Matches in SemOpenAlex for { <https://semopenalex.org/work/W2117133083> ?p ?o ?g. }
- W2117133083 endingPage "93" @default.
- W2117133083 startingPage "82" @default.
- W2117133083 abstract "Usher syndrome is both genetically and phenotypically heterogeneous. Traditionally, the condition has been classified into three clinical types, differentiated by the severity and progression of the hearing impairment and by the presence or absence of vestibular symptoms. Recent advances in molecular genetics have enabled researchers to study the phenotypic expression in confirmed molecular groups of Usher. In response to the expansion of clinical and genetic information on Usher, we report an up to date review of the different clinical forms of Usher in known molecular groups and use the emerging evidence to appraise the diagnostic utility of the traditional classification of Usher. Our findings undermine the traditional view that the clinical types of Usher have distinct genetic causes. The pleiotropic effects of some of the major causes of Usher lead to considerable overlap between the different clinical types, with very little evidence for phenotypic-genotypic correlations. The novel synthesis emerging from this review suggests more productive approaches to the diagnosis of Usher in hearing-impaired children which would provide more accurate prognostic information to families." @default.
- W2117133083 created "2016-06-24" @default.
- W2117133083 creator A5017877515 @default.
- W2117133083 creator A5050569629 @default.
- W2117133083 creator A5064079699 @default.
- W2117133083 date "2007-01-01" @default.
- W2117133083 modified "2023-09-24" @default.
- W2117133083 title "The changing face of Usher syndrome: Clinical implications" @default.
- W2117133083 cites W1485164622 @default.
- W2117133083 cites W1606900855 @default.
- W2117133083 cites W1667680871 @default.
- W2117133083 cites W1786905367 @default.
- W2117133083 cites W1824174257 @default.
- W2117133083 cites W1829987066 @default.
- W2117133083 cites W1916825548 @default.
- W2117133083 cites W1935705465 @default.
- W2117133083 cites W1965214236 @default.
- W2117133083 cites W1968397766 @default.
- W2117133083 cites W1971006008 @default.
- W2117133083 cites W1973324997 @default.
- W2117133083 cites W1973662578 @default.
- W2117133083 cites W1976935438 @default.
- W2117133083 cites W1978708533 @default.
- W2117133083 cites W1978790584 @default.
- W2117133083 cites W1979325114 @default.
- W2117133083 cites W1983689913 @default.
- W2117133083 cites W1984225507 @default.
- W2117133083 cites W1984425391 @default.
- W2117133083 cites W1986625795 @default.
- W2117133083 cites W1990087177 @default.
- W2117133083 cites W1991086735 @default.
- W2117133083 cites W1993509733 @default.
- W2117133083 cites W1994729397 @default.
- W2117133083 cites W1995773545 @default.
- W2117133083 cites W1996702954 @default.
- W2117133083 cites W2001036987 @default.
- W2117133083 cites W2001228952 @default.
- W2117133083 cites W2006354120 @default.
- W2117133083 cites W2010942567 @default.
- W2117133083 cites W2015373896 @default.
- W2117133083 cites W2016799666 @default.
- W2117133083 cites W2017685224 @default.
- W2117133083 cites W2019832339 @default.
- W2117133083 cites W2030841848 @default.
- W2117133083 cites W2031814390 @default.
- W2117133083 cites W2032437173 @default.
- W2117133083 cites W2038502254 @default.
- W2117133083 cites W2039526887 @default.
- W2117133083 cites W2042841173 @default.
- W2117133083 cites W2044000602 @default.
- W2117133083 cites W2045454401 @default.
- W2117133083 cites W2053537180 @default.
- W2117133083 cites W2054753981 @default.
- W2117133083 cites W2056733048 @default.
- W2117133083 cites W2057455446 @default.
- W2117133083 cites W2064230515 @default.
- W2117133083 cites W2065075353 @default.
- W2117133083 cites W2068897365 @default.
- W2117133083 cites W2070860055 @default.
- W2117133083 cites W2071708657 @default.
- W2117133083 cites W2074435689 @default.
- W2117133083 cites W2078812671 @default.
- W2117133083 cites W2083999383 @default.
- W2117133083 cites W2084438961 @default.
- W2117133083 cites W2086402519 @default.
- W2117133083 cites W2087070369 @default.
- W2117133083 cites W2087929831 @default.
- W2117133083 cites W2091796111 @default.
- W2117133083 cites W2092670526 @default.
- W2117133083 cites W2092765337 @default.
- W2117133083 cites W2096388240 @default.
- W2117133083 cites W2104439330 @default.
- W2117133083 cites W2104453327 @default.
- W2117133083 cites W2108187583 @default.
- W2117133083 cites W2109333560 @default.
- W2117133083 cites W2114260999 @default.
- W2117133083 cites W2117976440 @default.
- W2117133083 cites W2118321898 @default.
- W2117133083 cites W2132491644 @default.
- W2117133083 cites W2135909199 @default.
- W2117133083 cites W2137122999 @default.
- W2117133083 cites W2137691641 @default.
- W2117133083 cites W2140202756 @default.
- W2117133083 cites W2140735354 @default.
- W2117133083 cites W2141571647 @default.
- W2117133083 cites W2141991906 @default.
- W2117133083 cites W2142154935 @default.
- W2117133083 cites W2149253950 @default.
- W2117133083 cites W2150741372 @default.
- W2117133083 cites W2151604976 @default.
- W2117133083 cites W2154886338 @default.
- W2117133083 cites W2154960684 @default.
- W2117133083 cites W2156966330 @default.
- W2117133083 cites W2162672934 @default.
- W2117133083 cites W2166018081 @default.
- W2117133083 cites W2167274706 @default.
- W2117133083 cites W2168019567 @default.
- W2117133083 cites W2313345084 @default.