|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
6
|
|
pubmed:dateCreated |
2008-11-25
|
|
pubmed:abstractText |
At the University of Colorado Health Sciences Center, on detailed questioning, approximately 10% of patients with autosomal dominant polycystic kidney disease (ADPKD) gave no family history of ADPKD. There are several explanations for this observation, including occurrence of a de novo pathogenic sequence variant or extreme phenotypic variability. To confirm de novo sequence variants, we have undertaken clinical and genetic screening of affected offspring and their parents.
|
|
pubmed:grant |
|
|
pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-10023895,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-10577909,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-11287778,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-11558899,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-11961010,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-11967008,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-12506140,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-12842373,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-13469269,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-14871869,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-15677307,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-15698423,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-15780078,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-16523049,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-7607660,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-7789949,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-7908078,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-8004675,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-8007586,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-8293321,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-8650545,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-8845849,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-9222969,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18640754-9335384
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Dec
|
|
pubmed:issn |
1523-6838
|
|
pubmed:author |
pubmed-author:ChristopherKarenK,
pubmed-author:FainPamela RPR,
pubmed-author:GabowPatricia APA,
pubmed-author:JohnsonAnnA,
pubmed-author:KelleherCatherineC,
pubmed-author:KimberlingWilliam JWJ,
pubmed-author:McFannKimK,
pubmed-author:PeiYorkY,
pubmed-author:PetersenEricE,
pubmed-author:ReedBereniceB,
pubmed-author:SchrierRobert WRW
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
52
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1042-50
|
|
pubmed:dateRevised |
2011-9-26
|
|
pubmed:meshHeading |
pubmed-meshheading:18640754-Adult,
pubmed-meshheading:18640754-Aged,
pubmed-meshheading:18640754-Aged, 80 and over,
pubmed-meshheading:18640754-Female,
pubmed-meshheading:18640754-Genetic Testing,
pubmed-meshheading:18640754-Humans,
pubmed-meshheading:18640754-Male,
pubmed-meshheading:18640754-Middle Aged,
pubmed-meshheading:18640754-Mutation,
pubmed-meshheading:18640754-Polycystic Kidney, Autosomal Dominant,
pubmed-meshheading:18640754-TRPP Cation Channels,
pubmed-meshheading:18640754-Young Adult
|
|
pubmed:year |
2008
|
|
pubmed:articleTitle |
Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.
|
|
pubmed:affiliation |
Department of Medicine, Division of Renal Diseases and Hypertension, University of Colorado Denver and Health Sciences Center, Aurora, CO 80014, USA. berenice.gitomer@uchsc.edu
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
|
