pubmed-article:11811142 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:11811142 | lifeskim:mentions | umls-concept:C0004352 | lld:lifeskim |
pubmed-article:11811142 | lifeskim:mentions | umls-concept:C0596142 | lld:lifeskim |
pubmed-article:11811142 | lifeskim:mentions | umls-concept:C0017428 | lld:lifeskim |
pubmed-article:11811142 | lifeskim:mentions | umls-concept:C0430054 | lld:lifeskim |
pubmed-article:11811142 | lifeskim:mentions | umls-concept:C1705053 | lld:lifeskim |
pubmed-article:11811142 | pubmed:issue | 8 | lld:pubmed |
pubmed-article:11811142 | pubmed:dateCreated | 2002-1-25 | lld:pubmed |
pubmed-article:11811142 | pubmed:abstractText | Autism is a severe neurodevelopmental disorder defined by social and communication deficits and ritualistic-repetitive behaviors that are detectable in early childhood. The etiology of idiopathic autism is strongly genetic, and oligogenic transmission is likely. The first stage of a two-stage genomic screen for autism was carried out by the Collaborative Linkage Study of Autism on individuals affected with autism from 75 families ascertained through an affected sib-pair. The strongest multipoint results were for regions on chromosomes 13 and 7. The highest maximum multipoint heterogeneity LOD (MMLS/het) score is 3.0 at D13S800 (approximately 55 cM from the telomere) under the recessive model, with an estimated 35% of families linked to this locus. The next highest peak is an MMLS/het score of 2.3 at 19 cM, between D13S217 and D13S1229. Our third highest MMLS/het score of 2.2 is on chromosome 7 and is consistent with the International Molecular Genetic Study of Autism Consortium report of a possible susceptibility locus somewhere within 7q31-33. These regions and others will be followed up in the second stage of our study by typing additional markers in both the original and a second set of identically ascertained autism families, which are currently being collected. By comparing results across a number of studies, we expect to be able to narrow our search for autism susceptibility genes to a small number of genomic regions. | lld:pubmed |
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pubmed-article:11811142 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:11811142 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
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pubmed-article:11811142 | pubmed:language | eng | lld:pubmed |
pubmed-article:11811142 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:11811142 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:11811142 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:11811142 | pubmed:month | Dec | lld:pubmed |
pubmed-article:11811142 | pubmed:issn | 0148-7299 | lld:pubmed |
pubmed-article:11811142 | pubmed:author | pubmed-author:Collaborative... | lld:pubmed |
pubmed-article:11811142 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:11811142 | pubmed:day | 8 | lld:pubmed |
pubmed-article:11811142 | pubmed:volume | 105 | lld:pubmed |
pubmed-article:11811142 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:11811142 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:11811142 | pubmed:pagination | 609-15 | lld:pubmed |
pubmed-article:11811142 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
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pubmed-article:11811142 | pubmed:year | 2001 | lld:pubmed |
pubmed-article:11811142 | pubmed:articleTitle | An autosomal genomic screen for autism. | lld:pubmed |
pubmed-article:11811142 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:11811142 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
pubmed-article:11811142 | pubmed:publicationType | Corrected and Republished Article | lld:pubmed |
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