Matches in SemOpenAlex for { <https://semopenalex.org/work/W2066529947> ?p ?o ?g. }
Showing items 1 to 86 of
86
with 100 items per page.
- W2066529947 endingPage "77" @default.
- W2066529947 startingPage "75" @default.
- W2066529947 abstract "Noonan syndrome (NS, OMIM 163950) is a relatively common autosomal dominant disorder and has significant phenotypic overlap with Costello Syndrome and cardio-facio-cutaneous syndrome. Molecular diagnosis is useful for differential diagnosis. PTPN11 gene mutation is the most common mutation associated with NS and hence is a suitable target for molecular diagnostics. High resolution melting (HRM) analysis was used for screening of PTPN11 mutations. Eleven DNA samples with 10 known PTPN11 mutations were used for HRM calibration. Said calibrations were then applied to mutation screening of a panel of 50 additional NS patients. HRM analysis differentiated all of the 10 known mutations and identified 9 additional mutations from 10 patients in the blind study, which is in line with results obtained by sequencing. HRM analysis is a rapid, reliable, and low-cost tool for detection of PTPN11 genetic variants." @default.
- W2066529947 created "2016-06-24" @default.
- W2066529947 creator A5001386353 @default.
- W2066529947 creator A5039255611 @default.
- W2066529947 creator A5058601084 @default.
- W2066529947 creator A5059633879 @default.
- W2066529947 creator A5074583809 @default.
- W2066529947 creator A5090738753 @default.
- W2066529947 date "2009-11-01" @default.
- W2066529947 modified "2023-10-16" @default.
- W2066529947 title "High resolution melting analysis for mutation detection for PTPN11 gene: Applications of this method for diagnosis of Noonan syndrome" @default.
- W2066529947 cites W1488372279 @default.
- W2066529947 cites W1982232165 @default.
- W2066529947 cites W1990966255 @default.
- W2066529947 cites W1999336249 @default.
- W2066529947 cites W2012645327 @default.
- W2066529947 cites W2033157019 @default.
- W2066529947 cites W2036450516 @default.
- W2066529947 cites W2059387110 @default.
- W2066529947 cites W2076182034 @default.
- W2066529947 cites W2129317874 @default.
- W2066529947 doi "https://doi.org/10.1016/j.cca.2009.08.021" @default.
- W2066529947 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19737548" @default.
- W2066529947 hasPublicationYear "2009" @default.
- W2066529947 type Work @default.
- W2066529947 sameAs 2066529947 @default.
- W2066529947 citedByCount "3" @default.
- W2066529947 countsByYear W20665299472012 @default.
- W2066529947 countsByYear W20665299472014 @default.
- W2066529947 crossrefType "journal-article" @default.
- W2066529947 hasAuthorship W2066529947A5001386353 @default.
- W2066529947 hasAuthorship W2066529947A5039255611 @default.
- W2066529947 hasAuthorship W2066529947A5058601084 @default.
- W2066529947 hasAuthorship W2066529947A5059633879 @default.
- W2066529947 hasAuthorship W2066529947A5074583809 @default.
- W2066529947 hasAuthorship W2066529947A5090738753 @default.
- W2066529947 hasConcept C104317684 @default.
- W2066529947 hasConcept C153911025 @default.
- W2066529947 hasConcept C163565370 @default.
- W2066529947 hasConcept C176944494 @default.
- W2066529947 hasConcept C2776149932 @default.
- W2066529947 hasConcept C2781187634 @default.
- W2066529947 hasConcept C2994225774 @default.
- W2066529947 hasConcept C31734879 @default.
- W2066529947 hasConcept C34372108 @default.
- W2066529947 hasConcept C49105822 @default.
- W2066529947 hasConcept C501734568 @default.
- W2066529947 hasConcept C51679486 @default.
- W2066529947 hasConcept C54355233 @default.
- W2066529947 hasConcept C86803240 @default.
- W2066529947 hasConceptScore W2066529947C104317684 @default.
- W2066529947 hasConceptScore W2066529947C153911025 @default.
- W2066529947 hasConceptScore W2066529947C163565370 @default.
- W2066529947 hasConceptScore W2066529947C176944494 @default.
- W2066529947 hasConceptScore W2066529947C2776149932 @default.
- W2066529947 hasConceptScore W2066529947C2781187634 @default.
- W2066529947 hasConceptScore W2066529947C2994225774 @default.
- W2066529947 hasConceptScore W2066529947C31734879 @default.
- W2066529947 hasConceptScore W2066529947C34372108 @default.
- W2066529947 hasConceptScore W2066529947C49105822 @default.
- W2066529947 hasConceptScore W2066529947C501734568 @default.
- W2066529947 hasConceptScore W2066529947C51679486 @default.
- W2066529947 hasConceptScore W2066529947C54355233 @default.
- W2066529947 hasConceptScore W2066529947C86803240 @default.
- W2066529947 hasIssue "1-2" @default.
- W2066529947 hasLocation W20665299471 @default.
- W2066529947 hasLocation W20665299472 @default.
- W2066529947 hasOpenAccess W2066529947 @default.
- W2066529947 hasPrimaryLocation W20665299471 @default.
- W2066529947 hasRelatedWork W1481219085 @default.
- W2066529947 hasRelatedWork W2010926229 @default.
- W2066529947 hasRelatedWork W2031846255 @default.
- W2066529947 hasRelatedWork W2066529947 @default.
- W2066529947 hasRelatedWork W2086374369 @default.
- W2066529947 hasRelatedWork W2090634815 @default.
- W2066529947 hasRelatedWork W2159947623 @default.
- W2066529947 hasRelatedWork W3142433576 @default.
- W2066529947 hasRelatedWork W4312112827 @default.
- W2066529947 hasRelatedWork W2467242970 @default.
- W2066529947 hasVolume "409" @default.
- W2066529947 isParatext "false" @default.
- W2066529947 isRetracted "false" @default.
- W2066529947 magId "2066529947" @default.
- W2066529947 workType "article" @default.