| pubmed-article:15856072 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:15856072 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:15856072 | lifeskim:mentions | umls-concept:C0231335 | lld:lifeskim |
| pubmed-article:15856072 | lifeskim:mentions | umls-concept:C1849265 | lld:lifeskim |
| pubmed-article:15856072 | lifeskim:mentions | umls-concept:C0085113 | lld:lifeskim |
| pubmed-article:15856072 | lifeskim:mentions | umls-concept:C0205214 | lld:lifeskim |
| pubmed-article:15856072 | pubmed:issue | 7 | lld:pubmed |
| pubmed-article:15856072 | pubmed:dateCreated | 2005-6-23 | lld:pubmed |
| pubmed-article:15856072 | pubmed:abstractText | While growth retardation and short stature are well-known features of patients with classical neurofibromatosis type 1 (NF1), we found advanced height growth and accelerated carpal bone age in patients with an NF1 microdeletion. Our analysis is based on growth data of 21 patients with common 1.4/1.2 Mb microdeletions, including three patients with a Weaver-like appearance. Overgrowth was most evident in preschool children (2-6 years, n=10, P=0.02). We conclude that childhood overgrowth is part of the phenotypic spectrum in patients with the common 1.4/1.2 Mb NF1 microdeletions and assume that the chromosomal region comprised by the microdeletions contains a gene whose haploinsufficiency causes overgrowth. | lld:pubmed |
| pubmed-article:15856072 | pubmed:language | eng | lld:pubmed |
| pubmed-article:15856072 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15856072 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:15856072 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15856072 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:15856072 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:15856072 | pubmed:issn | 1018-4813 | lld:pubmed |
| pubmed-article:15856072 | pubmed:author | pubmed-author:AlbrechtBeate... | lld:pubmed |
| pubmed-article:15856072 | pubmed:author | pubmed-author:TinschertSigr... | lld:pubmed |
| pubmed-article:15856072 | pubmed:author | pubmed-author:Kehrer-Sawatz... | lld:pubmed |
| pubmed-article:15856072 | pubmed:author | pubmed-author:JenneDieterD | lld:pubmed |
| pubmed-article:15856072 | pubmed:author | pubmed-author:OexleKonradK | lld:pubmed |
| pubmed-article:15856072 | pubmed:author | pubmed-author:SeidelJoergJ | lld:pubmed |
| pubmed-article:15856072 | pubmed:author | pubmed-author:HornDeniseD | lld:pubmed |
| pubmed-article:15856072 | pubmed:author | pubmed-author:SpiegelMiriam... | lld:pubmed |
| pubmed-article:15856072 | pubmed:author | pubmed-author:SeemanováEvaE | lld:pubmed |
| pubmed-article:15856072 | pubmed:author | pubmed-author:RosenbaumThor... | lld:pubmed |
| pubmed-article:15856072 | pubmed:author | pubmed-author:ProttEva-Chri... | lld:pubmed |
| pubmed-article:15856072 | pubmed:author | pubmed-author:WindtElkeE | lld:pubmed |
| pubmed-article:15856072 | pubmed:author | pubmed-author:BuskeAnnegret... | lld:pubmed |
| pubmed-article:15856072 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:15856072 | pubmed:volume | 13 | lld:pubmed |
| pubmed-article:15856072 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:15856072 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:15856072 | pubmed:pagination | 883-8 | lld:pubmed |
| pubmed-article:15856072 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:15856072 | pubmed:meshHeading | pubmed-meshheading:15856072... | lld:pubmed |
| pubmed-article:15856072 | pubmed:meshHeading | pubmed-meshheading:15856072... | lld:pubmed |
| pubmed-article:15856072 | pubmed:meshHeading | pubmed-meshheading:15856072... | lld:pubmed |
| pubmed-article:15856072 | pubmed:meshHeading | pubmed-meshheading:15856072... | lld:pubmed |
| pubmed-article:15856072 | pubmed:meshHeading | pubmed-meshheading:15856072... | lld:pubmed |
| pubmed-article:15856072 | pubmed:meshHeading | pubmed-meshheading:15856072... | lld:pubmed |
| pubmed-article:15856072 | pubmed:meshHeading | pubmed-meshheading:15856072... | lld:pubmed |
| pubmed-article:15856072 | pubmed:meshHeading | pubmed-meshheading:15856072... | lld:pubmed |
| pubmed-article:15856072 | pubmed:meshHeading | pubmed-meshheading:15856072... | lld:pubmed |
| pubmed-article:15856072 | pubmed:meshHeading | pubmed-meshheading:15856072... | lld:pubmed |
| pubmed-article:15856072 | pubmed:meshHeading | pubmed-meshheading:15856072... | lld:pubmed |
| pubmed-article:15856072 | pubmed:meshHeading | pubmed-meshheading:15856072... | lld:pubmed |
| pubmed-article:15856072 | pubmed:meshHeading | pubmed-meshheading:15856072... | lld:pubmed |
| pubmed-article:15856072 | pubmed:meshHeading | pubmed-meshheading:15856072... | lld:pubmed |
| pubmed-article:15856072 | pubmed:meshHeading | pubmed-meshheading:15856072... | lld:pubmed |
| pubmed-article:15856072 | pubmed:year | 2005 | lld:pubmed |
| pubmed-article:15856072 | pubmed:articleTitle | Childhood overgrowth in patients with common NF1 microdeletions. | lld:pubmed |
| pubmed-article:15856072 | pubmed:affiliation | Institut für Medizinische Genetik, Charité, Humboldt-Universität, Berlin, Germany. | lld:pubmed |
| pubmed-article:15856072 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:15856072 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:15856072 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:15856072 | lld:pubmed |
