FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2138922995> ?p ?o ?g. }

• W2138922995 endingPage "768" @default.
• W2138922995 startingPage "760" @default.
• W2138922995 abstract "<h3>Background</h3> Silver–Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry. Maternal uniparental disomy (mUPD) of chromosome 7 and hypomethylation of the imprinting control region (ICR) 1 on chromosome 11p15 are found in 5–10% and up to 60% of patients with SRS, respectively. As many features are non-specific, diagnosis of SRS remains difficult. Studies of patients in whom the molecular diagnosis is confirmed therefore provide valuable clinical information on the condition. <h3>Methods</h3> A detailed, prospective study of 64 patients with mUPD7 (n=20) or ICR1 hypomethylation (n=44) was undertaken. <h3>Results and conclusions</h3> The considerable overlap in clinical phenotype makes it difficult to distinguish these two molecular subgroups reliably. ICR1 hypomethylation was more likely to be scored as ‘classical’ SRS. Asymmetry, fifth finger clinodactyly and congenital anomalies were more commonly seen with ICR1 hypomethylation, whereas learning difficulties and referral for speech therapy were more likely with mUPD7. Myoclonus-dystonia has been reported previously in one mUPD7 patient. The authors report mild movement disorders in three further cases. No correlation was found between clinical severity and level of ICR1 hypomethylation. Use of assisted reproductive technology in association with ICR1 hypomethylation seems increased compared with the general population. ICR1 hypomethylation was also observed in affected siblings, although recurrence risk remains low in the majority of cases. Overall, a wide range of severity was observed, particularly with ICR1 hypomethylation. A low threshold for investigation of patients with features suggestive, but not typical, of SRS is therefore recommended." @default.
• W2138922995 created "2016-06-24" @default.
• W2138922995 creator A5004284273 @default.
• W2138922995 creator A5008772405 @default.
• W2138922995 creator A5010920917 @default.
• W2138922995 creator A5012043020 @default.
• W2138922995 creator A5012217651 @default.
• W2138922995 creator A5021268253 @default.
• W2138922995 creator A5032780856 @default.
• W2138922995 creator A5033933023 @default.
• W2138922995 creator A5034061594 @default.
• W2138922995 creator A5037440064 @default.
• W2138922995 creator A5041956394 @default.
• W2138922995 creator A5047297344 @default.
• W2138922995 creator A5047800614 @default.
• W2138922995 creator A5053520042 @default.
• W2138922995 creator A5056034710 @default.
• W2138922995 creator A5060421722 @default.
• W2138922995 creator A5065965042 @default.
• W2138922995 creator A5082481038 @default.
• W2138922995 creator A5082973474 @default.
• W2138922995 date "2010-08-03" @default.
• W2138922995 modified "2023-10-08" @default.
• W2138922995 title "Epigenotype-phenotype correlations in Silver-Russell syndrome" @default.
• W2138922995 cites W155481001 @default.
• W2138922995 cites W1772199497 @default.
• W2138922995 cites W1969245300 @default.
• W2138922995 cites W1981857936 @default.
• W2138922995 cites W1982021752 @default.
• W2138922995 cites W1990519487 @default.
• W2138922995 cites W1995711127 @default.
• W2138922995 cites W1995819143 @default.
• W2138922995 cites W2015180872 @default.
• W2138922995 cites W2028652214 @default.
• W2138922995 cites W2036369753 @default.
• W2138922995 cites W2060544523 @default.
• W2138922995 cites W2062234174 @default.
• W2138922995 cites W2063091345 @default.
• W2138922995 cites W2067450921 @default.
• W2138922995 cites W2070257539 @default.
• W2138922995 cites W2071439540 @default.
• W2138922995 cites W2081360205 @default.
• W2138922995 cites W2083446392 @default.
• W2138922995 cites W2088943598 @default.
• W2138922995 cites W2102749853 @default.
• W2138922995 cites W2106622649 @default.
• W2138922995 cites W2110371386 @default.
• W2138922995 cites W2112580847 @default.
• W2138922995 cites W2117988032 @default.
• W2138922995 cites W2129908510 @default.
• W2138922995 cites W2130235900 @default.
• W2138922995 cites W2133879173 @default.
• W2138922995 cites W2134378595 @default.
• W2138922995 cites W2140492946 @default.
• W2138922995 cites W2142787855 @default.
• W2138922995 cites W2151099844 @default.
• W2138922995 cites W2161557907 @default.
• W2138922995 cites W2162098357 @default.
• W2138922995 cites W2167151107 @default.
• W2138922995 cites W2167537810 @default.
• W2138922995 cites W2171322222 @default.
• W2138922995 cites W2267668114 @default.
• W2138922995 cites W3213675744 @default.
• W2138922995 doi "https://doi.org/10.1136/jmg.2010.079111" @default.
• W2138922995 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2976034" @default.
• W2138922995 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20685669" @default.
• W2138922995 hasPublicationYear "2010" @default.
• W2138922995 type Work @default.
• W2138922995 sameAs 2138922995 @default.
• W2138922995 citedByCount "119" @default.
• W2138922995 countsByYear W21389229952012 @default.
• W2138922995 countsByYear W21389229952013 @default.
• W2138922995 countsByYear W21389229952014 @default.
• W2138922995 countsByYear W21389229952015 @default.
• W2138922995 countsByYear W21389229952016 @default.
• W2138922995 countsByYear W21389229952017 @default.
• W2138922995 countsByYear W21389229952018 @default.
• W2138922995 countsByYear W21389229952019 @default.
• W2138922995 countsByYear W21389229952020 @default.
• W2138922995 countsByYear W21389229952021 @default.
• W2138922995 countsByYear W21389229952022 @default.
• W2138922995 countsByYear W21389229952023 @default.
• W2138922995 crossrefType "journal-article" @default.
• W2138922995 hasAuthorship W2138922995A5004284273 @default.
• W2138922995 hasAuthorship W2138922995A5008772405 @default.
• W2138922995 hasAuthorship W2138922995A5010920917 @default.
• W2138922995 hasAuthorship W2138922995A5012043020 @default.
• W2138922995 hasAuthorship W2138922995A5012217651 @default.
• W2138922995 hasAuthorship W2138922995A5021268253 @default.
• W2138922995 hasAuthorship W2138922995A5032780856 @default.
• W2138922995 hasAuthorship W2138922995A5033933023 @default.
• W2138922995 hasAuthorship W2138922995A5034061594 @default.
• W2138922995 hasAuthorship W2138922995A5037440064 @default.
• W2138922995 hasAuthorship W2138922995A5041956394 @default.
• W2138922995 hasAuthorship W2138922995A5047297344 @default.
• W2138922995 hasAuthorship W2138922995A5047800614 @default.
• W2138922995 hasAuthorship W2138922995A5053520042 @default.
• W2138922995 hasAuthorship W2138922995A5056034710 @default.

• next