Anna Norberg

Sjukhusgenetiker vid klinisk genetik, Norrlands universitetssjukhus.

Kontakt

anna.k.norberg@umu.se

Verksam vid

Anknuten som övrig/annan befattning till Institutionen för medicinsk biovetenskap Enhet: Patologi, Medicinsk och klinisk genetik

By 6M, Sjukhusområdet Umeå universitet, 901 85 Umeå

Publikationer Publikationer

DNA methylation variations and epigenetic aging in telomere biology disorders

Scientific Reports, Springer Nature 2023, Vol. 13, (1)

Carlund, Olivia; Norberg, Anna; Osterman, Pia; et al.

Genetic subtypes and outcome of patients aged 1 to 45 years old with acute lymphoblastic leukemia in the NOPHO ALL2008 trial

HemaSphere, Wolters Kluwer 2023, Vol. 7, (5)

Norén-Nyström, Ulrika; Andersen, Mette K.; Barbany, Gisela; et al.

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

Cell Death and Disease, Nature Publishing Group 2020, Vol. 11, (4)

Bergstrand, Sofie; Böhm, Stefanie; Malmgren, Helena; et al.

Frequent false-negative FIP1L1-PDGFRA FISH analyses of bone marrow samples from clonal eosinophilia at diagnosis

British Journal of Haematology, John Wiley & Sons 2020, Vol. 188, (5) : e64-e79

Olsson-Arvidsson, Linda; Norberg, Anna; Sjögren, Helene; et al.

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

Leukemia, Nature Publishing Group 2019, Vol. 33, (1) : 275-278

Hirvonen, Elina A. M.; Peuhkuri, Saara; Norberg, Anna; et al.

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

European Journal of Human Genetics, Nature Publishing Group 2018, Vol. 26, (6) : 858-867

Norberg, Anna; Rosén, Anna; Raaschou-Jensen, Klas; et al.

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

Orphanet Journal of Rare Diseases, BioMed Central (BMC) 2018, Vol. 13

Trotta, Luca; Norberg, Anna; Taskinen, Mervi; et al.

Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis

BMC Medical Genetics, Vol. 18

Winbo, Annika; Stattin, Eva-Lena; Westin, Ida Maria; et al.

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

International journal of legal medicine, Vol. 130, (1) : 59-66

Stattin, Eva-Lena; Westin, Ida Maria; Cederquist, Kristina; et al.

Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes

Retinal Degenerative Diseases: Mechanisms and Experimental Therapy, Springer Berlin/Heidelberg 2014 : 177-183

Jonsson, Frida; Burstedt, Marie S; Sandgren, Ola; et al.

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

BMC Medical Genetics, Vol. 15 : 68-

Ueda, Yasutaka; Calado, Rodrigo T.; Norberg, Anna; et al.

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

European Journal of Human Genetics, Nature Publishing Group 2013, Vol. 21, (11) : 1266-1271

Jonsson, Frida; Burstedt, Marie S; Sandgren, Ola; et al.

Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23

Blood, Washington: American Society of Hematology 2013, Vol. 121, (23) : 4791-4799

Liljeholm, Maria; Irvine, Andrew F; Vikberg, Ann-Louise; et al.

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

BMC Cardiovascular Disorders, BioMed Central 2012, Vol. 12 : 95-

Stattin, Eva-Lena; Boström, Ida Maria; Winbo, Annika; et al.

Nerve growth factor R221W responsible for insensitivity to pain is defectively processed and accumulates as proNGF

Neurobiology of Disease, San Diego: Academic P. 2009, Vol. 33, (2) : 221-228

Larsson, Elin; Kuma, Regina; Norberg, Anna; et al.

Functional analysis of telomerase activity in T-lymphocytes as a diagnostic tool for pathogenicity assessment of novel genetic variants in telomere biology disorders

Carlund, Olivia; Norberg, Anna; Osterman, Pia; et al.

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