Matches in SemOpenAlex for { <https://semopenalex.org/work/W4226021976> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W4226021976 endingPage "423" @default.
- W4226021976 startingPage "423" @default.
- W4226021976 abstract "PURPOSE: The purpose of this study was to identify gene mutation and phenotype correlations in a cohort of Taiwanese patients with Stickler syndrome.MATERIALS AND METHODS: Patients clinically diagnosed with Stickler syndrome or suspected Stickler syndrome were enrolled. DNA was extracted from venous blood samples. For the targeted next-generation sequencing (NGS) approach, specific primers were designed for all COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 exons and flanking intron sequences.RESULTS: Twenty-three patients from 12 families were enrolled in this study. The myopia power in these 23 cases (35 eyes) ranged from −4.625 to −25.625 D, with a median of −10.00 D. Four patients had retinal detachment. Fourteen patients had a cleft palate. These 23 patients and 13 healthy controls were enrolled in the NGS study. Three families had significant single nucleotide variants (SNVs) in COL2A1. The mutation rates in this survey were 25% (3/12 families) and 35% (8/23 cases). The SNV of family #1, located at exon 27, c.1753G >T, p. Gly585Val, was novel and has not yet been reported in the ClinVar database. Families #10 and #11 had the same SNV, located in exon 33, c.2101C >T, p. Arg701X. Both variants were classified as likely pathogenic according to the American College of Medical Genetics and Genomics guidelines.CONCLUSION: Genetic mutations in COL2A1 were found in 25% of Taiwanese families with Stickler syndrome. One novel variant was identified using NGS, which expanded the COL2A1 mutation spectrum. Molecular genetic analysis is helpful to confirm the clinical diagnosis of patients with suspected Stickler syndrome." @default.
- W4226021976 created "2022-05-05" @default.
- W4226021976 creator A5029337859 @default.
- W4226021976 creator A5039616986 @default.
- W4226021976 creator A5048953421 @default.
- W4226021976 creator A5050503532 @default.
- W4226021976 creator A5071052727 @default.
- W4226021976 creator A5080298777 @default.
- W4226021976 date "2022-01-01" @default.
- W4226021976 modified "2023-09-26" @default.
- W4226021976 title "Mutation survey in Taiwanese patients with Stickler syndrome" @default.
- W4226021976 cites W173386824 @default.
- W4226021976 cites W1974669154 @default.
- W4226021976 cites W1978525332 @default.
- W4226021976 cites W2000992599 @default.
- W4226021976 cites W2002246675 @default.
- W4226021976 cites W2021299414 @default.
- W4226021976 cites W2033686382 @default.
- W4226021976 cites W2045950073 @default.
- W4226021976 cites W2048929388 @default.
- W4226021976 cites W2051978340 @default.
- W4226021976 cites W2069899527 @default.
- W4226021976 cites W2141027932 @default.
- W4226021976 cites W2143043434 @default.
- W4226021976 cites W2144606074 @default.
- W4226021976 cites W2145689898 @default.
- W4226021976 cites W2146123040 @default.
- W4226021976 cites W2164363851 @default.
- W4226021976 cites W2166888823 @default.
- W4226021976 cites W2168960644 @default.
- W4226021976 cites W2172112282 @default.
- W4226021976 cites W2201540738 @default.
- W4226021976 cites W2263495255 @default.
- W4226021976 cites W2313262205 @default.
- W4226021976 cites W2396857156 @default.
- W4226021976 cites W2467805347 @default.
- W4226021976 cites W2511846463 @default.
- W4226021976 cites W2558931807 @default.
- W4226021976 cites W27779138 @default.
- W4226021976 cites W2900055447 @default.
- W4226021976 cites W2945596986 @default.
- W4226021976 cites W2960930449 @default.
- W4226021976 cites W2983046343 @default.
- W4226021976 cites W3012012975 @default.
- W4226021976 doi "https://doi.org/10.4103/tjo.tjo_3_22" @default.
- W4226021976 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36660125" @default.
- W4226021976 hasPublicationYear "2022" @default.
- W4226021976 type Work @default.
- W4226021976 citedByCount "0" @default.
- W4226021976 crossrefType "journal-article" @default.
- W4226021976 hasAuthorship W4226021976A5029337859 @default.
- W4226021976 hasAuthorship W4226021976A5039616986 @default.
- W4226021976 hasAuthorship W4226021976A5048953421 @default.
- W4226021976 hasAuthorship W4226021976A5050503532 @default.
- W4226021976 hasAuthorship W4226021976A5071052727 @default.
- W4226021976 hasAuthorship W4226021976A5080298777 @default.
- W4226021976 hasBestOaLocation W42260219761 @default.
- W4226021976 hasConcept C104317684 @default.
- W4226021976 hasConcept C36823959 @default.
- W4226021976 hasConcept C501734568 @default.
- W4226021976 hasConcept C51679486 @default.
- W4226021976 hasConcept C54355233 @default.
- W4226021976 hasConcept C60644358 @default.
- W4226021976 hasConcept C64474127 @default.
- W4226021976 hasConcept C71924100 @default.
- W4226021976 hasConcept C86803240 @default.
- W4226021976 hasConceptScore W4226021976C104317684 @default.
- W4226021976 hasConceptScore W4226021976C36823959 @default.
- W4226021976 hasConceptScore W4226021976C501734568 @default.
- W4226021976 hasConceptScore W4226021976C51679486 @default.
- W4226021976 hasConceptScore W4226021976C54355233 @default.
- W4226021976 hasConceptScore W4226021976C60644358 @default.
- W4226021976 hasConceptScore W4226021976C64474127 @default.
- W4226021976 hasConceptScore W4226021976C71924100 @default.
- W4226021976 hasConceptScore W4226021976C86803240 @default.
- W4226021976 hasIssue "4" @default.
- W4226021976 hasLocation W42260219761 @default.
- W4226021976 hasLocation W42260219762 @default.
- W4226021976 hasLocation W42260219763 @default.
- W4226021976 hasLocation W42260219764 @default.
- W4226021976 hasOpenAccess W4226021976 @default.
- W4226021976 hasPrimaryLocation W42260219761 @default.
- W4226021976 hasRelatedWork W2015388398 @default.
- W4226021976 hasRelatedWork W2025851750 @default.
- W4226021976 hasRelatedWork W2039352533 @default.
- W4226021976 hasRelatedWork W2060169551 @default.
- W4226021976 hasRelatedWork W2068932327 @default.
- W4226021976 hasRelatedWork W2168467210 @default.
- W4226021976 hasRelatedWork W2362650105 @default.
- W4226021976 hasRelatedWork W2417766600 @default.
- W4226021976 hasRelatedWork W4242521457 @default.
- W4226021976 hasRelatedWork W3092216457 @default.
- W4226021976 hasVolume "12" @default.
- W4226021976 isParatext "false" @default.
- W4226021976 isRetracted "false" @default.
- W4226021976 workType "article" @default.