Matches in SemOpenAlex for { <https://semopenalex.org/work/W3185132979> ?p ?o ?g. }
Showing items 1 to 90 of
90
with 100 items per page.
- W3185132979 endingPage "715" @default.
- W3185132979 startingPage "711" @default.
- W3185132979 abstract "To analyze the potential genetic cause of thrombocytopenia-absent radius (TAR) syndrome in a family and provide prenatal diagnosis for them.Genetic mutation analysis of the sporadic family with TAR syndrome was performed with chromosome microarray analysis (CMA), quantitative polymerase chain reaction (qPCR) and Sanger sequencing. DNA samples were collected from 4 members of the family, including the proband, her parents and her sister. CMA, qPCR and Sanger sequencing were performed to determine the pathogenic mutation and prenatal diagnosis of the fetus was made accordingly.The proband had a 378 kb genomic heterozygous deletion in 1q21.1, which contained RBM8 A and other genes. c.-21G>A mutation was also found in the RBM8 A of the proband. The above-mentioned microdeletion and mutation were inherited from the mother and father, respectively. Prenatal CMA suggested that the fetus carried a 378 kb microdeletion in 1q21.1, and DNA testing did not find c.-21G>A mutation.The heterozygous deletion in 1q21.1 and RBM8 A: c.-21G>A is considered to be the genetic etiology of TAR syndrome in the family. The study provides information for subsequent family genetic counseling and prenatal diagnosis." @default.
- W3185132979 created "2021-08-02" @default.
- W3185132979 creator A5018600177 @default.
- W3185132979 creator A5030724519 @default.
- W3185132979 creator A5061027489 @default.
- W3185132979 creator A5091854081 @default.
- W3185132979 date "2021-07-01" @default.
- W3185132979 modified "2023-09-25" @default.
- W3185132979 title "[Genetic Study and Prenatal Diagnosis of a Family with Thrombocytopenia-Absent Radius (TAR) Syndrome]." @default.
- W3185132979 cites W1966028492 @default.
- W3185132979 cites W1989445638 @default.
- W3185132979 cites W2001475328 @default.
- W3185132979 cites W2119846312 @default.
- W3185132979 cites W2124516451 @default.
- W3185132979 cites W2124908019 @default.
- W3185132979 cites W2192202626 @default.
- W3185132979 cites W2343034040 @default.
- W3185132979 cites W2610557320 @default.
- W3185132979 cites W2751424012 @default.
- W3185132979 cites W2795315061 @default.
- W3185132979 cites W2958242125 @default.
- W3185132979 cites W2965328740 @default.
- W3185132979 cites W2999256464 @default.
- W3185132979 cites W3007869339 @default.
- W3185132979 cites W3009025337 @default.
- W3185132979 cites W3036396859 @default.
- W3185132979 cites W4243088921 @default.
- W3185132979 doi "https://doi.org/10.12182/20210760508" @default.
- W3185132979 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34323054" @default.
- W3185132979 hasPublicationYear "2021" @default.
- W3185132979 type Work @default.
- W3185132979 sameAs 3185132979 @default.
- W3185132979 citedByCount "1" @default.
- W3185132979 countsByYear W31851329792022 @default.
- W3185132979 crossrefType "journal-article" @default.
- W3185132979 hasAuthorship W3185132979A5018600177 @default.
- W3185132979 hasAuthorship W3185132979A5030724519 @default.
- W3185132979 hasAuthorship W3185132979A5061027489 @default.
- W3185132979 hasAuthorship W3185132979A5091854081 @default.
- W3185132979 hasConcept C104317684 @default.
- W3185132979 hasConcept C16671776 @default.
- W3185132979 hasConcept C172680121 @default.
- W3185132979 hasConcept C17757408 @default.
- W3185132979 hasConcept C188997412 @default.
- W3185132979 hasConcept C2778258057 @default.
- W3185132979 hasConcept C2779234561 @default.
- W3185132979 hasConcept C2780673598 @default.
- W3185132979 hasConcept C49105822 @default.
- W3185132979 hasConcept C501734568 @default.
- W3185132979 hasConcept C54355233 @default.
- W3185132979 hasConcept C71924100 @default.
- W3185132979 hasConcept C76818968 @default.
- W3185132979 hasConcept C80227256 @default.
- W3185132979 hasConcept C86803240 @default.
- W3185132979 hasConceptScore W3185132979C104317684 @default.
- W3185132979 hasConceptScore W3185132979C16671776 @default.
- W3185132979 hasConceptScore W3185132979C172680121 @default.
- W3185132979 hasConceptScore W3185132979C17757408 @default.
- W3185132979 hasConceptScore W3185132979C188997412 @default.
- W3185132979 hasConceptScore W3185132979C2778258057 @default.
- W3185132979 hasConceptScore W3185132979C2779234561 @default.
- W3185132979 hasConceptScore W3185132979C2780673598 @default.
- W3185132979 hasConceptScore W3185132979C49105822 @default.
- W3185132979 hasConceptScore W3185132979C501734568 @default.
- W3185132979 hasConceptScore W3185132979C54355233 @default.
- W3185132979 hasConceptScore W3185132979C71924100 @default.
- W3185132979 hasConceptScore W3185132979C76818968 @default.
- W3185132979 hasConceptScore W3185132979C80227256 @default.
- W3185132979 hasConceptScore W3185132979C86803240 @default.
- W3185132979 hasIssue "4" @default.
- W3185132979 hasLocation W31851329791 @default.
- W3185132979 hasOpenAccess W3185132979 @default.
- W3185132979 hasPrimaryLocation W31851329791 @default.
- W3185132979 hasRelatedWork W1807785859 @default.
- W3185132979 hasRelatedWork W2198170080 @default.
- W3185132979 hasRelatedWork W2735588156 @default.
- W3185132979 hasRelatedWork W2756009492 @default.
- W3185132979 hasRelatedWork W2901605975 @default.
- W3185132979 hasRelatedWork W2947178064 @default.
- W3185132979 hasRelatedWork W2993220934 @default.
- W3185132979 hasRelatedWork W3024655264 @default.
- W3185132979 hasRelatedWork W3101780236 @default.
- W3185132979 hasRelatedWork W3113060498 @default.
- W3185132979 hasVolume "52" @default.
- W3185132979 isParatext "false" @default.
- W3185132979 isRetracted "false" @default.
- W3185132979 magId "3185132979" @default.
- W3185132979 workType "article" @default.