FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000331614> ?p ?o ?g. }

• W2000331614 endingPage "586" @default.
• W2000331614 startingPage "573" @default.
• W2000331614 abstract "PurposeTo investigate the potential influence of additional copy number variants in patients with 15q24 rearrangements and the possible underlying mechanisms for these rearrangements.MethodsOligonucleotide-based chromosomal microarray analyses were performed, and the results were subsequently confirmed by fluorescence in situ hybridization analyses. Long-range polymerase chain reaction amplification and DNA sequencing analysis were used for breakpoint junction sequencing.ResultsWe describe a 15-year-old boy with cognitive impairment and dysmorphic features with deletions in 15q24 and 3q21, a 2-month-old female infant with growth deficiency, heterotaxy, cardiovascular malformations, intestinal atresia, and duplications in 15q24 and 16q22, and a 3.5-year-old boy with developmental delay, microcephaly, and dysmorphic features, with duplications in 15q24 and 2q36.3q37.1. Breakpoint sequencing for the 15q24 deletion in the first patient revealed microhomology and suggested the underlying mechanism of either nonhomologous end joining or fork stalling and template switching/microhomology-mediated break-induced replication.ConclusionsThe three described patients with 15q24 rearrangements have copy number variants at other loci and exhibit additional clinical features with a more severe phenotype than that observed in previously reported patients with isolated 15q24 rearrangements, suggesting that the genomic mutational load may contribute to the phenotypic severity and variability in patients with 15q24 rearrangements." @default.
• W2000331614 created "2016-06-24" @default.
• W2000331614 creator A5000612576 @default.
• W2000331614 creator A5011897880 @default.
• W2000331614 creator A5012430171 @default.
• W2000331614 creator A5038964705 @default.
• W2000331614 creator A5054143389 @default.
• W2000331614 creator A5055403473 @default.
• W2000331614 creator A5061084392 @default.
• W2000331614 creator A5069083064 @default.
• W2000331614 creator A5084027644 @default.
• W2000331614 date "2010-09-01" @default.
• W2000331614 modified "2023-10-16" @default.
• W2000331614 title "Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants" @default.
• W2000331614 cites W1964523379 @default.
• W2000331614 cites W1966895878 @default.
• W2000331614 cites W1967445973 @default.
• W2000331614 cites W1970687210 @default.
• W2000331614 cites W1974312684 @default.
• W2000331614 cites W1976616514 @default.
• W2000331614 cites W1979250362 @default.
• W2000331614 cites W1979525855 @default.
• W2000331614 cites W1981784854 @default.
• W2000331614 cites W1982145351 @default.
• W2000331614 cites W1996261165 @default.
• W2000331614 cites W1996813404 @default.
• W2000331614 cites W1999132350 @default.
• W2000331614 cites W2001296529 @default.
• W2000331614 cites W2007325090 @default.
• W2000331614 cites W2012070523 @default.
• W2000331614 cites W2017151800 @default.
• W2000331614 cites W2017461303 @default.
• W2000331614 cites W2018439155 @default.
• W2000331614 cites W2018558544 @default.
• W2000331614 cites W2027085235 @default.
• W2000331614 cites W2031911590 @default.
• W2000331614 cites W2034979835 @default.
• W2000331614 cites W2035398977 @default.
• W2000331614 cites W2038658579 @default.
• W2000331614 cites W2039310309 @default.
• W2000331614 cites W2039338127 @default.
• W2000331614 cites W2044544988 @default.
• W2000331614 cites W2045325156 @default.
• W2000331614 cites W2045509790 @default.
• W2000331614 cites W2046898089 @default.
• W2000331614 cites W2047166961 @default.
• W2000331614 cites W2052712750 @default.
• W2000331614 cites W2055716398 @default.
• W2000331614 cites W2056113180 @default.
• W2000331614 cites W2060115989 @default.
• W2000331614 cites W2060746502 @default.
• W2000331614 cites W2068385770 @default.
• W2000331614 cites W2072832230 @default.
• W2000331614 cites W2077016335 @default.
• W2000331614 cites W2081678861 @default.
• W2000331614 cites W2081928115 @default.
• W2000331614 cites W2098589211 @default.
• W2000331614 cites W2102138832 @default.
• W2000331614 cites W2106109160 @default.
• W2000331614 cites W2108371668 @default.
• W2000331614 cites W2110607411 @default.
• W2000331614 cites W2124475496 @default.
• W2000331614 cites W2126548245 @default.
• W2000331614 cites W2128160351 @default.
• W2000331614 cites W2130407782 @default.
• W2000331614 cites W2130929529 @default.
• W2000331614 cites W2134748166 @default.
• W2000331614 cites W2137289649 @default.
• W2000331614 cites W2143277343 @default.
• W2000331614 cites W2147429782 @default.
• W2000331614 cites W2148646831 @default.
• W2000331614 cites W2151026121 @default.
• W2000331614 cites W2153120377 @default.
• W2000331614 cites W2155154752 @default.
• W2000331614 cites W2156001353 @default.
• W2000331614 cites W2156081018 @default.
• W2000331614 cites W2156840496 @default.
• W2000331614 cites W2156922030 @default.
• W2000331614 cites W2159327693 @default.
• W2000331614 cites W2163793763 @default.
• W2000331614 cites W2167482501 @default.
• W2000331614 cites W2315705156 @default.
• W2000331614 cites W4245353065 @default.
• W2000331614 doi "https://doi.org/10.1097/gim.0b013e3181eb9b4a" @default.
• W2000331614 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20860070" @default.
• W2000331614 hasPublicationYear "2010" @default.
• W2000331614 type Work @default.
• W2000331614 sameAs 2000331614 @default.
• W2000331614 citedByCount "33" @default.
• W2000331614 countsByYear W20003316142012 @default.
• W2000331614 countsByYear W20003316142013 @default.
• W2000331614 countsByYear W20003316142014 @default.
• W2000331614 countsByYear W20003316142015 @default.
• W2000331614 countsByYear W20003316142016 @default.
• W2000331614 countsByYear W20003316142017 @default.
• W2000331614 countsByYear W20003316142018 @default.
• W2000331614 countsByYear W20003316142020 @default.
• W2000331614 crossrefType "journal-article" @default.

• next