed-meshheading:20808231-Nucleic Acid Hybridization,
pubmed-meshheading:20808231-Obesity,
pubmed-meshheading:20808231-Phenotype,
pubmed-meshheading:20808231-Segmental Duplications, Genomic,
pubmed-meshheading:20808231-Sequence Deletion
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pubmed:year |
2010
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pubmed:articleTitle |
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
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pubmed:affiliation |
Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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