Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Sign Up to like & getrecommendations! Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2016.211
Abstract: Purpose:To characterize features associated with de novo mutations affecting SATB2 function in individuals ascertained on the basis of intellectual disability.Methods:Twenty previously unreported individuals with 19 different SATB2 mutations (11 loss-of-function and 8 missense variants) were… read more here.
Keywords: protein; clinical molecular; missense variants; mobility ... See more keywords
Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity
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DOI: 10.1093/hmg/ddx355
Abstract: Bipolar disorder, schizophrenia, autism and intellectual disability are complex neurodevelopmental disorders, debilitating millions of people. Therapeutic progress is limited by poor understanding of underlying molecular pathways. Using a targeted search, we identified an enrichment of… read more here.
Keywords: rare sequence; novo mutations; trio; associated novo ... See more keywords
Radioiodine associated de novo Graves' opthalmopathy in an Asian cohort.
Sign Up to like & getrecommendations! Published in 2017 at "Hellenic journal of nuclear medicine"
DOI: 10.1967/s002449910606
Abstract: Radioactive iodine in the treatment of Graves' disease has been associated with the development of de novo Graves' ophthalmopathy (GO). In this report, we describe five individuals who required extensive ophthalmic treatment for post-RAI de… read more here.
Keywords: radioiodine associated; asian cohort; graves opthalmopathy; opthalmopathy asian ... See more keywords