Ann-Charlotte Thuresson
- Mobile phone:
- +46 70 572 91 72
- E-mail:
- ann-charlotte.thuresson@igp.uu.se
- Visiting address:
- Dag Hammarskjölds väg 20
751 85 Uppsala - Postal address:
- Box 815
751 08 Uppsala
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Publications
Recent publications
- Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay (2024)
- OTX2 duplications (2023)
- A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3 (2021)
- Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder (2020)
- Proximal Deletion 12q with a New Insight to Growth Retardation (2020)
All publications
Articles
- Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay (2024)
- OTX2 duplications (2023)
- A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3 (2021)
- Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder (2020)
- Proximal Deletion 12q with a New Insight to Growth Retardation (2020)
- Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability (2019)
- De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants (2018)
- SLC35A2-related congenital disorder of glycosylation (2018)
- Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability (2018)
- Delineation of the critical region for proximal deletion of chromosome 12q (2017)
- Whole-gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development (2017)
- Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function (2017)
- Mutations in HECW2 are associated with intellectual disability and epilepsy (2016)
- 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency (2016)
- A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment (2016)
- Whole ARX Gene Duplication is Compatible With Normal Intellectual Development (2014)
- A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another (2014)
- Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature (2013)
- A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features (2013)
- Duplication 16p13.3 and the CREBBP gene (2013)
- Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism (2013)
- De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability (2012)
- Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures (2012)
- The 12q14 microdeletion syndrome (2011)
- Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype (2011)
- Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms (2011)
- Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11 (2011)
- Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay (2011)
- Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis (2010)
- The 12q14 microdeletion syndrome, 6 new cases confirming the role of HMGA2 in growth (2010)
- Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype (2010)
- A severe form of Noonan syndrome and autosomal dominant café-au-lait spots (2009)
- Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array (2008)
- Clinical variability of the 22q11.2 duplication syndrome (2008)
- MLGA--a rapid and cost-efficient assay for gene copy-number analysis (2007)
- Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients (2007)
- Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation (2007)
- Inhibition of poly(A) polymerase by aminoglycosides (2007)
- Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH (2006)
- A 54-kDa fragment of the Poly(A)-specific ribonuclease is an oligomeric, processive, and cap-interacting Poly(A)-specific 3' exonuclease. (2000)
- Multiple forms of poly(A) polymerases in human cells (1994)
- Beta 1 integrin-mediated collagen gel contraction is stimulated by PDGF (1990)
- Array-based comparative genome hybridisation for detection of gene copy number variation in autism
- Functional significance of multiple poly(A) polymerases
- Unbalanced de novo translocation in mother resulting in one child with a 6q13-q16 deletion and one child with a 6q13-q16 duplication
Books
