FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2166366700> ?p ?o ?g. }

• W2166366700 endingPage "638" @default.
• W2166366700 startingPage "625" @default.
• W2166366700 abstract "Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features resulting from such duplications are various, though they often include intellectual disability, microcephaly, short stature, hypotonia, hypogonadism and feeding difficulties. Female carriers are often phenotypically normal or show a similar but milder phenotype, as in most cases the X-chromosome harbouring the duplication is subject to inactivation. Xq28, which includes MECP2 is the major locus for submicroscopic X-chromosome duplications, whereas duplications in Xq25 and Xq26 have been reported in only a few cases. Using genome-wide array platforms we identified overlapping interstitial Xq25q26 duplications ranging from 0.2 to 4.76 Mb in eight unrelated families with in total five affected males and seven affected females. All affected males shared a common phenotype with intrauterine- and postnatal growth retardation and feeding difficulties in childhood. Three had microcephaly and two out of five suffered from epilepsy. In addition, three males had a distinct facial appearance with congenital bilateral ptosis and large protruding ears and two of them showed a cleft palate. The affected females had various clinical symptoms similar to that of the males with congenital bilateral ptosis in three families as most remarkable feature. Comparison of the gene content of the individual duplications with the respective phenotypes suggested three critical regions with candidate genes (AIFM1, RAB33A, GPC3 and IGSF1) for the common phenotypes, including candidate loci for congenital bilateral ptosis, small head circumference, short stature, genital and digital defects." @default.
• W2166366700 created "2016-06-24" @default.
• W2166366700 creator A5001473959 @default.
• W2166366700 creator A5001962694 @default.
• W2166366700 creator A5005316724 @default.
• W2166366700 creator A5006867147 @default.
• W2166366700 creator A5010530881 @default.
• W2166366700 creator A5015361582 @default.
• W2166366700 creator A5016927029 @default.
• W2166366700 creator A5020782478 @default.
• W2166366700 creator A5022357832 @default.
• W2166366700 creator A5026835785 @default.
• W2166366700 creator A5033695524 @default.
• W2166366700 creator A5035260537 @default.
• W2166366700 creator A5037624373 @default.
• W2166366700 creator A5040205730 @default.
• W2166366700 creator A5041429809 @default.
• W2166366700 creator A5043626906 @default.
• W2166366700 creator A5043653516 @default.
• W2166366700 creator A5044578719 @default.
• W2166366700 creator A5053250638 @default.
• W2166366700 creator A5064807789 @default.
• W2166366700 creator A5064965388 @default.
• W2166366700 creator A5067863333 @default.
• W2166366700 creator A5070229605 @default.
• W2166366700 creator A5071894755 @default.
• W2166366700 creator A5071926823 @default.
• W2166366700 creator A5072912999 @default.
• W2166366700 creator A5073743826 @default.
• W2166366700 creator A5074735579 @default.
• W2166366700 creator A5075495545 @default.
• W2166366700 creator A5091740728 @default.
• W2166366700 creator A5091808177 @default.
• W2166366700 date "2013-12-11" @default.
• W2166366700 modified "2023-10-10" @default.
• W2166366700 title "X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome" @default.
• W2166366700 cites W1964159332 @default.
• W2166366700 cites W1984448861 @default.
• W2166366700 cites W1990251817 @default.
• W2166366700 cites W1994128974 @default.
• W2166366700 cites W1996409895 @default.
• W2166366700 cites W1999355802 @default.
• W2166366700 cites W1999365156 @default.
• W2166366700 cites W2002975374 @default.
• W2166366700 cites W2011264089 @default.
• W2166366700 cites W2022152645 @default.
• W2166366700 cites W2022940702 @default.
• W2166366700 cites W2030198831 @default.
• W2166366700 cites W2032413974 @default.
• W2166366700 cites W2035585440 @default.
• W2166366700 cites W2037612957 @default.
• W2166366700 cites W2050895091 @default.
• W2166366700 cites W2056621404 @default.
• W2166366700 cites W2064111855 @default.
• W2166366700 cites W2064308078 @default.
• W2166366700 cites W2068299255 @default.
• W2166366700 cites W2073667684 @default.
• W2166366700 cites W2080770220 @default.
• W2166366700 cites W2105815383 @default.
• W2166366700 cites W2106360880 @default.
• W2166366700 cites W2111781019 @default.
• W2166366700 cites W2124874299 @default.
• W2166366700 cites W2126770998 @default.
• W2166366700 cites W2132322753 @default.
• W2166366700 cites W2141192645 @default.
• W2166366700 cites W2144331604 @default.
• W2166366700 cites W2154079531 @default.
• W2166366700 cites W2155978280 @default.
• W2166366700 cites W2168893192 @default.
• W2166366700 cites W4297745080 @default.
• W2166366700 doi "https://doi.org/10.1007/s00439-013-1403-3" @default.
• W2166366700 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24326587" @default.
• W2166366700 hasPublicationYear "2013" @default.
• W2166366700 type Work @default.
• W2166366700 sameAs 2166366700 @default.
• W2166366700 citedByCount "16" @default.
• W2166366700 countsByYear W21663667002014 @default.
• W2166366700 countsByYear W21663667002017 @default.
• W2166366700 countsByYear W21663667002018 @default.
• W2166366700 countsByYear W21663667002020 @default.
• W2166366700 countsByYear W21663667002021 @default.
• W2166366700 countsByYear W21663667002022 @default.
• W2166366700 crossrefType "journal-article" @default.
• W2166366700 hasAuthorship W2166366700A5001473959 @default.
• W2166366700 hasAuthorship W2166366700A5001962694 @default.
• W2166366700 hasAuthorship W2166366700A5005316724 @default.
• W2166366700 hasAuthorship W2166366700A5006867147 @default.
• W2166366700 hasAuthorship W2166366700A5010530881 @default.
• W2166366700 hasAuthorship W2166366700A5015361582 @default.
• W2166366700 hasAuthorship W2166366700A5016927029 @default.
• W2166366700 hasAuthorship W2166366700A5020782478 @default.
• W2166366700 hasAuthorship W2166366700A5022357832 @default.
• W2166366700 hasAuthorship W2166366700A5026835785 @default.
• W2166366700 hasAuthorship W2166366700A5033695524 @default.
• W2166366700 hasAuthorship W2166366700A5035260537 @default.
• W2166366700 hasAuthorship W2166366700A5037624373 @default.
• W2166366700 hasAuthorship W2166366700A5040205730 @default.
• W2166366700 hasAuthorship W2166366700A5041429809 @default.

• next