Sofia Thunström
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View article: Structural Variants in <scp><i>COL1A1</i></scp> and <scp><i>COL1A2</i></scp> in Osteogenesis Imperfecta
Structural Variants in <span><i>COL1A1</i></span> and <span><i>COL1A2</i></span> in Osteogenesis Imperfecta Open
Osteogenesis Imperfecta (OI) is a heterogeneous skeletal dysplasia characterized by bone fragility, skeletal deformities, and short stature. Most commonly, it is caused by autosomal dominant variants in the type I collagen genes, COL1A1 or…
View article: A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities Open
Clinical genetic laboratories often require a comprehensive analysis of chromosomal rearrangements/structural variants (SVs), from large events like translocations and inversions to supernumerary ring/marker chromosomes and small deletions…
View article: Genomic and biological panoramas of non-muscle actinopathies
Genomic and biological panoramas of non-muscle actinopathies Open
Background Cytoskeletal non-muscle actin isoforms are the most abundant intracellular proteins and extensively interact with other molecules. Biological consequences and genotype-phenotype correlations of the variants in genes encoding the…
View article: Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements
Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements Open
Background: Clinical genetic laboratories often require comprehensive analysis of chromosomal rearrangements/structural variants (SVs) which can range from gross chromosomal events, such as translocations and inversions, to supernumerary r…
View article: Psychiatric disorders and comorbidity in women with Turner Syndrome: a retrospective cohort study
Psychiatric disorders and comorbidity in women with Turner Syndrome: a retrospective cohort study Open
Turner syndrome (TS) is a genetic condition characterized by partial or complete monosomy X. A reduced life expectancy has been shown in TS, depending on an increased risk of aortic dissection, and ischemic heart disease. Studies covering …
View article: Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years’ Controlled Follow-up Study
Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years’ Controlled Follow-up Study Open
Context Turner syndrome (TS) is the most common chromosomal aberration in women; it is the result of structural or numeric abnormalities in the X chromosome. Autoimmune hypothyroidism has been recognized as one of the more prominent disord…
View article: Dravet syndrome in children—A population-based study
Dravet syndrome in children—A population-based study Open
A SCN1A variant that could explain the syndrome was found in over 90% of children. Tonic seizures seem to be more frequent than earlier described. Median age at diagnosis was lower, cumulative incidence higher and use of contra-indicated s…
View article: Use of the cell division assay to diagnose <scp>Fanconi</scp> anemia patients' hypersensitivity to mitomycin <scp>C</scp>
Use of the cell division assay to diagnose <span>Fanconi</span> anemia patients' hypersensitivity to mitomycin <span>C</span> Open
The recently reported cell division assay (CDA) was optimized to measure the relative sensitivity of cells to cytotoxic drugs in vitro. Here, we investigated the in vitro hypersensitivity of lymphocytes from Fanconi anemia (FA) patients, t…
View article: Side differences in the degree of mosaicism of the buccal mucosa in Turner syndrome
Side differences in the degree of mosaicism of the buccal mucosa in Turner syndrome Open
Background The aim was to investigate if there were any differences in the degree of mosaicism between the left‐ and right‐hand sides of the buccal mucosa in women with Turner syndrome. Methods Buccal smears were taken on the left‐ and rig…