Linked Life Data

12668596

Source:http://linkedlifedata.com/resource/pubmed/id/12668596

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2003-4-1
pubmed:databankReference
pubmed:abstractText
Rapid developments in the elucidation of simple Mendelian traits in humans, the complexity of genotype-phenotype relationships, and the growing appreciation of complex genetic traits have conspired to focus interest on the role of modifier genes in humans. This paper reviews categories of genetic modifiers and their effects and then discusses non-Mendelian inheritance patterns involving modifier genes. Although genetic models from many disease classes of human and model systems will be considered, we focus this review on the implications for the understanding of pleiotropic malformation syndromes. Genetic modifiers have so far been molecularly defined in relatively few malformation syndromes, but the rapid acknowledgement of their critical role in human development is an exciting advance in contemporary attempts to understand the relationship of phenotype and genotype.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0964-6906
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
12 Spec No 1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
R45-50
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Genetic modifiers in human development and malformation syndromes, including chaperone proteins.
pubmed:affiliation
Department of Pediatrics, Division of Genetics, Room U585P, UCSF, 533 Parnassus St, San Francisco, CA, USA. slavotia@peds.ucsf.edu
pubmed:publicationType
Journal Article, Review