| pubmed-article:9028455 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9028455 | lifeskim:mentions | umls-concept:C0935660 | lld:lifeskim |
| pubmed-article:9028455 | lifeskim:mentions | umls-concept:C1519302 | lld:lifeskim |
| pubmed-article:9028455 | lifeskim:mentions | umls-concept:C1442161 | lld:lifeskim |
| pubmed-article:9028455 | lifeskim:mentions | umls-concept:C0012872 | lld:lifeskim |
| pubmed-article:9028455 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:9028455 | pubmed:dateCreated | 1997-4-25 | lld:pubmed |
| pubmed-article:9028455 | pubmed:abstractText | Cono-truncal cardiac malformations account for some 50% of congenital heart defects in newborn infants. Recently, hemizygosity for chromosome 22q11.2 was reported in patients with the DiGeorge/Velo-cardio-facial syndromes (DGS/VCFS) and causally related disorders. We have explored the potential use of microsatellite DNA markers for rapid detection of 22q11 deletions in 19 newborn infants referred for cono-truncal heart malformations with associated DGS/VCFS anomalies. A failure of parental inheritance was documented in 84.2% of cases (16/19). PCR-based genotyping using microsatellite DNA markers located within the commonly deleted region allowed us either to confirm or reject a 22q11 microdeletion in 94.3% of cases (18/19) within 24 hours. This test is now currently performed in the infants referred to us for a cono-truncal heart malformation as a first intention screening for 22q11 microdeletion. | lld:pubmed |
| pubmed-article:9028455 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9028455 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9028455 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9028455 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9028455 | pubmed:month | Jan | lld:pubmed |
| pubmed-article:9028455 | pubmed:issn | 0148-7299 | lld:pubmed |
| pubmed-article:9028455 | pubmed:author | pubmed-author:LüssK DKD | lld:pubmed |
| pubmed-article:9028455 | pubmed:author | pubmed-author:KachanerJJ | lld:pubmed |
| pubmed-article:9028455 | pubmed:author | pubmed-author:BonnetDD | lld:pubmed |
| pubmed-article:9028455 | pubmed:author | pubmed-author:MunnichAA | lld:pubmed |
| pubmed-article:9028455 | pubmed:author | pubmed-author:LyonnetSS | lld:pubmed |
| pubmed-article:9028455 | pubmed:author | pubmed-author:Cormier-Daire... | lld:pubmed |
| pubmed-article:9028455 | pubmed:author | pubmed-author:SzezepanskiII | lld:pubmed |
| pubmed-article:9028455 | pubmed:author | pubmed-author:SouillardPP | lld:pubmed |
| pubmed-article:9028455 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9028455 | pubmed:day | 20 | lld:pubmed |
| pubmed-article:9028455 | pubmed:volume | 68 | lld:pubmed |
| pubmed-article:9028455 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9028455 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9028455 | pubmed:pagination | 182-4 | lld:pubmed |
| pubmed-article:9028455 | pubmed:dateRevised | 2004-11-17 | lld:pubmed |
| pubmed-article:9028455 | pubmed:meshHeading | pubmed-meshheading:9028455-... | lld:pubmed |
| pubmed-article:9028455 | pubmed:meshHeading | pubmed-meshheading:9028455-... | lld:pubmed |
| pubmed-article:9028455 | pubmed:meshHeading | pubmed-meshheading:9028455-... | lld:pubmed |
| pubmed-article:9028455 | pubmed:meshHeading | pubmed-meshheading:9028455-... | lld:pubmed |
| pubmed-article:9028455 | pubmed:meshHeading | pubmed-meshheading:9028455-... | lld:pubmed |
| pubmed-article:9028455 | pubmed:meshHeading | pubmed-meshheading:9028455-... | lld:pubmed |
| pubmed-article:9028455 | pubmed:meshHeading | pubmed-meshheading:9028455-... | lld:pubmed |
| pubmed-article:9028455 | pubmed:meshHeading | pubmed-meshheading:9028455-... | lld:pubmed |
| pubmed-article:9028455 | pubmed:meshHeading | pubmed-meshheading:9028455-... | lld:pubmed |
| pubmed-article:9028455 | pubmed:meshHeading | pubmed-meshheading:9028455-... | lld:pubmed |
| pubmed-article:9028455 | pubmed:meshHeading | pubmed-meshheading:9028455-... | lld:pubmed |
| pubmed-article:9028455 | pubmed:year | 1997 | lld:pubmed |
| pubmed-article:9028455 | pubmed:articleTitle | Microsatellite DNA markers detects 95% of chromosome 22q11 deletions. | lld:pubmed |
| pubmed-article:9028455 | pubmed:affiliation | Unité de Recherches sur les Handicaps Génétiques de l'Enfant-INSERM U-393, Hôpital des Enfants Malades, Paris, France. | lld:pubmed |
| pubmed-article:9028455 | pubmed:publicationType | Journal Article | lld:pubmed |
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