Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Ida Maria Westin"'
Autor:
Ida Maria Westin, Frida Jonsson, Lennart Österman, Monica Holmberg, Marie Burstedt, Irina Golovleva
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations. The ortholog of Drosophila eyes shut/spacemaker, EYS on chromosome 6q12 is a major genetic cause of recessive RP worldwide, wit
Externí odkaz:
https://doaj.org/article/7d1c0a553203498cb63fcaadea9dd10e
Autor:
Annika Winbo, Eva-Lena Stattin, Ida Maria Westin, Anna Norberg, Johan Persson, Steen M. Jensen, Annika Rydberg
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)
Abstract Background Sequence variants in the NOS1AP gene have repeatedly been reported to influence QTc, albeit with moderate effect sizes. In the long QT syndrome (LQTS), this may contribute to the substantial QTc variance seen among carriers of ide
Externí odkaz:
https://doaj.org/article/e142399726f84005ad0c4e2caebdedb4
Autor:
Ida Maria Westin, Mattias Landfors, Antonios Giannopoulos, Andreas Viberg, Pia Osterman, Berit Byström, Sofie Degerman, Irina Golovleva
Publikováno v:
Cellular and Molecular Life Sciences. 80
Late-onset Fuchs endothelial corneal dystrophy (FECD) is a disease affecting the corneal endothelium (CE), associated with a cytosine-thymine-guanine repeat expansion at the CTG18.1 locus in the transcription factor 4 (TCF4) gene. It is unknown wheth
Publikováno v:
Acta Ophthalmologica. 100:541-548
Purpose: Fuchs' endothelial corneal dystrophy (FECD) has been considered a genetically heterogeneous disease but is increasingly associated with the transcription factor 4 (TCF4) gene. This study investigates the prevalence of the cytosine-thymine-gu
Autor:
Monica Holmberg, Lennart Österman, Irina Golovleva, Frida Jonsson, Ida Maria Westin, Marie Burstedt
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Scientific Reports
Scientific Reports
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations. The ortholog of Drosophila eyes shut/spacemaker, EYS on chromosome 6q12 is a major genetic cause of recessive RP worldwide, with prevale
Publikováno v:
Genes; Volume 12; Issue 12; Pages: 2006
Genes
Genes, Vol 12, Iss 2006, p 2006 (2021)
Genes
Genes, Vol 12, Iss 2006, p 2006 (2021)
Fuchs’ endothelial corneal dystrophy (FECD) is a bilateral disease of the cornea caused by gradual loss of corneal endothelial cells. Late-onset FECD is strongly associated with the CTG18.1 trinucleotide repeat expansion in the Transcription Factor
Autor:
Monica Holmberg, Ida Maria Westin, Ola Sandgren, Lennart Österman, Irina Golovleva, Frida Jonsson, Marie Burstedt
Publikováno v:
Acta ophthalmologica. 96(7)
Inherited retinal dystrophies (IRDs) represent a group of progressive conditions affecting the retina. There is a great genetic heterogeneity causing IRDs, and to date, more than 260 genes are associated with IRDs. Stargardt disease, type 1 (STGD1) o
Autor:
Eva-Lena Stattin, Steen M. Jensen, Annika Rydberg, Ida Maria Westin, Anna Norberg, Johan Persson, Annika Winbo
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)
BMC Medical Genetics
BMC Medical Genetics
Background: Sequence variants in the NOS1AP gene have repeatedly been reported to influence QTc, albeit with moderate effect sizes. In the long QT syndrome (LQTS), this may contribute to the substantial QTc variance seen among carriers of identical p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf01c19fcb77c4698bdf104710c292aa
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-138033
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-138033
Autor:
Ida Maria Westin, Eva-Lena Stattin, Kristina Cederquist, Jenni Jonasson, Peter Krantz, Björn-Anders Jonsson, Anna Norberg, Aase Wisten, Stellan Mörner
Publikováno v:
International Journal of Legal Medicine
Background Autopsy of sudden cardiac death (SCD) in the young shows a structurally and histologically normal heart in about one third of cases. Sudden death in these cases is believed to be attributed in a high percentage to inherited arrhythmogenic