FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3163245812> ?p ?o ?g. }

• W3163245812 abstract "Objective: 1q44 microdeletion syndrome is difficult to diagnose due to the wide phenotypic spectrum and strong genetic heterogeneity. We explore the correlation between the chromosome microdeletions and phenotype in a child with 1q44 microdeletion syndrome, we collected the clinical features of the patient and combined them with adjacent copy number variation (CNV) regions previously reported. Methods: We collected the full medical history of the patient and summarized her clinical symptoms. Whole-exome sequencing (WES) and CapCNV analysis were performed with DNA extracted from both the patient's and her parents' peripheral blood samples. Fluorescent quantitative PCR (q-PCR) was performed for the use of verification to the CNV regions. Results: A 28.7 KB microdeletion was detected in the 1q44 region by whole-exome sequencing and low-depth whole-genome sequencing. The deleted region included the genes COX20 and HNRNPU. As verification, karyotype analysis showed no abnormality, and the results of qPCR were consistent with that of whole-exome sequencing and CapCNV analysis. Conclusion: The patient was diagnosed with 1q44 microdeletion syndrome with clinical and genetic analysis. Analyzing both whole-exome sequencing and CapCNV analysis can not only improve the diagnostic rate of clinically suspected syndromes that present with intellectual disability (ID) and multiple malformations but also support further study of the correlation between CNVs and clinical phenotypes. This study lays the foundation for the further study of the pathogenesis of complex diseases." @default.
• W3163245812 created "2021-05-24" @default.
• W3163245812 creator A5009825183 @default.
• W3163245812 creator A5028517540 @default.
• W3163245812 creator A5067007582 @default.
• W3163245812 creator A5075666941 @default.
• W3163245812 creator A5080178929 @default.
• W3163245812 creator A5080740698 @default.
• W3163245812 creator A5087055335 @default.
• W3163245812 creator A5090306826 @default.
• W3163245812 date "2021-05-20" @default.
• W3163245812 modified "2023-10-16" @default.
• W3163245812 title "Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay" @default.
• W3163245812 cites W1963557285 @default.
• W3163245812 cites W1980050623 @default.
• W3163245812 cites W2007796510 @default.
• W3163245812 cites W2018581767 @default.
• W3163245812 cites W2047213986 @default.
• W3163245812 cites W2050603672 @default.
• W3163245812 cites W2055073263 @default.
• W3163245812 cites W2055649861 @default.
• W3163245812 cites W2057289665 @default.
• W3163245812 cites W2058931834 @default.
• W3163245812 cites W2079192712 @default.
• W3163245812 cites W2081773296 @default.
• W3163245812 cites W2084858403 @default.
• W3163245812 cites W2131426434 @default.
• W3163245812 cites W2272085518 @default.
• W3163245812 cites W2508250968 @default.
• W3163245812 cites W2514154970 @default.
• W3163245812 cites W2591741230 @default.
• W3163245812 cites W2597574808 @default.
• W3163245812 cites W2601077034 @default.
• W3163245812 cites W2756665723 @default.
• W3163245812 cites W2792866190 @default.
• W3163245812 cites W2884675384 @default.
• W3163245812 doi "https://doi.org/10.3389/fgene.2021.648351" @default.
• W3163245812 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8173053" @default.
• W3163245812 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34093647" @default.
• W3163245812 hasPublicationYear "2021" @default.
• W3163245812 type Work @default.
• W3163245812 sameAs 3163245812 @default.
• W3163245812 citedByCount "7" @default.
• W3163245812 countsByYear W31632458122021 @default.
• W3163245812 countsByYear W31632458122022 @default.
• W3163245812 countsByYear W31632458122023 @default.
• W3163245812 crossrefType "journal-article" @default.
• W3163245812 hasAuthorship W3163245812A5009825183 @default.
• W3163245812 hasAuthorship W3163245812A5028517540 @default.
• W3163245812 hasAuthorship W3163245812A5067007582 @default.
• W3163245812 hasAuthorship W3163245812A5075666941 @default.
• W3163245812 hasAuthorship W3163245812A5080178929 @default.
• W3163245812 hasAuthorship W3163245812A5080740698 @default.
• W3163245812 hasAuthorship W3163245812A5087055335 @default.
• W3163245812 hasAuthorship W3163245812A5090306826 @default.
• W3163245812 hasBestOaLocation W31632458121 @default.
• W3163245812 hasConcept C104317684 @default.
• W3163245812 hasConcept C10590036 @default.
• W3163245812 hasConcept C120821319 @default.
• W3163245812 hasConcept C127716648 @default.
• W3163245812 hasConcept C141231307 @default.
• W3163245812 hasConcept C16671776 @default.
• W3163245812 hasConcept C24432333 @default.
• W3163245812 hasConcept C2776984250 @default.
• W3163245812 hasConcept C30481170 @default.
• W3163245812 hasConcept C51679486 @default.
• W3163245812 hasConcept C53226629 @default.
• W3163245812 hasConcept C54355233 @default.
• W3163245812 hasConcept C60644358 @default.
• W3163245812 hasConcept C64474127 @default.
• W3163245812 hasConcept C71924100 @default.
• W3163245812 hasConcept C86803240 @default.
• W3163245812 hasConceptScore W3163245812C104317684 @default.
• W3163245812 hasConceptScore W3163245812C10590036 @default.
• W3163245812 hasConceptScore W3163245812C120821319 @default.
• W3163245812 hasConceptScore W3163245812C127716648 @default.
• W3163245812 hasConceptScore W3163245812C141231307 @default.
• W3163245812 hasConceptScore W3163245812C16671776 @default.
• W3163245812 hasConceptScore W3163245812C24432333 @default.
• W3163245812 hasConceptScore W3163245812C2776984250 @default.
• W3163245812 hasConceptScore W3163245812C30481170 @default.
• W3163245812 hasConceptScore W3163245812C51679486 @default.
• W3163245812 hasConceptScore W3163245812C53226629 @default.
• W3163245812 hasConceptScore W3163245812C54355233 @default.
• W3163245812 hasConceptScore W3163245812C60644358 @default.
• W3163245812 hasConceptScore W3163245812C64474127 @default.
• W3163245812 hasConceptScore W3163245812C71924100 @default.
• W3163245812 hasConceptScore W3163245812C86803240 @default.
• W3163245812 hasLocation W31632458121 @default.
• W3163245812 hasLocation W31632458122 @default.
• W3163245812 hasOpenAccess W3163245812 @default.
• W3163245812 hasPrimaryLocation W31632458121 @default.
• W3163245812 hasRelatedWork W1804576807 @default.
• W3163245812 hasRelatedWork W1995063759 @default.
• W3163245812 hasRelatedWork W2226624445 @default.
• W3163245812 hasRelatedWork W2486584072 @default.
• W3163245812 hasRelatedWork W2940442343 @default.
• W3163245812 hasRelatedWork W2966818639 @default.
• W3163245812 hasRelatedWork W3008556694 @default.
• W3163245812 hasRelatedWork W3163245812 @default.

• next