| pubmed-article:20686492 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20686492 | lifeskim:mentions | umls-concept:C0012236 | lld:lifeskim |
| pubmed-article:20686492 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:20686492 | lifeskim:mentions | umls-concept:C0205082 | lld:lifeskim |
| pubmed-article:20686492 | lifeskim:mentions | umls-concept:C1521991 | lld:lifeskim |
| pubmed-article:20686492 | lifeskim:mentions | umls-concept:C1261322 | lld:lifeskim |
| pubmed-article:20686492 | lifeskim:mentions | umls-concept:C1427038 | lld:lifeskim |
| pubmed-article:20686492 | lifeskim:mentions | umls-concept:C2708283 | lld:lifeskim |
| pubmed-article:20686492 | lifeskim:mentions | umls-concept:C1706211 | lld:lifeskim |
| pubmed-article:20686492 | lifeskim:mentions | umls-concept:C0205195 | lld:lifeskim |
| pubmed-article:20686492 | lifeskim:mentions | umls-concept:C0007961 | lld:lifeskim |
| pubmed-article:20686492 | lifeskim:mentions | umls-concept:C0678227 | lld:lifeskim |
| pubmed-article:20686492 | lifeskim:mentions | umls-concept:C1546426 | lld:lifeskim |
| pubmed-article:20686492 | lifeskim:mentions | umls-concept:C1548280 | lld:lifeskim |
| pubmed-article:20686492 | pubmed:issue | 11 | lld:pubmed |
| pubmed-article:20686492 | pubmed:dateCreated | 2010-11-25 | lld:pubmed |
| pubmed-article:20686492 | pubmed:abstractText | Phenotypic variation in CHARGE syndrome remains unexplained. A subcategory of CHARGE patients show overlapping phenotypic characteristics with DiGeorge syndrome (thymic hypo/aplasia, hypocalcemia, T-cell immunodeficiency). Very few have been tested or reported to carry a mutation of the CHD7 (chromodomain helicase DNA-binding domain) gene detected in two-thirds of CHARGE patients. In an attempt to explore the genetic background of a severe CHARGE/DiGeorge phenotype, we performed comparative genomic array hybridization in an infant carrier of a CHD7 mutation. The high-resolution comparative genomic array hybridization revealed interesting findings, including a deletion distal to the DiGeorge region and disruptions in other chromosomal regions of genes implicated in immunological and other functions possibly contributing to the patient's severe phenotype and early death. | lld:pubmed |
| pubmed-article:20686492 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20686492 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20686492 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:20686492 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20686492 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20686492 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20686492 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20686492 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20686492 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:20686492 | pubmed:issn | 1435-232X | lld:pubmed |
| pubmed-article:20686492 | pubmed:author | pubmed-author:De... | lld:pubmed |
| pubmed-article:20686492 | pubmed:author | pubmed-author:TzetisMariaM | lld:pubmed |
| pubmed-article:20686492 | pubmed:author | pubmed-author:KanavakisEmma... | lld:pubmed |
| pubmed-article:20686492 | pubmed:author | pubmed-author:KanariouMaria... | lld:pubmed |
| pubmed-article:20686492 | pubmed:author | pubmed-author:SiahanidouTan... | lld:pubmed |
| pubmed-article:20686492 | pubmed:author | pubmed-author:FryssiraHelen... | lld:pubmed |
| pubmed-article:20686492 | pubmed:author | pubmed-author:Makrythanasis... | lld:pubmed |
| pubmed-article:20686492 | pubmed:author | pubmed-author:KaliakatsosMa... | lld:pubmed |
| pubmed-article:20686492 | pubmed:author | pubmed-author:Giannakopoulo... | lld:pubmed |
| pubmed-article:20686492 | pubmed:author | pubmed-author:GiannikouKrin... | lld:pubmed |
| pubmed-article:20686492 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20686492 | pubmed:volume | 55 | lld:pubmed |
| pubmed-article:20686492 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20686492 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20686492 | pubmed:pagination | 761-3 | lld:pubmed |
| pubmed-article:20686492 | pubmed:meshHeading | pubmed-meshheading:20686492... | lld:pubmed |
| pubmed-article:20686492 | pubmed:meshHeading | pubmed-meshheading:20686492... | lld:pubmed |
| pubmed-article:20686492 | pubmed:meshHeading | pubmed-meshheading:20686492... | lld:pubmed |
| pubmed-article:20686492 | pubmed:meshHeading | pubmed-meshheading:20686492... | lld:pubmed |
| pubmed-article:20686492 | pubmed:meshHeading | pubmed-meshheading:20686492... | lld:pubmed |
| pubmed-article:20686492 | pubmed:meshHeading | pubmed-meshheading:20686492... | lld:pubmed |
| pubmed-article:20686492 | pubmed:meshHeading | pubmed-meshheading:20686492... | lld:pubmed |
| pubmed-article:20686492 | pubmed:meshHeading | pubmed-meshheading:20686492... | lld:pubmed |
| pubmed-article:20686492 | pubmed:meshHeading | pubmed-meshheading:20686492... | lld:pubmed |
| pubmed-article:20686492 | pubmed:meshHeading | pubmed-meshheading:20686492... | lld:pubmed |
| pubmed-article:20686492 | pubmed:meshHeading | pubmed-meshheading:20686492... | lld:pubmed |
| pubmed-article:20686492 | pubmed:meshHeading | pubmed-meshheading:20686492... | lld:pubmed |
| pubmed-article:20686492 | pubmed:meshHeading | pubmed-meshheading:20686492... | lld:pubmed |
| pubmed-article:20686492 | pubmed:meshHeading | pubmed-meshheading:20686492... | lld:pubmed |
| pubmed-article:20686492 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:20686492 | pubmed:articleTitle | Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH. | lld:pubmed |
| pubmed-article:20686492 | pubmed:affiliation | Neonatal Unit, First Department of Pediatrics, Medical School, University of Athens, Athens, Greece. | lld:pubmed |
| pubmed-article:20686492 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:20686492 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:20686492 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
