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| pubmed-article:11700157 | lifeskim:mentions | umls-concept:C0017431 | lld:lifeskim |
| pubmed-article:11700157 | lifeskim:mentions | umls-concept:C0031437 | lld:lifeskim |
| pubmed-article:11700157 | lifeskim:mentions | umls-concept:C1521991 | lld:lifeskim |
| pubmed-article:11700157 | lifeskim:mentions | umls-concept:C1414542 | lld:lifeskim |
| pubmed-article:11700157 | lifeskim:mentions | umls-concept:C2603343 | lld:lifeskim |
| pubmed-article:11700157 | lifeskim:mentions | umls-concept:C0936012 | lld:lifeskim |
| pubmed-article:11700157 | lifeskim:mentions | umls-concept:C1691010 | lld:lifeskim |
| pubmed-article:11700157 | lifeskim:mentions | umls-concept:C0750491 | lld:lifeskim |
| pubmed-article:11700157 | pubmed:issue | 20 | lld:pubmed |
| pubmed-article:11700157 | pubmed:dateCreated | 2001-11-8 | lld:pubmed |
| pubmed-article:11700157 | pubmed:abstractText | Marfan syndrome (MFS) is an underrecognized heritable connective tissue disorder resulting from mutations in the gene for fibrillin-1 (FBN1). Affected patients are at risk for aortic dissection and/or severe ocular and orthopedic problems. The diagnosis is primarily based on a set of well-defined clinical criteria (Ghent nosology). The age-related nature of some clinical manifestations and variable phenotypic expression may hinder the diagnosis, particularly in children. Molecular analysis may be helpful to identify at-risk individuals early and start prophylactic medical treatment. FBN1 mutations have also been reported in patients with Marfan-related conditions, but it is unknown what proportion of all FBN1 mutation carriers they represent. | lld:pubmed |
| pubmed-article:11700157 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11700157 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11700157 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11700157 | pubmed:citationSubset | AIM | lld:pubmed |
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| pubmed-article:11700157 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11700157 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:11700157 | pubmed:issn | 0003-9926 | lld:pubmed |
| pubmed-article:11700157 | pubmed:author | pubmed-author:De BieSS | lld:pubmed |
| pubmed-article:11700157 | pubmed:author | pubmed-author:De PaepeAA | lld:pubmed |
| pubmed-article:11700157 | pubmed:author | pubmed-author:NuytinckLL | lld:pubmed |
| pubmed-article:11700157 | pubmed:author | pubmed-author:LoeysBB | lld:pubmed |
| pubmed-article:11700157 | pubmed:author | pubmed-author:DelvauxII | lld:pubmed |
| pubmed-article:11700157 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11700157 | pubmed:day | 12 | lld:pubmed |
| pubmed-article:11700157 | pubmed:volume | 161 | lld:pubmed |
| pubmed-article:11700157 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11700157 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11700157 | pubmed:pagination | 2447-54 | lld:pubmed |
| pubmed-article:11700157 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:11700157 | pubmed:year | 2001 | lld:pubmed |
| pubmed-article:11700157 | pubmed:articleTitle | Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. | lld:pubmed |
| pubmed-article:11700157 | pubmed:affiliation | Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. anne.depaepe@rug.ac.be | lld:pubmed |
| pubmed-article:11700157 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11700157 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:11700157 | pubmed:publicationType | Validation Studies | lld:pubmed |
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