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Ida Maria Westin
Kontakt
E-post
ida.maria.westin@umu.se
Telefon
Verksam vid
Anknytning
Anknuten som forskare till
Institutionen för diagnostik och intervention
Enhet: Onkologi
Plats
5A, Målpunkt H62, Norrlands universitetssjukhus
Umeå universitet, 901 85 Umeå
Anknytning
Anknuten som övrig/annan befattning till
Institutionen för medicinsk biovetenskap
Plats
By 6M, Sjukhusområdet
Umeå universitet, 901 85 Umeå
Publikationer
Publikationer
2024
CTG18.1 expansion in transcription factor 4 (TCF4) in corneal graft failure: preliminary study
Cell and Tissue Banking
, Springer Science+Business Media B.V. 2024, Vol. 25 : 613-618
Boström, Ida Maria; Viberg, Andreas; Golovleva, Irina; et al.
2023
DNA methylation changes and increased mRNA expression of coagulation proteins, factor V and thrombomodulin in Fuchs endothelial corneal dystrophy
Cellular and Molecular Life Sciences (CMLS)
, Springer 2023, Vol. 80, (3)
Westin, Ida Maria; Landfors, Mattias; Giannopoulos, Antonios; et al.
2022
TCF4
trinucleotide repeat expansion in Swedish cases with Fuchs’ endothelial corneal dystrophy
Acta Ophthalmologica
, John Wiley & Sons 2022, Vol. 100, (5) : 541-548
Viberg, Andreas; Westin, Ida Maria; Golovleva, Irina; et al.
2022
Genetics, epigenetics and functional mechanisms in inherited corneal and retinal dystrophies
Umeå University medical dissertations
, 2187
Westin, Ida Maria
2021
EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden
Scientific Reports
, Nature Publishing Group 2021, Vol. 11, (1)
Westin, Ida Maria; Jonsson, Frida; Österman, Lennart; et al.
2021
Lower fractions of TCF4 transcripts spanning over the CTG18.1 trinucleotide repeat in human corneal endothelium
Genes
, MDPI 2021, Vol. 12, (12)
Westin, Ida Maria; Viberg, Andreas; Byström, Berit; et al.
2018
Phenotypic expression of EYS mutations in patients with autosomal recessive retinitis pigmentosa in northern Sweden
Investigative Ophthalmology and Visual Science
, The Association for Research in Vision and Ophthalmology, Inc. 2018, Vol. 59, (9)
Burstedt, Marie; Jonsson, Frida; Westin, Ida Maria; et al.
2018
ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A > G and c.5461-10T > C cause Stargardt disease due to defective splicing
Acta Ophthalmologica
, John Wiley & Sons 2018, Vol. 96, (7) : 737-743
Jonsson, Frida; Westin, Ida Maria; Österman, Lennart; et al.
2017
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.
2016
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.
2012
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.
2012
Mutation analysis of cases of sudden unexplained death, 15 years after death: Prompt genetic evaluation after resuscitation can save future lives
Resuscitation
, Vol. 83, (10) : 1229-1234
Wisten, Aase; Boström, Ida Maria; Mörner, Stellan; et al.
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