Norberg A - Search Results

1

Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.

Norberg A, Rosén A, Raaschou-Jensen K, Kjeldsen L, Moilanen JS, Paulsson-Karlsson Y, Baliakas P, Lohi O, Ahmed A, Kittang AO, Larsson P, Roos G, Degerman S, Hultdin M. Norberg A, et al. Eur J Hum Genet. 2018 Jun;26(6):858-867. doi: 10.1038/s41431-018-0112-8. Epub 2018 Feb 26. Eur J Hum Genet. 2018. PMID: 29483670 Free PMC article.

2

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Stattin EL, Boström IM, Winbo A, Cederquist K, Jonasson J, Jonsson BA, Diamant UB, Jensen SM, Rydberg A, Norberg A. Stattin EL, et al. Among authors: norberg a. BMC Cardiovasc Disord. 2012 Oct 25;12:95. doi: 10.1186/1471-2261-12-95. BMC Cardiovasc Disord. 2012. PMID: 23098067 Free PMC article.

3

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.

Jonsson F, Burstedt MS, Sandgren O, Norberg A, Golovleva I. Jonsson F, et al. Among authors: norberg a. Eur J Hum Genet. 2013 Nov;21(11):1266-71. doi: 10.1038/ejhg.2013.23. Epub 2013 Feb 27. Eur J Hum Genet. 2013. PMID: 23443024 Free PMC article.

4

A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome.

Ueda Y, Calado RT, Norberg A, Kajigaya S, Roos G, Hellstrom-Lindberg E, Young NS. Ueda Y, et al. Among authors: norberg a. BMC Med Genet. 2014 Jun 19;15:68. doi: 10.1186/1471-2350-15-68. BMC Med Genet. 2014. PMID: 24948335 Free PMC article.

5

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.

Trotta L, Norberg A, Taskinen M, Béziat V, Degerman S, Wartiovaara-Kautto U, Välimaa H, Jahnukainen K, Casanova JL, Seppänen M, Saarela J, Koskenvuo M, Martelius T. Trotta L, et al. Among authors: norberg a. Orphanet J Rare Dis. 2018 Aug 17;13(1):139. doi: 10.1186/s13023-018-0864-9. Orphanet J Rare Dis. 2018. PMID: 30115091 Free PMC article.

6

Characterization of an X-chromosome-linked telomere biology disorder in females with DKC1 mutation.

Hirvonen EAM, Peuhkuri S, Norberg A, Degerman S, Hannula-Jouppi K, Välimaa H, Kilpivaara O, Wartiovaara-Kautto U. Hirvonen EAM, et al. Among authors: norberg a. Leukemia. 2019 Jan;33(1):275-278. doi: 10.1038/s41375-018-0243-5. Epub 2018 Sep 5. Leukemia. 2019. PMID: 30185935 No abstract available.

7

DNA methylation variations and epigenetic aging in telomere biology disorders.

Carlund O, Norberg A, Osterman P, Landfors M, Degerman S, Hultdin M. Carlund O, et al. Among authors: norberg a. Sci Rep. 2023 May 16;13(1):7955. doi: 10.1038/s41598-023-34922-1. Sci Rep. 2023. PMID: 37193737 Free PMC article.

8

Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity.

Maliński B, Vertemara J, Faustini E, Ladenvall C, Norberg A, Zhang Y, von Castelmur E, Baliakas P, Tisi R, Cammenga J, Lottersberger F. Maliński B, et al. Among authors: norberg a. Hum Mol Genet. 2023 Sep 16;32(19):2901-2912. doi: 10.1093/hmg/ddad114. Hum Mol Genet. 2023. PMID: 37440454 Free PMC article.

9

Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome.

Bergstrand S, Böhm S, Malmgren H, Norberg A, Sundin M, Nordgren A, Farnebo M. Bergstrand S, et al. Among authors: norberg a. Cell Death Dis. 2020 Apr 17;11(4):238. doi: 10.1038/s41419-020-2421-4. Cell Death Dis. 2020. PMID: 32303682 Free PMC article.

10

Genetic screening in sudden cardiac death in the young can save future lives.

Stattin EL, Westin IM, Cederquist K, Jonasson J, Jonsson BA, Mörner S, Norberg A, Krantz P, Wisten A. Stattin EL, et al. Among authors: norberg a. Int J Legal Med. 2016 Jan;130(1):59-66. doi: 10.1007/s00414-015-1237-8. Epub 2015 Jul 31. Int J Legal Med. 2016. PMID: 26228265 Free PMC article.

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