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Träfflista för sökning "WFRF:(Magnusson G) ;pers:(Magnusson M.)"

Sökning: WFRF:(Magnusson G) > Magnusson M.

  • Resultat 1-10 av 36
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1.
  • Walters, G. B., et al. (författare)
  • MAP1B mutations cause intellectual disability and extensive white matter deficit
  • 2018
  • Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 9:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Wholegenome sequencing of 31,463 Icelanders uncovers a frameshift variant (E712KfsTer10) in microtubule-associated protein 1B (MAP1B) that associates with ID/low IQ in a large pedigree (genome-wide corrected P = 0.022). Additional stop-gain variants in MAP1B (E1032Ter and R1664Ter) validate the association with ID and IQ. Carriers have 24% less white matter (WM) volume (beta = -2.1SD, P = 5.1 x 10(-8)), 47% less corpus callosum (CC) volume (beta = -2.4SD, P = 5.5 x 10(-10)) and lower brain-wide fractional anisotropy (P = 6.7 x 10(-4)). In summary, we show that loss of MAP1B function affects general cognitive ability through a profound, brain-wide WM deficit with likely disordered or compromised axons.
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2.
  • Boniver, R, et al. (författare)
  • Medico-legal in ORL
  • 1988
  • Ingår i: Acta Oto-Rhino-Laryngologica Belgica. - 0001-6497. ; 42:6, s. 722-771
  • Tidskriftsartikel (refereegranskat)
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3.
  • Barthelmie, R., Larsen, G., Bergström, H., Magnusson, M., Schlez,W., Rados, K., Lange, B., Vølund, P., Neckelmann, S., Christensen, L., Schepers, G., Hegberg, T., Folkerts, L. (författare)
  • ENDOW:Efficient Development of Offshore Windfarms.
  • 2002
  • Ingår i: Wind Engineering. ; 25:5, s. 263-270
  • Tidskriftsartikel (refereegranskat)
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4.
  • Hammarsjö, A., et al. (författare)
  • High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
  • 2021
  • Ingår i: Journal of Human Genetics. - : Springer Nature. - 1434-5161 .- 1435-232X. ; 66:10, s. 995-1008
  • Tidskriftsartikel (refereegranskat)abstract
    • Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins, are reported to cause skeletal ciliopathies. Here, we summarize genetic and phenotypic features of 34 affected individuals from 29 families with skeletal ciliopathies. Molecular diagnostic testing was performed using massively parallel sequencing (MPS) in combination with copy number variant (CNV) analyses and in silico filtering for variants in known skeletal ciliopathy genes. We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2. Four variants located in non-canonical splice sites of DYNC2H1, EVC, and KIAA0753 led to aberrant splicing that was shown by sequencing of cDNA. Furthermore, CNV analyses showed an intragenic deletion of DYNC2H1 in one individual and a 6.7 Mb de novo deletion on chromosome 1q24q25 in another. In five unsolved cases, MPS was performed in family setting. In one proband we identified a de novo variant in PRKACA and in another we found a homozygous intragenic deletion of IFT74, removing the first coding exon and leading to expression of a shorter message predicted to result in loss of 40 amino acids at the N-terminus. These findings establish IFT74 as a new skeletal ciliopathy gene. In conclusion, combined single nucleotide variant, CNV and cDNA analyses lead to a high yield of genetic diagnoses (90%) in a cohort of patients with skeletal ciliopathies.
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  • Resultat 1-10 av 36
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