Linked Life Data

12544486

Source:http://linkedlifedata.com/resource/pubmed/id/12544486

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6 Suppl
pubmed:dateCreated
2003-1-24
pubmed:abstractText
This article, based on a presentation given by the author at the third Asan-Harvard Medical International Symposium on "Genomics and Proteomics: Impact on Medicine and Health" in Seoul, Korea, July 3-4, 2001, discusses an iterative translational research approach to delineate the basic mechanism of human development. The study of humans to increase the understanding of mammalian development has critical advantages that make its limitations acceptable for certain types of studies. For instance, by looking at families affected by birth defects, researchers can gain insight into the basic mechanisms of development and how genes program organisms to assume their permanent, or adult, morphological shapes. A number of malformation syndromes have some overlapping manifestations, despite being phenotypically and, in some cases, genetically distinct. What can researchers learn from this? The author's research group clinically and genetically analyzed families affected with the Pallister-Hall syndrome. The researchers then went on to look at the McKusick-Kaufman syndrome, a disorder that is more common among the Old Order Amish of Lancaster County, Pennsylvania, in an attempt to understand more about genes, genetic pathways, and syndrome families.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1098-3600
pubmed:author
pubmed:issnType
Print
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
39S-42S
pubmed:dateRevised
2005-11-17
pubmed:meshHeading
pubmed:articleTitle
Coupling genomics and human genetics to delineate basic mechanisms of development.
pubmed:affiliation
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
pubmed:publicationType
Journal Article, Review