FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2028550753> ?p ?o ?g. }

• W2028550753 endingPage "178" @default.
• W2028550753 startingPage "173" @default.
• W2028550753 abstract "Cleft lip with or without cleft palate is one of the most common birth defects of unknown etiology. A fraction of its genetic causes is attributable to copy number variations detected by array comparative genomic hybridization. The value of array comparative genomic hybridization screening as a first-tier test in the newborn population with multiple congenital anomalies has now been accepted. Due to unspecific clinical picture at this age, it can also be applied to neonates with isolated anomalies. Our purpose was to assess utility of array comparative genomic hybridization in the population of newborns with isolated cleft lip and palate. We conducted the study in a group of 52 Polish newborns with apparently isolated cleft lip and palate. In the study group, we found 8 rearrangements. Of these, 2 de novo events have been noted that potentially explain the phenotype. In addition, 2 novel candidate genes for cleft lip and palate, <i>CHN2</i> and <i>CDH19</i>, are suggested. Given the high number of inherited potentially benign changes, we question the clinical utility of array comparative genomic hybridization in the newborn population with isolated cleft lip and palate, at the same time pointing to the need of skilled professional's clinical assessment at a later age. However, the value of this technology in searching for the cause of isolated anomalies cannot be underestimated." @default.
• W2028550753 created "2016-06-24" @default.
• W2028550753 creator A5001621149 @default.
• W2028550753 creator A5012935667 @default.
• W2028550753 creator A5017352390 @default.
• W2028550753 creator A5037180800 @default.
• W2028550753 creator A5042879007 @default.
• W2028550753 creator A5053238980 @default.
• W2028550753 creator A5058134606 @default.
• W2028550753 creator A5060924248 @default.
• W2028550753 creator A5063852807 @default.
• W2028550753 creator A5079789446 @default.
• W2028550753 date "2015-01-01" @default.
• W2028550753 modified "2023-10-14" @default.
• W2028550753 title "High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate" @default.
• W2028550753 cites W1545163627 @default.
• W2028550753 cites W1889850148 @default.
• W2028550753 cites W1945268184 @default.
• W2028550753 cites W1969211599 @default.
• W2028550753 cites W1976799621 @default.
• W2028550753 cites W1976821733 @default.
• W2028550753 cites W1982777669 @default.
• W2028550753 cites W1985225356 @default.
• W2028550753 cites W1986819584 @default.
• W2028550753 cites W2007923680 @default.
• W2028550753 cites W2010888896 @default.
• W2028550753 cites W2013153062 @default.
• W2028550753 cites W2024478657 @default.
• W2028550753 cites W2032792789 @default.
• W2028550753 cites W2036841261 @default.
• W2028550753 cites W2037650454 @default.
• W2028550753 cites W2044137549 @default.
• W2028550753 cites W2053684610 @default.
• W2028550753 cites W2063739474 @default.
• W2028550753 cites W2073255863 @default.
• W2028550753 cites W2084523132 @default.
• W2028550753 cites W2089283237 @default.
• W2028550753 cites W2089921330 @default.
• W2028550753 cites W2090315880 @default.
• W2028550753 cites W2116523561 @default.
• W2028550753 cites W2131036795 @default.
• W2028550753 cites W2139074554 @default.
• W2028550753 cites W2141704631 @default.
• W2028550753 cites W2145108229 @default.
• W2028550753 cites W2331819373 @default.
• W2028550753 doi "https://doi.org/10.1159/000368878" @default.
• W2028550753 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25613075" @default.
• W2028550753 hasPublicationYear "2015" @default.
• W2028550753 type Work @default.
• W2028550753 sameAs 2028550753 @default.
• W2028550753 citedByCount "8" @default.
• W2028550753 countsByYear W20285507532016 @default.
• W2028550753 countsByYear W20285507532018 @default.
• W2028550753 countsByYear W20285507532021 @default.
• W2028550753 countsByYear W20285507532022 @default.
• W2028550753 countsByYear W20285507532023 @default.
• W2028550753 crossrefType "journal-article" @default.
• W2028550753 hasAuthorship W2028550753A5001621149 @default.
• W2028550753 hasAuthorship W2028550753A5012935667 @default.
• W2028550753 hasAuthorship W2028550753A5017352390 @default.
• W2028550753 hasAuthorship W2028550753A5037180800 @default.
• W2028550753 hasAuthorship W2028550753A5042879007 @default.
• W2028550753 hasAuthorship W2028550753A5053238980 @default.
• W2028550753 hasAuthorship W2028550753A5058134606 @default.
• W2028550753 hasAuthorship W2028550753A5060924248 @default.
• W2028550753 hasAuthorship W2028550753A5063852807 @default.
• W2028550753 hasAuthorship W2028550753A5079789446 @default.
• W2028550753 hasConcept C104317684 @default.
• W2028550753 hasConcept C120821319 @default.
• W2028550753 hasConcept C124942203 @default.
• W2028550753 hasConcept C137627325 @default.
• W2028550753 hasConcept C141231307 @default.
• W2028550753 hasConcept C142724271 @default.
• W2028550753 hasConcept C2777542201 @default.
• W2028550753 hasConcept C2908647359 @default.
• W2028550753 hasConcept C30481170 @default.
• W2028550753 hasConcept C54355233 @default.
• W2028550753 hasConcept C71924100 @default.
• W2028550753 hasConcept C86803240 @default.
• W2028550753 hasConcept C99454951 @default.
• W2028550753 hasConceptScore W2028550753C104317684 @default.
• W2028550753 hasConceptScore W2028550753C120821319 @default.
• W2028550753 hasConceptScore W2028550753C124942203 @default.
• W2028550753 hasConceptScore W2028550753C137627325 @default.
• W2028550753 hasConceptScore W2028550753C141231307 @default.
• W2028550753 hasConceptScore W2028550753C142724271 @default.
• W2028550753 hasConceptScore W2028550753C2777542201 @default.
• W2028550753 hasConceptScore W2028550753C2908647359 @default.
• W2028550753 hasConceptScore W2028550753C30481170 @default.
• W2028550753 hasConceptScore W2028550753C54355233 @default.
• W2028550753 hasConceptScore W2028550753C71924100 @default.
• W2028550753 hasConceptScore W2028550753C86803240 @default.
• W2028550753 hasConceptScore W2028550753C99454951 @default.
• W2028550753 hasIssue "3" @default.
• W2028550753 hasLocation W20285507531 @default.
• W2028550753 hasLocation W20285507532 @default.
• W2028550753 hasOpenAccess W2028550753 @default.
• W2028550753 hasPrimaryLocation W20285507531 @default.

• next