Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313244829> ?p ?o ?g. }
- W4313244829 endingPage "74" @default.
- W4313244829 startingPage "74" @default.
- W4313244829 abstract "The overlapping genetic and clinical spectrum in inherited retinal degeneration (IRD) creates challenges for accurate diagnoses. The goal of this work was to determine the genetic diagnosis and clinical features for patients diagnosed with an IRD. After signing informed consent, peripheral blood or saliva was collected from 64 patients diagnosed with an IRD. Genetic testing was performed on each patient in a Clinical Laboratory Improvement Amendments of 1988 (CLIA) certified laboratory. Mutations were verified with Sanger sequencing and segregation analysis when possible. Visual acuity was measured with a traditional Snellen chart and converted to a logarithm of minimal angle of resolution (logMAR). Fundus images of dilated eyes were acquired with the Optos® camera (Dunfermline, UK). Horizontal line scans were obtained with spectral-domain optical coherence tomography (SDOCT; Spectralis, Heidelberg, Germany). Genetic testing combined with segregation analysis resolved molecular and clinical diagnoses for 75% of patients. Ten novel mutations were found and unique genotype phenotype associations were made for the genes RP2 and CEP83. Collective knowledge is thereby expanded of the genetic basis and phenotypic correlation in IRD." @default.
- W4313244829 created "2023-01-06" @default.
- W4313244829 creator A5011323832 @default.
- W4313244829 creator A5023954576 @default.
- W4313244829 creator A5038872556 @default.
- W4313244829 creator A5041809482 @default.
- W4313244829 creator A5041918745 @default.
- W4313244829 creator A5056602892 @default.
- W4313244829 creator A5072336899 @default.
- W4313244829 creator A5075550291 @default.
- W4313244829 creator A5078756124 @default.
- W4313244829 creator A5078822112 @default.
- W4313244829 date "2022-12-26" @default.
- W4313244829 modified "2023-10-01" @default.
- W4313244829 title "Genetic Diagnosis for 64 Patients with Inherited Retinal Disease" @default.
- W4313244829 cites W1503104403 @default.
- W4313244829 cites W1571786712 @default.
- W4313244829 cites W1963520678 @default.
- W4313244829 cites W1967526434 @default.
- W4313244829 cites W1970799201 @default.
- W4313244829 cites W1971800225 @default.
- W4313244829 cites W1977170771 @default.
- W4313244829 cites W1977442119 @default.
- W4313244829 cites W1979182088 @default.
- W4313244829 cites W1981432109 @default.
- W4313244829 cites W1986126870 @default.
- W4313244829 cites W1986925219 @default.
- W4313244829 cites W1990801986 @default.
- W4313244829 cites W2003835586 @default.
- W4313244829 cites W2010263520 @default.
- W4313244829 cites W2012444311 @default.
- W4313244829 cites W2015944929 @default.
- W4313244829 cites W2016410640 @default.
- W4313244829 cites W2033766346 @default.
- W4313244829 cites W2036505824 @default.
- W4313244829 cites W2039547062 @default.
- W4313244829 cites W2039557014 @default.
- W4313244829 cites W2041749831 @default.
- W4313244829 cites W2049833320 @default.
- W4313244829 cites W2051942087 @default.
- W4313244829 cites W2051978340 @default.
- W4313244829 cites W2057898040 @default.
- W4313244829 cites W2063347806 @default.
- W4313244829 cites W2064844186 @default.
- W4313244829 cites W2067309915 @default.
- W4313244829 cites W2077274995 @default.
- W4313244829 cites W2077602259 @default.
- W4313244829 cites W2077712321 @default.
- W4313244829 cites W2081734811 @default.
- W4313244829 cites W2084989979 @default.
- W4313244829 cites W2087627928 @default.
- W4313244829 cites W2089192839 @default.
- W4313244829 cites W2098401829 @default.
- W4313244829 cites W2100449026 @default.
- W4313244829 cites W2105924341 @default.
- W4313244829 cites W2111637908 @default.
- W4313244829 cites W2112391462 @default.
- W4313244829 cites W2117223688 @default.
- W4313244829 cites W2123330867 @default.
- W4313244829 cites W2137998870 @default.
- W4313244829 cites W2145599636 @default.
- W4313244829 cites W2150532966 @default.
- W4313244829 cites W2152853777 @default.
- W4313244829 cites W2154826595 @default.
- W4313244829 cites W2155038179 @default.
- W4313244829 cites W2158551784 @default.
- W4313244829 cites W2159266957 @default.
- W4313244829 cites W2161723666 @default.
- W4313244829 cites W2162290849 @default.
- W4313244829 cites W2162769049 @default.
- W4313244829 cites W2163330778 @default.
- W4313244829 cites W2166376927 @default.
- W4313244829 cites W2168194443 @default.
- W4313244829 cites W2170750428 @default.
- W4313244829 cites W2255190151 @default.
- W4313244829 cites W2283684528 @default.
- W4313244829 cites W2313345084 @default.
- W4313244829 cites W2323119641 @default.
- W4313244829 cites W2467114002 @default.
- W4313244829 cites W2530763367 @default.
- W4313244829 cites W2538871089 @default.
- W4313244829 cites W2564368426 @default.
- W4313244829 cites W2580098324 @default.
- W4313244829 cites W2580288737 @default.
- W4313244829 cites W2599726819 @default.
- W4313244829 cites W2620518508 @default.
- W4313244829 cites W2738967955 @default.
- W4313244829 cites W2743317083 @default.
- W4313244829 cites W2766741391 @default.
- W4313244829 cites W2769101663 @default.
- W4313244829 cites W2777974055 @default.
- W4313244829 cites W2789665178 @default.
- W4313244829 cites W2800223861 @default.
- W4313244829 cites W2802207025 @default.
- W4313244829 cites W2806617686 @default.
- W4313244829 cites W2883753288 @default.
- W4313244829 cites W2897335860 @default.
- W4313244829 cites W2920632147 @default.