about
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.Mutations in HECW2 are associated with intellectual disability and epilepsyClinical variability of the 22q11.2 duplication syndrome.Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.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.Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment.Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another.Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.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.Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizuresInhibition of poly(A) polymerase by aminoglycosidesGenomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptomsWhole ARX gene duplication is compatible with normal intellectual developmentWhole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual developmentWhole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disabilityDe novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variantsSLC35A2-related congenital disorder of glycosylation: Defining the phenotype
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description
researcher ORCID ID = 0000-0002-4018-5551
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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Ann-Charlotte Thuresson
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P106
P1153
6507566511
P21
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0000-0002-4018-5551