rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
6
|
pubmed:dateCreated |
2010-5-24
|
pubmed:abstractText |
Primary ciliary dyskinesia is an autosomal recessive multigenic disease that results in impaired mucociliary clearance. We have diagnosed 9 subjects with primary ciliary dyskinesia from geographically dispersed Amish communities, on the basis of clinical characteristics and ciliary ultrastructural defects. Despite consanguinity, affected individuals had evidence of genetic heterogeneity.
|
pubmed:grant |
|
pubmed:commentsCorrections |
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
AIM
|
pubmed:status |
MEDLINE
|
pubmed:month |
Jun
|
pubmed:issn |
1097-6833
|
pubmed:author |
pubmed-author:BowcockAnne MAM,
pubmed-author:BrownDavid EDE3rd,
pubmed-author:CarsonJohn LJL,
pubmed-author:FerkolThomas WTW,
pubmed-author:ForsenJamesJ,
pubmed-author:HazuchaMilan JMJ,
pubmed-author:HelmsCynthiaC,
pubmed-author:KnowlesMichael RMR,
pubmed-author:LeighMargaret WMW,
pubmed-author:LieHauwH,
pubmed-author:MolterDavidD,
pubmed-author:ZariwalaMaimoona AMA
|
pubmed:copyrightInfo |
Copyright 2010 Mosby, Inc. All rights reserved.
|
pubmed:issnType |
Electronic
|
pubmed:volume |
156
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
1023-5
|
pubmed:dateRevised |
2011-11-10
|
pubmed:meshHeading |
pubmed-meshheading:20350728-Adolescent,
pubmed-meshheading:20350728-Adult,
pubmed-meshheading:20350728-Child,
pubmed-meshheading:20350728-Child, Preschool,
pubmed-meshheading:20350728-Christianity,
pubmed-meshheading:20350728-Cilia,
pubmed-meshheading:20350728-Ciliary Motility Disorders,
pubmed-meshheading:20350728-Consanguinity,
pubmed-meshheading:20350728-DNA Mutational Analysis,
pubmed-meshheading:20350728-Female,
pubmed-meshheading:20350728-Humans,
pubmed-meshheading:20350728-Infant,
pubmed-meshheading:20350728-Male,
pubmed-meshheading:20350728-Middle Aged,
pubmed-meshheading:20350728-Mucociliary Clearance,
pubmed-meshheading:20350728-Pedigree,
pubmed-meshheading:20350728-Young Adult
|
pubmed:year |
2010
|
pubmed:articleTitle |
Primary ciliary dyskinesia in Amish communities.
|
pubmed:affiliation |
Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
|