Publications in DiVA – Ann-Charlotte Thuresson
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OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
Part of Journal of Medical Genetics, p. 620-626, 2023.
DOI for OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
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A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
Part of Clinical Genetics, p. 325-329, 2021.
DOI for A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3 Download full text (pdf) of A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
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Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder
Part of RNA, p. 1654-1666, 2020.
DOI for Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder Download full text (pdf) of Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder
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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.
DOI for Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability Download full text (pdf) of Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
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De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants
Part of American Journal of Medical Genetics. Part A, p. 1748-1752, 2018.
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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.
DOI for Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability Download full text (pdf) of Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability
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SLC35A2-related congenital disorder of glycosylation: Defining the phenotype
Part of European journal of paediatric neurology, p. 1095-1102, 2018.
DOI for SLC35A2-related congenital disorder of glycosylation: Defining the phenotype
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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.
DOI for Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function Download full text (pdf) of Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function
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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.
DOI for 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency Download full text (pdf) of 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency
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Mutations in HECW2 are associated with intellectual disability and epilepsy
Part of Journal of Medical Genetics, p. 697-704, 2016.
DOI for Mutations in HECW2 are associated with intellectual disability and epilepsy Download full text (pdf) of Mutations in HECW2 are associated with intellectual disability and epilepsy
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A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another
Part of European Journal of Medical Genetics, p. 259-263, 2014.
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Whole ARX Gene Duplication is Compatible With Normal Intellectual Development
Part of American Journal of Medical Genetics. Part A, p. 2324-2327, 2014.
DOI for Whole ARX Gene Duplication is Compatible With Normal Intellectual Development
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A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features
Part of European Journal of Medical Genetics, p. 163-170, 2013.
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Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype
Part of European Journal of Medical Genetics, p. 26-31, 2013.
DOI for Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype
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Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism
Part of European Journal of Medical Genetics, p. 420-425, 2013.
DOI for Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism
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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
Part of American Journal of Medical Genetics Part B, p. 388-403, 2013.
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De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability: further delineation of the 6q14 microdeletion syndrome and review of the literature
Part of European Journal of Medical Genetics, p. 490-497, 2012.
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Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
Part of American Journal of Medical Genetics. Part A, p. 1633-1640, 2012.
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Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype
Part of American Journal of Human Genetics, p. 295-301, 2011.
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Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11
Part of European Journal of Human Genetics, p. 959-964, 2011.
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Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms
Part of Neurogenetics, p. 65-72, 2011.
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The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth
Part of European Journal of Human Genetics, p. 534-539, 2011.
DOI for The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth
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Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1
Part of European Journal of Medical Genetics, p. 189-193, 2011.
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Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis
Part of European Journal of Medical Genetics, p. 117-121, 2010.
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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.
DOI for Clinical variability of the 22q11.2 duplication syndrome Download full text (pdf) of Clinical variability of the 22q11.2 duplication syndrome
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Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array
Part of Human Mutation, p. 398-408, 2008.
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Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
Part of European Journal of Human Genetics, p. 143-149, 2007.
DOI for Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
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Inhibition of poly(A) polymerase by aminoglycosides
Part of Biochimie, p. 1221-1227, 2007.
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MLGA--a rapid and cost-efficient assay for gene copy-number analysis
Part of Nucleic Acids Research, p. e115-, 2007.
DOI for MLGA--a rapid and cost-efficient assay for gene copy-number analysis
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Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH
Part of Journal of Medical Genetics, p. 28-38, 2006.
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A 54-kDa fragment of the Poly(A)-specific ribonuclease is an oligomeric, processive, and cap-interacting Poly(A)-specific 3' exonuclease.
Part of Journal of Biological Chemistry, p. 24222-24230, 2000.
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Multiple forms of poly(A) polymerases in human cells
Part of Proceedings of the National Academy of Sciences of the United States of America, p. 979-983, 1994.
DOI for Multiple forms of poly(A) polymerases in human cells
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Beta 1 integrin-mediated collagen gel contraction is stimulated by PDGF
Part of Experimental Cell Research, p. 264-272, 1990.
DOI for Beta 1 integrin-mediated collagen gel contraction is stimulated by PDGF