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Umeå universitet
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Huvudmenyn dold.

Frida Jonsson

Kontakt

E-post
frida.m.jonsson@umu.se
Telefon

Verksam vid

Anknytning
Anknuten som övrig/annan befattning till Institutionen för medicinsk biovetenskap Enhet: Medicinsk och klinisk genetik
Plats
By 6M, Sjukhusområdet Umeå universitet, 901 85 Umeå
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.
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.
Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in MERTK causing severe retinitis pigmentosa
Molecular Vision, Vol. 24 : 667-678
Jonsson, Frida; Burstedt, Marie; Kellgren, Therese; et al.
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.
Underlying genetic mechanisms of hereditary dystrophies in retina and cornea
Umeå University medical dissertations, 1872
Frida, Jonsson
Heterogeneity and complexity of EYS mutations in autosomal recessive retinitis pigmentosa in northern Sweden
Investigative Ophthalmology and Visual Science, ASSOC RESEARCH VISION OPHTHALMOLOGY INC 2016, Vol. 57, (12)
Golovleva, Irina; Jonsson, Frida; Burstedt, Marie
Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED)
Human Mutation, John Wiley & Sons 2015, Vol. 36, (4) : 463-473
Jonsson, Frida; Byström, Berit; Davidson, Alice E.; 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.
Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations
Acta Ophthalmologica, Vol. 91, (5) : 437-444
Burstedt, Marie; Jonsson, Frida; Köhn, Linda; 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.
Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1
Investigative Ophthalmology and Visual Science, Association for Research in Vision and Ophthalmology 2008, Vol. 49, (7) : 3172-3177
Köhn, Linda; Burstedt, Marie SI; Jonsson, Frida; et al.
ABCA4 intronic variants c.4773+3A and c.5461-10T>C cause Stargardt disease due to defective splicing.: Intronic ABCA4 variants cause splice defects in Stargardt disease
Jonsson, Frida; Westin, IM; Österman, L; et al.
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