Publications in DiVA – Ann-Charlotte Thuresson
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Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder
Part of RNA, p. 1654-1666, 2020.
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Proximal Deletion 12q with a New Insight to Growth Retardation
Part of Molecular Syndromology, p. 115-124, 2020.
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Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
Part of Clinical Genetics, p. 436-439, 2019.
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Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability
Part of American Journal of Medical Genetics Part B, p. 10-20, 2018.
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Delineation of the critical region for proximal deletion of chromosome 12q
Part of Molecular Cytogenetics, 2017.
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Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function
Part of Human Mutation, p. 1394-1401, 2017.
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1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency
Part of Genetics and Molecular Biology, p. 349-357, 2016.
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A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment
Part of Human Mutation, p. 964-975, 2016.
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Mutations in HECW2 are associated with intellectual disability and epilepsy
Part of Journal of Medical Genetics, p. 697-704, 2016.
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The 12q14 microdeletion syndrome, 6 new cases confirming the role of HMGA2 in growth
Part of Journal of Medical Genetics, p. S90-S90, 2010.
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Clinical variability of the 22q11.2 duplication syndrome
Part of European Journal of Medical Genetics, p. 501-510, 2008.
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Thuresson, Ann-Charlotte
Regulation of Mammalian Poly(A) Polymerase Activity
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Functional significance of multiple poly(A) polymerases: Modulation of a carboxyl terminally located regulatory region by alternative mRNA processing