pubmed-article:8249950 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:8249950 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
pubmed-article:8249950 | lifeskim:mentions | umls-concept:C0012634 | lld:lifeskim |
pubmed-article:8249950 | lifeskim:mentions | umls-concept:C0040715 | lld:lifeskim |
pubmed-article:8249950 | lifeskim:mentions | umls-concept:C0010802 | lld:lifeskim |
pubmed-article:8249950 | lifeskim:mentions | umls-concept:C0001193 | lld:lifeskim |
pubmed-article:8249950 | lifeskim:mentions | umls-concept:C1522702 | lld:lifeskim |
pubmed-article:8249950 | lifeskim:mentions | umls-concept:C1419782 | lld:lifeskim |
pubmed-article:8249950 | lifeskim:mentions | umls-concept:C0599718 | lld:lifeskim |
pubmed-article:8249950 | lifeskim:mentions | umls-concept:C0599813 | lld:lifeskim |
pubmed-article:8249950 | lifeskim:mentions | umls-concept:C0599893 | lld:lifeskim |
pubmed-article:8249950 | lifeskim:mentions | umls-concept:C0038951 | lld:lifeskim |
pubmed-article:8249950 | lifeskim:mentions | umls-concept:C1705535 | lld:lifeskim |
pubmed-article:8249950 | lifeskim:mentions | umls-concept:C1546988 | lld:lifeskim |
pubmed-article:8249950 | pubmed:issue | 12 | lld:pubmed |
pubmed-article:8249950 | pubmed:dateCreated | 1994-1-4 | lld:pubmed |
pubmed-article:8249950 | pubmed:abstractText | The association of Apert syndrome with a translocation (2p-;Cq+) was previously reported in this journal. On reexamination using high-resolution chromosome banding, results showed both the patient and her unaffected father carry the balanced translocation (2;9)(p11.2;q34.2). This finding suggests the rearrangement is unlikely to be the cause of her disorder. Other chromosomal anomalies and genes known to be located at or near these breakpoints and a cytogenetic survey of patients with Apert syndrome are reviewed. | lld:pubmed |
pubmed-article:8249950 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:8249950 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:8249950 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:8249950 | pubmed:language | eng | lld:pubmed |
pubmed-article:8249950 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:8249950 | pubmed:citationSubset | AIM | lld:pubmed |
pubmed-article:8249950 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:8249950 | pubmed:month | Dec | lld:pubmed |
pubmed-article:8249950 | pubmed:issn | 0002-922X | lld:pubmed |
pubmed-article:8249950 | pubmed:author | pubmed-author:CohenM MMMJr | lld:pubmed |
pubmed-article:8249950 | pubmed:author | pubmed-author:HoodJJ | lld:pubmed |
pubmed-article:8249950 | pubmed:author | pubmed-author:WaltersMM | lld:pubmed |
pubmed-article:8249950 | pubmed:author | pubmed-author:KennedyJ... | lld:pubmed |
pubmed-article:8249950 | pubmed:author | pubmed-author:JabsE WEW | lld:pubmed |
pubmed-article:8249950 | pubmed:author | pubmed-author:LewandaA FAF | lld:pubmed |
pubmed-article:8249950 | pubmed:author | pubmed-author:MorseySS | lld:pubmed |
pubmed-article:8249950 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:8249950 | pubmed:volume | 147 | lld:pubmed |
pubmed-article:8249950 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:8249950 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:8249950 | pubmed:pagination | 1306-8 | lld:pubmed |
pubmed-article:8249950 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
pubmed-article:8249950 | pubmed:meshHeading | pubmed-meshheading:8249950-... | lld:pubmed |
pubmed-article:8249950 | pubmed:meshHeading | pubmed-meshheading:8249950-... | lld:pubmed |
pubmed-article:8249950 | pubmed:meshHeading | pubmed-meshheading:8249950-... | lld:pubmed |
pubmed-article:8249950 | pubmed:meshHeading | pubmed-meshheading:8249950-... | lld:pubmed |
pubmed-article:8249950 | pubmed:meshHeading | pubmed-meshheading:8249950-... | lld:pubmed |
pubmed-article:8249950 | pubmed:meshHeading | pubmed-meshheading:8249950-... | lld:pubmed |
pubmed-article:8249950 | pubmed:meshHeading | pubmed-meshheading:8249950-... | lld:pubmed |
pubmed-article:8249950 | pubmed:meshHeading | pubmed-meshheading:8249950-... | lld:pubmed |
pubmed-article:8249950 | pubmed:meshHeading | pubmed-meshheading:8249950-... | lld:pubmed |
pubmed-article:8249950 | pubmed:meshHeading | pubmed-meshheading:8249950-... | lld:pubmed |
pubmed-article:8249950 | pubmed:meshHeading | pubmed-meshheading:8249950-... | lld:pubmed |
pubmed-article:8249950 | pubmed:year | 1993 | lld:pubmed |
pubmed-article:8249950 | pubmed:articleTitle | Cytogenetic survey of Apert syndrome. Reevaluation of a translocation (2;9)(p11.2;q34.2) in a patient suggests the breakpoints are not related to the disorder. | lld:pubmed |
pubmed-article:8249950 | pubmed:affiliation | Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21287-3914. | lld:pubmed |
pubmed-article:8249950 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:8249950 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
pubmed-article:8249950 | pubmed:publicationType | Case Reports | lld:pubmed |
http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8249950 | lld:pubmed |
http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8249950 | lld:pubmed |