Matches in SemOpenAlex for { <https://semopenalex.org/work/W2042700541> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W2042700541 endingPage "271" @default.
- W2042700541 startingPage "269" @default.
- W2042700541 abstract "To report two patients with associated conditions in addition to cystic fibrosis.We reviewed our database and report two patients with cystic fibrosis who had associated conditions. These patients also had novel disease causing CFTR mutations on full gene sequence analysis.We identified 2 patients with novel disease causing cystic fibrosis transmembrane conductance regulator mutations that we report here. A 12-year-old female with cystic fibrosis, diagnosed at 18months, had normal pulmonary function tests and chest X-ray. Her main cystic fibrosis-related health issue was poor growth. Results of cystic fibrosis transmembrane conductance regulator DNA analysis showed deltaF508; L467P; and 7T/9T. She was later diagnosed with Crohn's disease. An 11-year-old male with Rubinstein-Taybi syndrome, diagnosed with cystic fibrosis at 2years of age, had minimal findings on chest X-ray and pancreatic insufficiency. Results of his cystic fibrosis transmembrane conductance regulator DNA analysis showed deltaF508; 4329delCT; and 7T/9T.We report 2 patients with CF who had associated conditions and also had novel disease causing CFTR mutations. Associated conditions may worsen the clinical manifestations of CF and complicate medical management." @default.
- W2042700541 created "2016-06-24" @default.
- W2042700541 creator A5020716174 @default.
- W2042700541 creator A5023175769 @default.
- W2042700541 creator A5050343530 @default.
- W2042700541 date "2010-07-01" @default.
- W2042700541 modified "2023-09-28" @default.
- W2042700541 title "Report of two patients with associated conditions in addition to cystic fibrosis" @default.
- W2042700541 cites W1969697265 @default.
- W2042700541 cites W2003063655 @default.
- W2042700541 cites W2023192638 @default.
- W2042700541 cites W2039599894 @default.
- W2042700541 cites W2117559755 @default.
- W2042700541 doi "https://doi.org/10.1016/j.jcf.2010.04.007" @default.
- W2042700541 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20510657" @default.
- W2042700541 hasPublicationYear "2010" @default.
- W2042700541 type Work @default.
- W2042700541 sameAs 2042700541 @default.
- W2042700541 citedByCount "4" @default.
- W2042700541 countsByYear W20427005412012 @default.
- W2042700541 countsByYear W20427005412016 @default.
- W2042700541 countsByYear W20427005412018 @default.
- W2042700541 crossrefType "journal-article" @default.
- W2042700541 hasAuthorship W2042700541A5020716174 @default.
- W2042700541 hasAuthorship W2042700541A5023175769 @default.
- W2042700541 hasAuthorship W2042700541A5050343530 @default.
- W2042700541 hasBestOaLocation W20427005411 @default.
- W2042700541 hasConcept C126322002 @default.
- W2042700541 hasConcept C187212893 @default.
- W2042700541 hasConcept C2776169613 @default.
- W2042700541 hasConcept C2776737053 @default.
- W2042700541 hasConcept C2776938444 @default.
- W2042700541 hasConcept C2778428886 @default.
- W2042700541 hasConcept C2778764654 @default.
- W2042700541 hasConcept C2779134260 @default.
- W2042700541 hasConcept C2780559512 @default.
- W2042700541 hasConcept C71924100 @default.
- W2042700541 hasConcept C90924648 @default.
- W2042700541 hasConceptScore W2042700541C126322002 @default.
- W2042700541 hasConceptScore W2042700541C187212893 @default.
- W2042700541 hasConceptScore W2042700541C2776169613 @default.
- W2042700541 hasConceptScore W2042700541C2776737053 @default.
- W2042700541 hasConceptScore W2042700541C2776938444 @default.
- W2042700541 hasConceptScore W2042700541C2778428886 @default.
- W2042700541 hasConceptScore W2042700541C2778764654 @default.
- W2042700541 hasConceptScore W2042700541C2779134260 @default.
- W2042700541 hasConceptScore W2042700541C2780559512 @default.
- W2042700541 hasConceptScore W2042700541C71924100 @default.
- W2042700541 hasConceptScore W2042700541C90924648 @default.
- W2042700541 hasIssue "4" @default.
- W2042700541 hasLocation W20427005411 @default.
- W2042700541 hasLocation W20427005412 @default.
- W2042700541 hasOpenAccess W2042700541 @default.
- W2042700541 hasPrimaryLocation W20427005411 @default.
- W2042700541 hasRelatedWork W103398218 @default.
- W2042700541 hasRelatedWork W1984461156 @default.
- W2042700541 hasRelatedWork W2021022452 @default.
- W2042700541 hasRelatedWork W2024184585 @default.
- W2042700541 hasRelatedWork W2042700541 @default.
- W2042700541 hasRelatedWork W2062137132 @default.
- W2042700541 hasRelatedWork W2085546843 @default.
- W2042700541 hasRelatedWork W2086630607 @default.
- W2042700541 hasRelatedWork W2414322479 @default.
- W2042700541 hasRelatedWork W2763808716 @default.
- W2042700541 hasVolume "9" @default.
- W2042700541 isParatext "false" @default.
- W2042700541 isRetracted "false" @default.
- W2042700541 magId "2042700541" @default.
- W2042700541 workType "article" @default.